Breast: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES.Breast Neoplasms: Tumors or cancer of the human BREAST.Carcinoma, Ductal, Breast: An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.Receptors, Estrogen: Cytoplasmic proteins that bind estrogens and migrate to the nucleus where they regulate DNA transcription. Evaluation of the state of estrogen receptors in breast cancer patients has become clinically important.Disease Susceptibility: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.Cell Line, Tumor: A cell line derived from cultured tumor cells.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Receptor, erbB-2: A cell surface protein-tyrosine kinase receptor that is overexpressed in a variety of ADENOCARCINOMAS. It has extensive homology to and heterodimerizes with the EGF RECEPTOR, the ERBB-3 RECEPTOR, and the ERBB-4 RECEPTOR. Activation of the erbB-2 receptor occurs through heterodimer formation with a ligand-bound erbB receptor family member.Breast Diseases: Pathological processes of the BREAST.Tamoxifen: One of the SELECTIVE ESTROGEN RECEPTOR MODULATORS with tissue-specific activities. Tamoxifen acts as an anti-estrogen (inhibiting agent) in the mammary tissue, but as an estrogen (stimulating agent) in cholesterol metabolism, bone density, and cell proliferation in the ENDOMETRIUM.Receptors, Progesterone: Specific proteins found in or on cells of progesterone target tissues that specifically combine with progesterone. The cytosol progesterone-receptor complex then associates with the nucleic acids to initiate protein synthesis. There are two kinds of progesterone receptors, A and B. Both are induced by estrogen and have short half-lives.Gene Expression Regulation, Neoplastic: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.Mammography: Radiographic examination of the breast.Neoplasm Metastasis: The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.Neoplasm Invasiveness: Ability of neoplasms to infiltrate and actively destroy surrounding tissue.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Tumor Markers, Biological: Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.Breast Neoplasms, Male: Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Antineoplastic Agents, Hormonal: Antineoplastic agents that are used to treat hormone-sensitive tumors. Hormone-sensitive tumors may be hormone-dependent, hormone-responsive, or both. A hormone-dependent tumor regresses on removal of the hormonal stimulus, by surgery or pharmacological block. Hormone-responsive tumors may regress when pharmacologic amounts of hormones are administered regardless of whether previous signs of hormone sensitivity were observed. The major hormone-responsive cancers include carcinomas of the breast, prostate, and endometrium; lymphomas; and certain leukemias. (From AMA Drug Evaluations Annual 1994, p2079)Neoplasm Staging: Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.Genes, BRCA1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.Early Detection of Cancer: Methods to identify and characterize cancer in the early stages of disease and predict tumor behavior.Mastectomy: Surgical procedure to remove one or both breasts.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Antineoplastic Agents: Substances that inhibit or prevent the proliferation of NEOPLASMS.Postmenopause: The physiological period following the MENOPAUSE, the permanent cessation of the menstrual life.Chemotherapy, Adjuvant: Drug therapy given to augment or stimulate some other form of treatment such as surgery or radiation therapy. Adjuvant chemotherapy is commonly used in the therapy of cancer and can be administered before or after the primary treatment.Carcinoma, Lobular: A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.MCF-7 Cells: An estrogen responsive cell line derived from a patient with metastatic human breast ADENOCARCINOMA (at the Michigan Cancer Foundation.)Carcinoma, Intraductal, Noninfiltrating: A noninvasive (noninfiltrating) carcinoma of the breast characterized by a proliferation of malignant epithelial cells confined to the mammary ducts or lobules, without light-microscopy evidence of invasion through the basement membrane into the surrounding stroma.Mice, Nude: Mutant mice homozygous for the recessive gene "nude" which fail to develop a thymus. They are useful in tumor studies and studies on immune responses.Tumor Cells, Cultured: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.Wnt3A Protein: A Wnt protein subtype that plays a role in cell-cell signaling during EMBRYONIC DEVELOPMENT and the morphogenesis of the developing NEURAL TUBE.Breast Feeding: The nursing of an infant at the breast.Estrogen Receptor alpha: One of the ESTROGEN RECEPTORS that has marked affinity for ESTRADIOL. Its expression and function differs from, and in some ways opposes, ESTROGEN RECEPTOR BETA.Drug Resistance, Neoplasm: Resistance or diminished response of a neoplasm to an antineoplastic agent in humans, animals, or cell or tissue cultures.Premenopause: The period before MENOPAUSE. In premenopausal women, the climacteric transition from full sexual maturity to cessation of ovarian cycle takes place between the age of late thirty and early fifty.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Estrogens: Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Antineoplastic Combined Chemotherapy Protocols: The use of two or more chemicals simultaneously or sequentially in the drug therapy of neoplasms. The drugs need not be in the same dosage form.Carcinoma: A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)Mammary Neoplasms, Experimental: Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.Breast Self-Examination: The inspection of one's breasts, usually for signs of disease, especially neoplastic disease.Ovarian Neoplasms: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Microbial Sensitivity Tests: Any tests that demonstrate the relative efficacy of different chemotherapeutic agents against specific microorganisms (i.e., bacteria, fungi, viruses).Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.Disease-Free Survival: Period after successful treatment in which there is no appearance of the symptoms or effects of the disease.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Neoplasms, Hormone-Dependent: Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Lymphatic Metastasis: Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.BRCA1 Protein: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Neoplasm Recurrence, Local: The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site.Menopause: The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.Genes, BRCA2: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Survival Rate: The proportion of survivors in a group, e.g., of patients, studied and followed over a period, or the proportion of persons in a specified group alive at the beginning of a time interval who survive to the end of the interval. It is often studied using life table methods.Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Lung Neoplasms: Tumors or cancer of the LUNG.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Fibrocystic Breast Disease: A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Neoplasms: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.Aromatase Inhibitors: Compounds that inhibit AROMATASE in order to reduce production of estrogenic steroid hormones.Incidence: The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Estrogen Antagonists: Compounds which inhibit or antagonize the action or biosynthesis of estrogenic compounds.Survivors: Persons who have experienced a prolonged survival after serious disease or who continue to live with a usually life-threatening condition as well as family members, significant others, or individuals surviving traumatic life events.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Mastectomy, Segmental: Removal of only enough breast tissue to ensure that the margins of the resected surgical specimen are free of tumor.Plasma: The residual portion of BLOOD that is left after removal of BLOOD CELLS by CENTRIFUGATION without prior BLOOD COAGULATION.Genes, erbB-2: The erbB-2 gene is a proto-oncogene that codes for the erbB-2 receptor (RECEPTOR, ERBB-2), a protein with structural features similar to the epidermal growth factor receptor. Its name originates from the viral oncogene homolog (v-erbB) which is a truncated form of the chicken erbB gene found in the avian erythroblastosis virus. Overexpression and amplification of the gene is associated with a significant number of adenocarcinomas. The human c-erbB-2 gene is located at 17q21.2.Axilla: Area of the human body underneath the SHOULDER JOINT, also known as the armpit or underarm.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Mammary Glands, Human: Glandular tissue in the BREAST of human that is under the influence of hormones such as ESTROGENS; PROGESTINS; and PROLACTIN. In WOMEN, after PARTURITION, the mammary glands secrete milk (MILK, HUMAN) for the nourishment of the young.DNA, Neoplasm: DNA present in neoplastic tissue.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.United StatesSensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Xenograft Model Antitumor Assays: In vivo methods of screening investigative anticancer drugs, biologic response modifiers or radiotherapies. Human tumor tissue or cells are transplanted into mice or rats followed by tumor treatment regimens. A variety of outcomes are monitored to assess antitumor effectiveness.Multivariate Analysis: A set of techniques used when variation in several variables has to be studied simultaneously. In statistics, multivariate analysis is interpreted as any analytic method that allows simultaneous study of two or more dependent variables.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.RNA, Small Interfering: Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.Estradiol: The 17-beta-isomer of estradiol, an aromatized C18 steroid with hydroxyl group at 3-beta- and 17-beta-position. Estradiol-17-beta is the most potent form of mammalian estrogenic steroids.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.Fluorouracil: A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the THYMIDYLATE SYNTHETASE conversion of deoxyuridylic acid to thymidylic acid.Bone Neoplasms: Tumors or cancer located in bone tissue or specific BONES.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Colonic Neoplasms: Tumors or cancer of the COLON.Neoplasm Transplantation: Experimental transplantation of neoplasms in laboratory animals for research purposes.Cell Movement: The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.Antibodies, Monoclonal, Humanized: Antibodies from non-human species whose protein sequences have been modified to make them nearly identical with human antibodies. If the constant region and part of the variable region are replaced, they are called humanized. If only the constant region is modified they are called chimeric. INN names for humanized antibodies end in -zumab.Anti-Bacterial Agents: Substances that reduce the growth or reproduction of BACTERIA.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Ultrasonography, Mammary: Use of ultrasound for imaging the breast. The most frequent application is the diagnosis of neoplasms of the female breast.Transplantation, Heterologous: Transplantation between animals of different species.Cyclophosphamide: Precursor of an alkylating nitrogen mustard antineoplastic and immunosuppressive agent that must be activated in the LIVER to form the active aldophosphamide. It has been used in the treatment of LYMPHOMA and LEUKEMIA. Its side effect, ALOPECIA, has been used for defleecing sheep. Cyclophosphamide may also cause sterility, birth defects, mutations, and cancer.Carcinoma, Ductal: Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Down-Regulation: A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.Estrogen Receptor Modulators: Substances that possess antiestrogenic actions but can also produce estrogenic effects as well. They act as complete or partial agonist or as antagonist. They can be either steroidal or nonsteroidal in structure.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.Cell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Predictive Value of Tests: In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.Epirubicin: An anthracycline which is the 4'-epi-isomer of doxorubicin. The compound exerts its antitumor effects by interference with the synthesis and function of DNA.Selaginellaceae: A plant family of the order Selaginellales, class Lycopodiopsida, division Lycopodiophyta, subkingdom Tracheobionta. Members contain bilobetin. The rarely used common name of resurrection plant is mainly used with CRATEROSTIGMA.Nitriles: Organic compounds containing the -CN radical. The concept is distinguished from CYANIDES, which denotes inorganic salts of HYDROGEN CYANIDE.Stomach Neoplasms: Tumors or cancer of the STOMACH.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Antibodies, Monoclonal: Antibodies produced by a single clone of cells.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Kaplan-Meier Estimate: A nonparametric method of compiling LIFE TABLES or survival tables. It combines calculated probabilities of survival and estimates to allow for observations occurring beyond a measurement threshold, which are assumed to occur randomly. Time intervals are defined as ending each time an event occurs and are therefore unequal. (From Last, A Dictionary of Epidemiology, 1995)Carcinoma in Situ: A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane.SEER Program: A cancer registry mandated under the National Cancer Act of 1971 to operate and maintain a population-based cancer reporting system, reporting periodically estimates of cancer incidence and mortality in the United States. The Surveillance, Epidemiology, and End Results (SEER) Program is a continuing project of the National Cancer Institute of the National Institutes of Health. Among its goals, in addition to assembling and reporting cancer statistics, are the monitoring of annual cancer incident trends and the promoting of studies designed to identify factors amenable to cancer control interventions. (From National Cancer Institute, NIH Publication No. 91-3074, October 1990)TriazolesTissue Array Analysis: The simultaneous analysis of multiple samples of TISSUES or CELLS from BIOPSY or in vitro culture that have been arranged in an array format on slides or microchips.Nipples: The conic organs which usually give outlet to milk from the mammary glands.Lymph Nodes: They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Neoplasms, Second Primary: Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.Tumor Burden: The total amount (cell number, weight, size or volume) of tumor cells or tissue in the body.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Dose-Response Relationship, Drug: The relationship between the dose of an administered drug and the response of the organism to the drug.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Breast Implants: Implants used to reconstruct and/or cosmetically enhance the female breast. They have an outer shell or envelope of silicone elastomer and are filled with either saline or silicone gel. The outer shell may be either smooth or textured.DNA Methylation: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.Combined Modality Therapy: The treatment of a disease or condition by several different means simultaneously or sequentially. Chemoimmunotherapy, RADIOIMMUNOTHERAPY, chemoradiotherapy, cryochemotherapy, and SALVAGE THERAPY are seen most frequently, but their combinations with each other and surgery are also used.Triple Negative Breast Neoplasms: Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN.Tumor Suppressor Proteins: Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Neoplastic Stem Cells: Highly proliferative, self-renewing, and colony-forming stem cells which give rise to NEOPLASMS.Confidence Intervals: A range of values for a variable of interest, e.g., a rate, constructed so that this range has a specified probability of including the true value of the variable.Receptor, Epidermal Growth Factor: A cell surface receptor involved in regulation of cell growth and differentiation. It is specific for EPIDERMAL GROWTH FACTOR and EGF-related peptides including TRANSFORMING GROWTH FACTOR ALPHA; AMPHIREGULIN; and HEPARIN-BINDING EGF-LIKE GROWTH FACTOR. The binding of ligand to the receptor causes activation of its intrinsic tyrosine kinase activity and rapid internalization of the receptor-ligand complex into the cell.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.China: A country spanning from central Asia to the Pacific Ocean.Cell Growth Processes: Processes required for CELL ENLARGEMENT and CELL PROLIFERATION.Cell Cycle: The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Mass Screening: Organized periodic procedures performed on large groups of people for the purpose of detecting disease.Inflammatory Breast Neoplasms: Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells.Neoplasm Grading: Methods which attempt to express in replicable terms the level of CELL DIFFERENTIATION in neoplasms as increasing ANAPLASIA correlates with the aggressiveness of the neoplasm.RNA Interference: A gene silencing phenomenon whereby specific dsRNAs (RNA, DOUBLE-STRANDED) trigger the degradation of homologous mRNA (RNA, MESSENGER). The specific dsRNAs are processed into SMALL INTERFERING RNA (siRNA) which serves as a guide for cleavage of the homologous mRNA in the RNA-INDUCED SILENCING COMPLEX. DNA METHYLATION may also be triggered during this process.Up-Regulation: A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.Paclitaxel: A cyclodecane isolated from the bark of the Pacific yew tree, TAXUS BREVIFOLIA. It stabilizes MICROTUBULES in their polymerized form leading to cell death.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Ki-67 Antigen: A CELL CYCLE and tumor growth marker which can be readily detected using IMMUNOCYTOCHEMISTRY methods. Ki-67 is a nuclear antigen present only in the nuclei of cycling cells.RNA, Neoplasm: RNA present in neoplastic tissue.Antigens, Neoplasm: Proteins, glycoprotein, or lipoprotein moieties on surfaces of tumor cells that are usually identified by monoclonal antibodies. Many of these are of either embryonic or viral origin.Radiotherapy, Adjuvant: Radiotherapy given to augment some other form of treatment such as surgery or chemotherapy. Adjuvant radiotherapy is commonly used in the therapy of cancer and can be administered before or after the primary treatment.Immunoenzyme Techniques: Immunologic techniques based on the use of: (1) enzyme-antibody conjugates; (2) enzyme-antigen conjugates; (3) antienzyme antibody followed by its homologous enzyme; or (4) enzyme-antienzyme complexes. These are used histologically for visualizing or labeling tissue specimens.Cancer Vaccines: Vaccines or candidate vaccines designed to prevent or treat cancer. Vaccines are produced using the patient's own whole tumor cells as the source of antigens, or using tumor-specific antigens, often recombinantly produced.Mammaplasty: Surgical reconstruction of the breast including both augmentation and reduction.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.Clinical Trials as Topic: Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.Pancreatic Neoplasms: Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).Parity: The number of offspring a female has borne. It is contrasted with GRAVIDITY, which refers to the number of pregnancies, regardless of outcome.Mice, Inbred BALB CDNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Anticarcinogenic Agents: Agents that reduce the frequency or rate of spontaneous or induced tumors independently of the mechanism involved.Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Neoadjuvant Therapy: Preliminary cancer therapy (chemotherapy, radiation therapy, hormone/endocrine therapy, immunotherapy, hyperthermia, etc.) that precedes a necessary second modality of treatment.Antigens, CD24: A cell adhesion protein that was originally identified as a heat stable antigen in mice. It is involved in METASTASIS and is highly expressed in many NEOPLASMS.Fibroadenoma: An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)Mice, SCID: Mice homozygous for the mutant autosomal recessive gene "scid" which is located on the centromeric end of chromosome 16. These mice lack mature, functional lymphocytes and are thus highly susceptible to lethal opportunistic infections if not chronically treated with antibiotics. The lack of B- and T-cell immunity resembles severe combined immunodeficiency (SCID) syndrome in human infants. SCID mice are useful as animal models since they are receptive to implantation of a human immune system producing SCID-human (SCID-hu) hematochimeric mice.Drug Screening Assays, Antitumor: Methods of investigating the effectiveness of anticancer cytotoxic drugs and biologic inhibitors. These include in vitro cell-kill models and cytostatic dye exclusion tests as well as in vivo measurement of tumor growth parameters in laboratory animals.Proportional Hazards Models: Statistical models used in survival analysis that assert that the effect of the study factors on the hazard rate in the study population is multiplicative and does not change over time.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Medical Oncology: A subspecialty of internal medicine concerned with the study of neoplasms.Drug Administration Schedule: Time schedule for administration of a drug in order to achieve optimum effectiveness and convenience.Mucin-1: Carbohydrate antigen elevated in patients with tumors of the breast, ovary, lung, and prostate as well as other disorders. The mucin is expressed normally by most glandular epithelia but shows particularly increased expression in the breast at lactation and in malignancy. It is thus an established serum marker for breast cancer.Uterine Cervical Neoplasms: Tumors or cancer of the UTERINE CERVIX.Hair Cells, Auditory: Sensory cells in the organ of Corti, characterized by their apical stereocilia (hair-like projections). The inner and outer hair cells, as defined by their proximity to the core of spongy bone (the modiolus), change morphologically along the COCHLEA. Towards the cochlear apex, the length of hair cell bodies and their apical STEREOCILIA increase, allowing differential responses to various frequencies of sound.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Radiotherapy: The use of IONIZING RADIATION to treat malignant NEOPLASMS and some benign conditions.Genes, Neoplasm: Genes whose abnormal expression, or MUTATION are associated with the development, growth, or progression of NEOPLASMS.Gene Knockdown Techniques: The artificial induction of GENE SILENCING by the use of RNA INTERFERENCE to reduce the expression of a specific gene. It includes the use of DOUBLE-STRANDED RNA, such as SMALL INTERFERING RNA and RNA containing HAIRPIN LOOP SEQUENCE, and ANTI-SENSE OLIGONUCLEOTIDES.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.
Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and ... "Susceptibility pathways in Fanconi's anemia and breast cancer". N. Engl. J. Med. 362 (20): 1909-19. doi:10.1056/NEJMra0809889. ... damages that are repaired by homologous recombination involving coordination of FA proteins and breast cancer susceptibility ... Cancer Res. 17 (3): 401-5. doi:10.1158/1078-0432.CCR-10-1215. PMID 21088254. Taniguchi T, Garcia-Higuera I, Andreassen PR, ...
Peto J (June 2002). "Breast cancer susceptibility-A new look at an old model". Cancer Cell. 1 (5): 411-2. doi:10.1016/S1535- ... What Are the Risk Factors for Breast Cancer? Archived 29 April 2009 at the Wayback Machine. American Cancer Society, Accessed ... As an example, the risk of breast cancer is 50 times higher in the families most at risk, compared to the families least at ... A woman's risk of breast cancer therefore comes from a large number of alleles interacting with her environment, so it is very ...
Breast Cancer Susceptibility Collaboration, (UK); Easton, D. F.; Stratton, M. R.; Rahman, N. (August 2006). "ATM mutations that ... They are generally healthy, but there is an increased risk of breast cancer in women. This finding has been confirmed in a ... cause ataxia-telangiectasia are breast cancer susceptibility alleles". Nature Genetics. 38 (8): 873-5. doi:10.1038/ng1837. PMID ... Shiloh, Y.; Kastan, M. B. (2001). "ATM: genome stability, neuronal development, and cancer cross paths". Advances in cancer ...
Ahmed M, Rahman N (2006). "ATM and breast cancer susceptibility". Oncogene. 25 (43): 5906-11. doi:10.1038/sj.onc.1209873. PMID ... in 1,120 breast cancers, 2.1% in 847 kidney cancers, 4.6% in colon cancers, 7.2% among 1,040 lung cancers and 11.1% in 1790 ... Friedenson B (2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. ... breast cancers and was hypermethylated in 78% of stage II or greater breast cancers with a highly significant correlation (P = ...
The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers». Frontiers in Bioscience (Landmark Edition). 19: ... The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers». Frontiers in Bioscience (Landmark Edition). 19: ... Breast cancer susceptibility gene 1 (BRCAI) is a coactivator of the androgen receptor». Cancer Res. 60 (21): 5946-9. PMID ... in breast cancer is related to tumour grade». Br J Cancer. 90 (10): 1995-2001. PMC 2409464. . PMID 15138484. doi:10.1038/sj.bjc ...
Russo J, Tay L, Russo I (1982). "Differentiation of the mammary gland and susceptibility to carcinogenesis". Breast Cancer ... Breast cancer hypothesis[change , change source]. There is a hypothesis that induced abortion raises the risk of getting breast ... "Breast Cancer Risks". United States House Committee on Oversight and Government Reform. Retrieved 2008-04-14.. ... "Induced abortion does not increase breast cancer risk". World Health Organization. June 2000. Retrieved 2007-12-24.. ...
D'Andrea AD (May 2010). "Susceptibility pathways in Fanconi's anemia and breast cancer". The New England Journal of Medicine. ... is a breast cancer susceptibility gene". Nature Genetics. 39 (2): 165-7. doi:10.1038/ng1959. PMC 2871593 . PMID 17200668. Reid ... "Association of common PALB2 polymorphisms with breast cancer risk: a case-control study". Clinical Cancer Research. 14 (18): ... Variants in the PALB2 gene are associated with an increased risk of developing breast cancer of magnitude similar to that ...
D'Andrea AD (2010). "Susceptibility pathways in Fanconi's anemia and breast cancer". N. Engl. J. Med. 362 (20): 1909-19. doi: ... There are 19 genes responsible for FA, one of them being the breast-cancer susceptibility gene BRCA2. They are involved in the ... Schwartz, Robert S.; d'Andrea, Alan D. (May 2010). "Susceptibility pathways in Fanconi's anemia and breast cancer". N. Engl. J ... Cancer Res. 17 (3): 401-5. doi:10.1158/1078-0432.CCR-10-1215. PMID 21088254. Taniguchi T, Garcia-Higuera I, Andreassen PR, ...
... breast cancer susceptibility protein). FANCD2 mutant mice exhibit chromosome mis-pairing during the pachytene stage of meiosis ... "Susceptibility pathways in Fanconi's anemia and breast cancer". N. Engl. J. Med. 362 (20): 1909-19. doi:10.1056/NEJMra0809889. ... Cancer Res. 17 (3): 401-5. doi:10.1158/1078-0432.CCR-10-1215. PMID 21088254. Taniguchi T, Garcia-Higuera I, Andreassen PR, ... Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS, Grompe M (2003). "Epithelial cancer in Fanconi anemia ...
Nevanlinna H, Bartek J (Sep 2006). "The CHEK2 gene and inherited breast cancer susceptibility". Oncogene. 25 (43): 5912-9. doi: ... Nevanlinna H, Bartek J (Sep 2006). "The CHEK2 gene and inherited breast cancer susceptibility". Oncogene. 25 (43): 5912-9. doi: ... that a CHEK2 1100delC corresponds to a two-fold increased risk of breast cancer and a 10-fold increased risk of breast cancer ... "Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations". Nature ...
Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and ... "Susceptibility pathways in Fanconi's anemia and breast cancer". N. Engl. J. Med. 362 (20): 1909-19. doi:10.1056/NEJMra0809889. ... damages that are repaired by homologous recombination involving coordination of FA proteins and breast cancer susceptibility ... 2007). "Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells". Cancer Biol. Ther. 5 (12): ...
"Network modeling links breast cancer susceptibility and centrosome dysfunction". Nature Genetics. 39 (11): 1338-49. doi:10.1038 ... "Network modeling links breast cancer susceptibility and centrosome dysfunction". Nature Genetics. 39 (11): 1338-49. doi:10.1038 ... "Hyaluronan-mediated motility receptor gene single nucleotide polymorphisms and risk of breast cancer". Cancer Epidemiology, ... RHAMM is over expressed in breast cancer and its expression in triple negative and HER2 subtypes is associated with poor ...
Russo J, Tay L, Russo I (1982). "Differentiation of the mammary gland and susceptibility to carcinogenesis". Breast Cancer ... The abortion-breast cancer hypothesis posits that induced abortion increases the risk of developing breast cancer. This ... "Breast Cancer Risks". United States House Committee on Oversight and Government Reform. Archived from the original on 27 March ... "Induced abortion does not increase breast cancer risk". World Health Organization. June 2000. Archived from the original on 14 ...
2007). "Network modeling links breast cancer susceptibility and centrosome dysfunction". Nature Genetics. 39 (11): 1338-49. doi ...
"CYP2D6 gene variants and their association with breast cancer susceptibility". Cancer Epidemiology, Biomarkers & Prevention. 20 ... association with breast cancer specific survival in a cohort of breast cancer patients from the United Kingdom treated with ... Hoskins JM, Carey LA, McLeod HL (August 2009). "CYP2D6 and tamoxifen: DNA matters in breast cancer". Nature Reviews. Cancer. 9 ... Breast Cancer Research. 12 (4): R64. doi:10.1186/bcr2629. PMC 2949659 . PMID 20731819. Abraham JE, Maranian MJ, Driver KE, ...
July 2007). "Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer". ... April 2008). "Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation ... June 2007). "Genome-wide association study identifies novel breast cancer susceptibility loci". Nature. 447 (7148): 1087-93. ... Mutations in the TOX3 gene are associated with an increased risk of breast cancer. "Entrez Gene: TOX high mobility group box ...
"Mutation and association analysis of GEN1 in breast cancer susceptibility". Breast Cancer Res. Treat. 124 (1): 283-8. doi: ... "Mutation and association analysis of GEN1 in breast cancer susceptibility". Breast Cancer Res. Treat. 124 (1): 283-8. doi: ... "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study". Mutat. Res. 694 (1-2 ...
He has also been a member of a British study group determining novel breast cancer susceptibility loci. His ten most cited ... "Genome-wide association study identifies novel breast cancer susceptibility loci." Nature. 2007 May 27 PMID 17529967. ...
Triple-negative breast cancer cells rely on glutathione-S-transferase Pi1, and inhibitors are being studied. Piperlongumine has ... influence of polymorphism on cancer susceptibility". IARC Sci. Publ. (148): 231-49. PMID 10493261. Kellen E, Hemelt M, Broberg ... Triple-negative breast cancer target is found. May 2016 http://medicalxpress.com/news/2017-01-uncover-mechanism-cancer-killing- ... GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and ...
"Single Nucleotide Polymorphisms in Human Geneicb-1and Breast Cancer Susceptibility". Cancer Investigation. 27 (6): 669-672. doi ... "Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells". Endocrine Related Cancer. 17 (1 ... C1orf38 has been associated with cancer susceptibility. Model organisms have been used in the study of C1orf38 function. A ... Cancer Investigation. 28 (9): 904-909. doi:10.3109/07357907.2010.483511. PMID 20569072. Konwisorz, A.; Springwald, A.; ...
... 3 has been identified as a breast cancer susceptibility locus. TOX is highly expressed in the thymus, the site of ... July 2007). "Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer". ... June 2007). "Genome-wide association study identifies novel breast cancer susceptibility loci". Nature. 447 (7148): 1087-93. ...
Her primary areas of research are breast cancer susceptibility, childhood cancer susceptibility and human growth disorders. In ... 2007). "Genome-wide association study identifies novel breast cancer susceptibility loci". Nature. 447 (7148): 1087-93. doi: ... particularly among groups with a predisposition to paediatric cancers or breast cancer. Through her research, Professor Rahman ... short career to date she has already identified and characterised 4 breast cancer predisposition genes and two childhood cancer ...
"Variants in DNA double-strand break repair genes and breast cancer susceptibility". Human Molecular Genetics. 11 (12): 1399-407 ... Bernstein H, Payne CM, Bernstein C, Garewal H, Dvorak K (2008). "Chapter 1: Cancer and aging as consequences of un-repaired DNA ...
"A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1". Science. 266 (5182): 66-71. doi:10.1126/ ...
"A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1". Science. 266 (5182): 66-71. Bibcode:1994Sci... ...
"Oral complications of cancer and cancer therapy: from cancer treatment to survivorship". CA: A Cancer Journal for Clinicians. ... Disruption to any of these local and systemic host defense mechanisms constitutes a potential susceptibility to oral ... with the breast of the bird of the same name. Many pseudoscientific claims by proponents of alternative medicine surround the ... Oropharyngeal candidiasis is common during cancer care, and it is a very common oral sign in individuals with HIV. Oral ...
... allowed us to identify XRCC2 as a breast cancer susceptibility gene in individuals with a family history of breast cancer," ... for breast cancer can be explained by a combination of mutations to and common sequence variation in the known breast cancer ... The study looked at families that have a history of the disease but do not have mutations in the currently known breast cancer ... "A worldwide effort has already been launched to figure out what fraction of breast cancer is due to mutations in this gene and ...
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
Cancer »DNA »DNA repair »HCI »XRCC2 »breast cancer »building block »cancer gene »cancer patients »family history »gene mutation ... Further reports about: , Cancer , DNA , DNA repair , HCI , XRCC2 , breast cancer , building block , cancer gene , cancer ... A New Breast Cancer Susceptibility Gene 02.04.2012. Mutations in a gene called XRCC2 cause increased breast cancer risk, ... allowed us to identify XRCC2 as a breast cancer susceptibility gene in individuals with a family history of breast cancer," ...
... which constitute the most important of the known breast cancer susceptibility genes in terms of high penetrance and clinical ... Hereditary breast cancer is mainly attributed toloss‐of‐function mutations in and genes, ... Figure 1. Distribution of breast cancer susceptibility genes. The majority of breast cancer cases are sporadic. Interestingly, ... CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 ...
Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.. Smith KC1, Bateman AC, Fussell HM, Howell WM. ... A total of 144 female breast cancer patients and 263 cancer-free population controls were genotyped for the interleukin (IL)- ... These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires ... comparisons revealed a non-significant trend for association between the TNF-alpha-308 GG genotype and breast cancer compared ...
Genetic susceptibility for breast cancer--risk assessment and counseling.. Ang P1, Garber JE. ... for careful discussion of the complex issues raised by genetic testing for inherited breast/ovarian cancer susceptibility may ... In this review, we summarize basic information about breast cancer genetics, examine accumulating data about the prevalence and ... Although most cancers do have a hereditary component, recognizing individuals who are at unusually high risk is important for ...
Breast Cancer at age 50 or higher 3 Breast cancer prior to age 50 4 ... Susceptibility to Breast Cancer. The safety and scientific validity of this study is the responsibility of the study sponsor ... if these genetic differences influence a person s susceptibility to breast cancer when they are exposed to certain ... Breast cancer incidence in women with abnormal cytology in nipple aspirates of breast fluid. Am J Epidemiol. 1992 Jan 15;135(2 ...
Similar proteins: Breast cancer type 2 susceptibility protein (P51587) Showing 1 to 20 of 241 results ... Breast cancer type 2 susceptibility protein. Balearica regulorum gibbericeps (East African grey crowned-crane). Loading... ... Breast cancer type 2 susceptibility protein-like protein. Ooceraea biroi (Clonal raider ant). Loading... ... Putative breast cancer type 2 susceptibility protein like protein. Cricetulus griseus (Chinese hamster). Loading... ...
... can identify another gene that increases susceptibility to breast and ovarian cancer. Their results have been published online ... The discovery 15 years ago that the genes BRCA1 and BRCA2 confer high risks for breast and ovarian cancer was a breakthrough ... for cancer prediction and therapy, especially for familial cases. Now, the research group of Prof. Alfons Meindl (Klinikum ... Scientists Identify New Breast Cancer Susceptibility Gene. The researchers goal is to determine the breast cancer risk for each ...
... rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region ( ... The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide ... Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers ... 64 Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.. *65 Breast Cancer Research Unit, Cancer Research ...
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
The risk of RT-induced breast cancer after Hodgkin lymphoma is strongly associated with a PRS for breast cancer in the general ... Genetic susceptibility to radiation-induced breast cancer after Hodgkin Lymphoma. Annemieke W.J. Opstal-van Winden, Hugoline G. ... Genetic susceptibility to radiation-induced breast cancer after Hodgkin Lymphoma. Annemieke W.J. Opstal-van Winden, Hugoline G. ... Genetic susceptibility to radiation-induced breast cancer after Hodgkin Lymphoma. Annemieke W.J. Opstal-van Winden, Hugoline G. ...
... those with bilateral breast cancer, multiple organ cancer including younger breast cancer patients (aged ,35 years). Mutations ... Germline mutations in cancer susceptibility genes cause cancer if the wild-type allele is lost or inactivated. Breast and ... Decreased expression of cancer susceptibility genes has been observed in sporadic breast and ovarian cancer where it is often ... The breast cancer-associated genes BRCA1 on chromosome 17q and BRCA2 on chromosome 13q are the most well-known breast cancer ...
We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing ... Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1 Nat Genet. 2009 Mar;41(3):324-8. ... These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer. ... We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing ...
Evaluation of 11 breast cancer susceptibility loci in African-American women. Cancer Epidemiol Biomarkers Prev 2009;18:2761-4. ... The 6q22.33 locus and breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev 2009;18:2468-75. ... Included in the study were 6,498 cases from the Shanghai Breast Cancer Study (SBCS) and Shanghai Breast Cancer Survival Study ( ... Association of menstrual and reproductive factors with breast cancer risk: results from the Shanghai Breast Cancer Study. Int J ...
"Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk" by Douglas F. Easton et al is published in the New England ... Following the discovery that the BRCA1 and BRCA2 genes were associated with a high risk of breast cancer, there was optimism ... Screening for genes whose risk association with breast cancer has yet to be proven is not justified and potentially harmful, ... Screening for genes whose risk association with breast cancer has yet to be proven is not justified and potentially harmful, ...
Retraction Note to: Correlations of IFN-γ genetic polymorphisms with susceptibility to breast cancer: a meta-analysis. ...
... or second-degree relatives with breast cancer, and women diagnosed with both breast and colorectal cancer. Controls (n = 1769 ... Potential shared genetic susceptibility between breast and colorectal cancer, not explained by high-penetrance genes, has been ... were women with breast cancer who had one or more first- or second-degree relatives with colorectal cancer, men/women with ... did not find clear evidence for a susceptibility locus with a pleiotropic effect on hereditary breast and colorectal cancer ...
Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing --- Atlanta, Denver, ... Breast and ovarian cancer are the second and fifth leading causes of cancer death, respectively, among women in the United ... Genetics of breast and ovarian cancer (PDQ). Available at http://www.cancer.gov/cancerinfo/pdq/genetics/breast-and-ovarian. ... One in eight women will have breast cancer during their lifetimes, and one in 70 will have ovarian cancer. Mutations in two ...
CYP17 Genetic variation and breast cancer risk: results from the NCI Breast and Prostate Cancer Cohort Consortium. V. Wendy ... More articles from Epidemiology 14: Susceptibility Genes in Breast and Endometrial Cancer. ... Cancer Research Online ISSN: 1538-7445. Cancer Research Print ISSN: 0008-5472. Journal of Cancer Research ISSN: 0099-7013. ... CASP8 polymorphisms, ER/PR receptor status, and breast cancer risk. Kyoung-Mu Lee, Ji-Yeob Choi, Sue Kyung Park, Keun-Young Yoo ...
Associations of 74 breast cancer risk variants with risk of overall breast cancer and breast cancer subtype in women of African ... breast cancer in the initial GWAS (46). No significant association was observed with overall breast cancer or breast cancer ... We tested 74 breast cancer risk variants and conducted fine-mapping of these susceptibility regions in 6,522 breast cancer ... breast cancer (MCF7, T47D, HCC1954), ER− breast cancer (MDAMB231) and normal breast (HMEC, Myoepithelial, Fibroblast, Luminal ...
Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry. Cancer Epidemiology, Biomarkers & ... We tested 74 breast cancer risk variants and conducted fine-mapping of these susceptibility regions in 6,522 breast cancer ... Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry. Cancer Epidemiology, Biomarkers & ... You are here: Home / Research / Publications / Characterizing Genetic Susceptibility to Breast Cancer in Women of African ...
Oslo Breast Cancer Consortium (OSBREAC). (2012) The landscape of cancer genes and mutational processes in breast cancer. Nature ... 2008) Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res 14(24):8000-8009. ... Breast cancer (BC) is the most prevalent cancer in women in North America, representing nearly one in three cancers diagnosed ( ... 2010) Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer. Breast Cancer Res 12(5): ...
... in regulation of gene expression and is increasingly being recognized as a determinant of chemosensitivity of human cancers. ... Demethylating agent 5-aza-2-deoxycytidine enhances susceptibility of breast cancer cells to anticancer agents. ... has tumor suppressor activity and is frequently inactivated in lung and breast cancers. Cancer Res 62(20):5874-5880PubMedGoogle ... Loss of cyclin D2 expression in the majority of breast cancers is associated with promoter hypermethylation. Cancer Res 61(6): ...
... negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci ... "Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer." Nature Communications 7 (1): ... Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. ... Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer ...
BRCA2LocusAllelesVariantsSNPsAssociation with breast cancer susceptibilityElevated breast and ovarian cancerIntermediate-risk breast cancer susceptibilityOncologyType 1 susceptibility proteinIdentifiesGenome-wide asOvarian cancersCandidate breast cancer-susceptibilityGeneticsAbstractGWASPolymorphismGenetic susceptibility lociMutations in breast cancer susceptibilityPredispositionAlleleEpidemiologyPenetranceEarly onsetLoci for breast cancerOestrogen receptor-positive breastConferPrognosisOdds ratioMutationFamilialInvasive breast cancersCentreEtiologyHuntsman Cancer InPostmenopausalTumorConsortiumHereditary breast and ovarian cancerEither breast or ovarian cancerProstateSubtypesGermline mutations
- BRCA1 and BRCA2 are the most commonly mutated genes accounting for 5-10% of hereditary breast cancer cases. (els.net)
- 2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. (els.net)
- Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. (els.net)
- In this review, we summarize basic information about breast cancer genetics, examine accumulating data about the prevalence and penetrance of deleterious mutations and management options for BRCA1 and BRCA2 mutation carriers, and discuss some of the counseling issues that may occur as physicians and patients explore this exploding area of oncology. (nih.gov)
- Although we have been able to identify genetic factors whose variants appear to significantly alter an individual's risk of developing breast cancer (BRCA1 and BRCA2), these genes are likely involved with less than 10% of breast cancer cases. (clinicaltrials.gov)
- The discovery 15 years ago that the genes BRCA1 and BRCA2 confer high risks for breast and ovarian cancer was a breakthrough for cancer prediction and therapy, especially for familial cases. (mytum.de)
- Mainly HBOC syndrome results from germline mutations in breast cancer genes BRCA1 or BRCA2. (spandidos-publications.com)
- The breast cancer-associated genes BRCA1 on chromosome 17q and BRCA2 on chromosome 13q are the most well-known breast cancer susceptibility genes ( 4 , 5 ). (spandidos-publications.com)
- Following the discovery that the BRCA1 and BRCA2 genes were associated with a high risk of breast cancer, there was optimism that more genes with an equally important association would be found. (healthcanal.com)
- Mutations in two genes, BRCA1 and BRCA2 (BRCA1/2), are associated with predisposition for inherited breast and ovarian cancer and are identified in 5%--10% of women with breast or ovarian cancer (BOC) ( 2 ). (cdc.gov)
- Prevalence and predictors of BRCA1/BRCA2 mutations in a population-based study of breast cancer in 2318 Caucasian and African-American women. (aacrjournals.org)
- The interaction between the breast cancer susceptibility protein BRCA2 and the RAD51 DNA recombinase is essential for DNA repair via homologous recombination. (bl.uk)
- BRCA1 and BRCA2 are prominently associated with inherited breast and ovarian cancer. (aacrjournals.org)
- These results suggest that BRCA1 and BRCA2 cooperate in DNA damage responses in a PALB2-dependent manner, and have important implications for the genesis of breast/ovarian cancer and for chemotherapy with DNA interstrand cross-linking agents. (aacrjournals.org)
- BRCA1 and BRCA2 are the major genes associated with inherited susceptibility to breast and ovarian cancer ( 1 - 4 ). (aacrjournals.org)
- PALB2 (partner and localizer of BRCA2) is also a breast cancer susceptibility gene ( 11 - 13 ) and was first identified by its interaction with BRCA2 protein ( 14 ). (aacrjournals.org)
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. (lu.se)
- The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006. (lu.se)
- Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. (lu.se)
- Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. (lu.se)
- In the mid 1990s, a classical linkage approach identified germline mutations in two genes, BRCA1 and BRCA2 , which are associated with a high risk of developing both breast and ovarian cancer , . (prolekare.cz)
- Beginning with a list of four genes known to cause breast cancer when inherited in an abnormal form - BRCA1, BRCA2, ATM, and CHEK2 - the investigators gathered information from existing studies on connections between those "hub" genes and their gene partners. (technologynetworks.com)
- Inherited predisposition to breast cancer is known to be caused by loss-of-function mutations in BRCA1, BRCA2, PALB2, CHEK2, and other genes involved in DNA repair. (elsevier.com)
- We aimed to assess whether CHEK2 was subject to DAE in lymphoblastoid cell lines (LCLs) from high-risk breast cancer patients for whom no mutation in BRCA1 or BRCA2 had been identified. (biomedcentral.com)
- Here, we address two related questions: (1) are some rare MRN variants intermediate-risk breast cancer susceptibility alleles, and if so (2) do the MRN genes follow a BRCA1 / BRCA2 pattern wherein most susceptibility alleles are protein-truncating variants, or do they follow an ATM / CHEK2 pattern wherein half or more of the susceptibility alleles are missense substitutions? (biomedcentral.com)
- Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. (nih.gov)
- Today, the FDA approved approved talazoparib (Talzenna), a drug of the PARP inhibitor class for breast cancer patients who possess harmful (or suspected harmful) BRCA2. (brca2.com)
- What is BRCA2 and what cancers are associated with BRCA2 mutations? (brca2.com)
- BRCA2.com and breast.guide are informational websites about the BRCA2 breast and ovarian cancer predisposition gene. (brca2.com)
- A new test developed by researchers at Mayo Clinic shows which mutations in the BRCA2 gene make women susceptible to developing breast or ovarian cancers. (news-medical.net)
- Certain inherited mutations in the BRCA2 gene have been linked to breast and ovarian cancer,' says Fergus Couch, Ph.D., lead author of the study. (news-medical.net)
- In their study, Dr. Couch and his co-authors describe a laboratory-based test that can establish which inherited mutations called variations of uncertain significance in the BRCA2 gene are involved in cancer. (news-medical.net)
- Up until now, it has only been possible to establish that 13 inherited mutations in BRCA2 are pathogenic and known to cause cancer,' says Dr. Couch. (news-medical.net)
- Going forward, Dr. Couch says this research will make it possible to evaluate the potential involvement in cancer of many more inherited mutations in the BRCA2 gene. (news-medical.net)
- Of the 5 to 10 percent of breast and ovarian cancer cases that are thought to be inherited, the majority (up to 80 percent) are caused by mutations in the BRCA1 or BRCA2 genes. (uhhospitals.org)
- This means thatnot all individuals who have a strong family history of breast or ovarian cancer are found to have BRCA1 or BRCA2 gene mutations. (uhhospitals.org)
- Therefore, an altered or mutated BRCA1 or BRCA2 gene increases the likelihood that cancer will develop. (uhhospitals.org)
- However, it is important to realize that a person who carries a BRCA1 or BRCA2 mutation is not at risk for all types of cancer. (uhhospitals.org)
- Also, having a BRCA1 or BRCA2 gene mutation does not guarantee that cancer will develop. (uhhospitals.org)
- In women who carry BRCA1 or BRCA2 mutations, the most common cancers are breast and ovarian cancer. (uhhospitals.org)
- A person's chance of carrying a BRCA1 or BRCA2 mutation depends upon their personal and family history of cancer. (uhhospitals.org)
- These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer. (nih.gov)
- The human chromosome 9 region orthologous to Mcs5a , a rat composite modifier locus, contains a breast cancer risk allele. (aacrjournals.org)
- To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. (escholarship.org)
- Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive. (escholarship.org)
- Cell-type specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. (surrey.ac.uk)
- We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. (lu.se)
- CONCLUSIONS: Through fine-mapping of known susceptibility regions we have revealed alleles that better characterize breast cancer risk in women of African ancestry. (unc.edu)
- IMPACT: The risk alleles identified represent genetic markers for modeling and stratifying breast cancer risk in women of African ancestry. (unc.edu)
- To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. (cam.ac.uk)
- This study will explore whether different forms, or variants, of genes are related to a person s risk of developing breast cancer. (clinicaltrials.gov)
- if breast cancer that occurs in families is related to a grouping of these variants. (clinicaltrials.gov)
- We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. (nih.gov)
- Further evaluation of previously reported loci could also help to identify additional risk variants in some of the loci, as in the case of 8q24.21 for prostate cancer risk ( 9 - 11 ) and 16q12 for breast cancer risk ( 1 ). (aacrjournals.org)
- BACKGROUND: Genome-wide association studies have identified ~100 common genetic variants associated with breast cancer risk, the majority of which were discovered in women of European ancestry. (unc.edu)
- METHODS: We tested 74 breast cancer risk variants and conducted fine-mapping of these susceptibility regions in 6,522 breast cancer cases and 7,643 controls of African ancestry from three genetic consortia (AABC, AMBER and ROOT). (unc.edu)
- Cancer Council Victoria and University of Melbourne researchers are at the forefront of the discovery of seventy-two new genetic variants that predict the risk of developing breast cancer, as part of a major international collaboration. (cancervic.org.au)
- 65 of the newly discovered variants are common variants that predict breast cancer risk and a further seven specifically predict risk of oestrogen receptor-negative breast cancer - these are tumours that do not respond to hormonal therapies, such as the drug tamoxifen. (cancervic.org.au)
- This study also allowed us to confirm many genetic variants that we had previously suspected were implicated in breast cancer risk. (cancervic.org.au)
- Cancer Council Victoria's Professor Graham Giles said: "Given the size of these studies, we expected that we would find a lot of new breast cancer risk variants, but the study tells us a lot more about which genes are involved, revealing many previously unsuspected genes and genetic mechanisms underlying breast cancer. (cancervic.org.au)
- Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. (semanticscholar.org)
- Finally, network modeling of the effects of variants on germline gene expression showed higher connectivity than expected by chance between novel candidates and with known susceptibility genes, which supports functional relationships and provides mechanistic hypotheses of risk. (cipf.es)
- CONCLUSION: This study proposes that cell communication and cell death are major biological processes perturbed in risk of breast cancer conferred by low-penetrance variants, and defines the common omic properties, molecular interactions and possible functional effects of candidate genes and proteins. (cipf.es)
- Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. (kuleuven.be)
- Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. (cam.ac.uk)
- Index variants in five additional regions previously associated with only one cancer also showed clear association with a second cancer type. (surrey.ac.uk)
- Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. (semanticscholar.org)
- Fine-mapping CASP8 risk variants in breast cancer. (semanticscholar.org)
- Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. (semanticscholar.org)
- From all rare damaging variants, 22 variants in 21 DNA repair geneswere genotyped in 3,166 breast cancer patients, 569 ovarian cancer patients, and 2,090 controls, all from the Helsinki or Tampere regions of Finland. (elsevier.com)
- Though CHEK2 has been identified as an intermediate breast cancer susceptibility gene, only a small proportion of high-risk families have been explained by genetic variants located in its coding region. (biomedcentral.com)
- Conclusion: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2. (warwick.ac.uk)
- 0.1% and combining protein-truncating variants, likely spliceogenic variants, and key functional domain rare missense substitutions, we found significant evidence that the MRN genes are indeed intermediate-risk breast cancer susceptibility genes (odds ratio (OR) = 2.88, P = 0.0090). (biomedcentral.com)
- We evaluated the effect of these colorectal cancer-associated variants on the risk of breast cancer in a Chinese Han population. (cdc.gov)
- Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic variants studied in relation to breast cancer. (biomedcentral.com)
- Several studies have attempted to assess the potential implication of the gene's more common variants in breast cancer susceptibility. (biomedcentral.com)
- What remains unclear is the role of other ATM variants in breast cancer etiology. (biomedcentral.com)
- These findings raise the question of whether other ATM variants also influence breast cancer risk. (biomedcentral.com)
- Several case-control studies have evaluated non-A-T-causing coding variants in ATM and their association with breast cancer risk, the majority focusing on missense variants. (biomedcentral.com)
- We confirmed the usefulness of our methodology by successfully identifying functional variants in four breast cancer and nine schizophrenia susceptibility loci. (frontiersin.org)
- no risk variants for breast cancer have been identified solely from African ancestry GWAS data. (meta.org)
- We hypothesized that these SNPs might influence breast tumour development and progression by affecting the efficiency of the antitumour immune response and/or pathways of angiogenesis. (nih.gov)
- These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study. (nih.gov)
- A PRS, based on nine SNPs interacting with RT in the occurrence of breast cancer after HL, also increased RT-induced breast cancer risk. (bloodjournal.org)
- We therefore examined 211,155 germline single nucleotide polymorphisms (SNPs) for gene-radiation interaction on breast cancer risk in a case-only analysis including 327 breast cancer patients after chest RT for HL and 4,671 first primary breast cancer patients. (bloodjournal.org)
- We evaluated these SNPs with the risk of breast cancer and further by estrogen receptor status in a population-based study of 6,498 cases and 3,999 controls in Chinese women. (aacrjournals.org)
- In the fine-mapping analysis, five SNPs showed a consistent association with breast cancer risk in both stages: rs10169372 (2q35), rs283720 (8q24.21), rs10515083 (17q23.2/ COX11 ), rs16955329 (17q23.2/ COX11 ), and rs2787487 (17q23.2/ COX11 ). (aacrjournals.org)
- This study shows that approximately half of the SNPs initially reported from GWAS of breast cancer in European descendants can be directly replicated in Chinese. (aacrjournals.org)
- Using data from the Shanghai Breast Cancer Study, a population-based case-control study, we previously evaluated 11 SNPs identified initially in GWAS conducted in women of European ancestry ( 12 ). (aacrjournals.org)
- We included 42,510 female breast cancer cases and 40,577 controls of European ancestry from 37 studies in the Breast Cancer Association Consortium (2015) with available genotype data for 3595 single nucleotide polymorphisms (SNPs) in 133 candidate genes. (whiterose.ac.uk)
- Associations between genotyped SNPs and overall breast cancer risk, and secondarily according to estrogen receptor (ER) status, were assessed using multiple logistic regression models. (whiterose.ac.uk)
- We aimed to assess all two-way interactions in breast cancer susceptibility between 70 917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. (kuleuven.be)
- In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. (kuleuven.be)
- We assessed departures from additivity on the absolute risk scale between 9 established breast cancer risk factors and 23 susceptibility single-nucleotide polymorphisms (SNPs) identified from genome-wide association studies among 10,146 non-Hispanic white breast cancer cases and 12,760 controls within the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium. (ox.ac.uk)
- We also compared additive and multiplicative polygenic risk prediction models using per-allele odds ratio estimates from previous studies for breast-cancer susceptibility SNPs and observed that the multiplicative model had a substantially better goodness of fit than the additive model. (ox.ac.uk)
- We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. (warwick.ac.uk)
- Results: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. (warwick.ac.uk)
- Linkage analysis provided an effective genome-wide approach for locating high-risk susceptibility genes, and genome-wide association study provided an effective approach for finding risk-associated SNPs. (biomedcentral.com)
- Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. (cdc.gov)
- Three SNPs (rs7014346, rs989902, and rs7003146) were found to be significantly associated with the susceptibility of breast cancer. (cdc.gov)
- Studies aimed at identifying miRNA SNPs (miR-SNPs) associated with breast malignancies could lead towards further understanding of the disease and to develop clinical applications for early diagnosis and treatment. (biomedcentral.com)
- We genotyped a panel of 24 miR-SNPs using multiplex PCR and chip-based matrix assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry (MS) analysis in two Caucasian breast cancer case control populations (Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls). (biomedcentral.com)
- Statistical analysis showed six miR-SNPs to be non-polymorphic and twelve of our selected miR-SNPs to have no association with breast cancer risk. (biomedcentral.com)
- Twenty-four single nucleotide polymorphisms (SNPs) that were predicted to affect the binding affinity of breast cancer-related miRNAs to 3′-untranslated regions (UTR) of known genes were genotyped in 878 breast cancer cases and 900 controls in Chinese women. (oup.com)
- Three promising SNPs (rs10494836, rs10857748 and rs7963551) were further validated in additional 914 breast cancer cases and 967 controls. (oup.com)
- Recently, the list of BC-associated common single nucleotide polymorphisms (SNPs) and chromosomal loci in low-penetrance susceptibility genes have been expanded in genomewide association studies. (who.int)
- Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1. P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. (meta.org)
- Polymorphisms in the KDR and POSTN genes : association with breast cancer susceptibility and prognosis. (diva-portal.org)
- There was no association with breast cancer susceptibility. (biomedcentral.com)
- CONCLUSION: Epigenetic age acceleration and CpG island methylation have a weak, but statistically significant, association with breast cancer susceptibility. (ox.ac.uk)
- Such mutations confer elevated breast and ovarian cancer risk, in comparison to the general population, while diagnosis usually occurs in young ages. (els.net)
- These data establish that MRE11A , RAD50 , and NBN are intermediate-risk breast cancer susceptibility genes. (biomedcentral.com)
- Department of Medical Oncology, National Cancer Center, Singapore. (nih.gov)
- The incorporation of genetic information into clinical oncology practice is a process in evolution, necessitating consideration of cancer risk assessment, ethical and social implications of testing and efficacy of treatment, and prevention interventions. (nih.gov)
- Daily online exclusives cover late breaking oncology news, safe handling and administration of chemotherapy drugs, side effect management, and new developments in specific cancers. (oncologynurseadvisor.com)
- Molecular oncology A tumor suppressor gene linked to breast and ovarian CA See Tumor suppressor gene . (thefreedictionary.com)
- 4 Parkville Familial Cancer Clinic, Sir Peter MacCallum Department of Oncology, University of Melbourne and Royal Melbourne Hospital, East Melbourne, Victoria, Australia. (cdc.gov)
- The ELISA Genie Dog Breast cancer type 1 susceptibility protein homolog (BRCA1) ELISA Kit can assay for Dog Breast cancer type 1 susceptibility protein homolog in the following samples: serum, blood, plasma, cell culture supernatant and other related supernatants and tissues. (elisagenie.com)
- How do our Dog Breast cancer type 1 susceptibility protein homolog (BRCA1) ELISA Kits work? (elisagenie.com)
- The ELISA Genie Dog Breast cancer type 1 susceptibility protein homolog (BRCA1) ELISA Kits are designed for the quantitative measurement of analytes in a wide variety of samples. (elisagenie.com)
- The amount of bound Dog Breast cancer type 1 susceptibility protein homolog is proportional to the signal generated by the reaction meaning the Dog Breast cancer type 1 susceptibility protein homolog (BRCA1) ELISA Kit assay gives you a quantitative measurement of the analyte in your samples. (elisagenie.com)
- context" : "http://schema.org", "@type" : "Product", "name" : " Rat Breast cancer type 1 susceptibility protein homolog (Brca1) ELISA Kit", "image" : "https://www.elisagenie. (elisagenie.com)
- context" : "http://schema.org", "@type" : "Product", "name" : " Human Breast cancer type 1 susceptibility protein (BRCA1) ELISA Kit", "image" : "https://www.elisagenie. (elisagenie.com)
- Recent genome-wide association studies (GWAS), mostly conducted among women of European ancestry, have identified 16 single-nucleotide polymorphisms (SNP) associated with breast cancer. (aacrjournals.org)
- Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. (ox.ac.uk)
- Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. (warwick.ac.uk)
- Recent genome wide association studies (GWAS) and candidate gene studies have revealed many novel loci associated with colorectal cancer susceptibility. (cdc.gov)
- We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in approximately 70,000 cases and approximately 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. (ru.nl)
- In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. (lu.se)
- In conclusion, genetic or epigenetic loss-of-function mutations of genes that are known to be involved in the repair of DNA damage may lead to increased risk of developing a broad spectrum of breast and ovarian cancers. (spandidos-publications.com)
- Breast and ovarian cancers (5-10%) may be hereditary and occur in cancer prone syndromes ( 2 - 7 ). (spandidos-publications.com)
- Patients predisposed to breast and ovarian cancers are known as the hereditary breast and ovarian cancer (HBOC) syndrome. (spandidos-publications.com)
- Germline mutations in these genes account for 2-5% (up to 10%) of all breast cancers and all ovarian cancers. (spandidos-publications.com)
- BRCA1 mutations cause 40% of inherited breast cancers and over 80% of inherited breast and ovarian cancers. (thefreedictionary.com)
- Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. (nih.gov)
- Mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published today in the American Journal of Human Genetics. (redorbit.com)
- 38 Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. (nih.gov)
- Among the senior authors is Dr. William Foulkes, a renowned expert in cancer genetics at the Lady Davis Institute at the Jewish General Hospital and Director of the Program in Cancer Genetics at McGill University. (healthcanal.com)
- Gould is based at the McArdle Laboratory for Cancer Research and is an expert on breast cancer genetics. (uwhealth.org)
- Information about genetics, family history and cancer. (cancervic.org.au)
- Genetics of breast cancer: a topic in evolution. (semanticscholar.org)
- Their approach, described in a study posted online by the journal Nature Genetics, used advanced laboratory techniques plus novel "data mining" approaches to discover new cancer-related genes. (technologynetworks.com)
- As part of an international breast cancer genetics study aiming to investigate candidate genes conferring an intermediate-risk of breast cancer, we mutation screened the coding exons and the adjacent proximal introns of CHEK2 in 1415 cases and 1204 controls. (biomedcentral.com)
- 1 Division of Cancer Molecular Genetics, Prince Fahd Bin Sultan Research Chair, Department of Medical Lab Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia. (waocp.org)
- 3 Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK. (cdc.gov)
- In this study, we evaluated four newly identified loci for breast cancer risk from recent GWAS conducted among Europeans or European Americans. (aacrjournals.org)
- The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. (escholarship.org)
- Functionality of the DHFR 19bp deletion polymorphism and its association with breast cancer risk among multivitamin users. (aacrjournals.org)
- We aimed to determine the role of this Endostatin polymorphism in breast cancer pathogenesis and any influence on serum Endostatin levels in healthy volunteers. (biomedcentral.com)
- A (coding non-synonymous) polymorphism in exon 42 of the Endostatin gene was genotyped in approximately 846 breast cancer cases and 707 appropriate controls. (biomedcentral.com)
- A polymorphism however does not appear to be associated with breast cancer susceptibility or severity in invasive disease. (biomedcentral.com)
- By contrast, few studies have investigated the influence of the MTHFR C677T polymorphism on breast cancer risk. (biomedcentral.com)
- Another study of unselected breast cancer cases among a Scottish population did not detect any association with the C677T polymorphism and breast cancer risk [ 18 ], although the study involved only 62 cases and 66 controls and lacked statistical power. (biomedcentral.com)
- Given the plausible role of variations in MTHFR activity in breast cancer susceptibility we undertook an analysis of the C677T polymorphism in a case-control study of 335 women with breast cancer and 233 controls. (biomedcentral.com)
- Among the 106 found polymorphisms (including the 27 described above) we tested an additional 44 polymorphisms for association with disease and identified a 5-bases tandem repeat polymorphism, NT_011109.15 g.18147012dupATTTT(2_11), here called RAI -3'd1, which discriminates cases from controls better than any previously investigated polymorphism in this region, and which may well be the effector causing this haplotype block to associate with cancer. (biomedcentral.com)
- Previous studies have investigated the association of X-Ray Repair Cross-Complementing Group 2 (XRCC2) rs3218536 polymorphism with breast and ovarian cancer. (waocp.org)
- Therefore, we have performed the current systematic review and meta-analysis to clarify the association between XRCC2 rs3218536 polymorphism with risk of breast and ovarian cancer. (waocp.org)
- We conducted a search in PubMed, Google Scholar and ISI Web of Science to select relevant studies on the association of XRCC2 rs3218536 polymorphism with breast and ovarian cancer susceptibility. (waocp.org)
- A total of 17 studies with 5694 cases and 6450 controls for breast cancer and nine case-control studies with 4464 cases and 6353 controls for ovarian cancer were identified for the analysis of the association with XRCC2 rs3218536 polymorphism. (waocp.org)
- The pooled ORs revealed that XRCC2 rs3218536 polymorphism was associated with breast cancer under the heterozygote contrast (AG vs. GG: OR = 0.929, 95% CI = 0.873-0.987, p=0.018) and ovarian cancer under dominant contrast (AA+AG vs. GG: OR = 0.725, 95% CI = 0.537-0.979, p=0.036) in the overall population. (waocp.org)
- The stratified analysis indicated a significant association of XRCC2 rs3218536 polymorphism with breast and ovarian cancer risk among Caucasians. (waocp.org)
- Inconsistent with previous meta-analysis, this meta-analysis shows that the XRCC2 rs3218536 polymorphism was associated with breast and ovarian cancer risk in overall population, especially among Caucasians. (waocp.org)
- Association of XRCC2 rs3218536 Polymorphism with Susceptibility of Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis', Asian Pacific Journal of Cancer Prevention , 18(7), pp. 1743-1749. (waocp.org)
- In the National Cancer Institute Cancer Genetic Markers of Susceptibility (CGEMS) genome-wide association study of breast cancer, a single nucleotide polymorphism (SNP) marker, rs999737, in the 14q24.1 interval, was associated with breast cancer risk. (fredhutch.org)
- low penetrance susceptibility polymorphism breast cancer. (who.int)
- Our study confirms the importance of screening for mutations in breast cancer susceptibility genes in all African American breast cancer patients diagnosed by age 45, those with a family history of breast or ovarian cancer, or with triple-negative breast cancer before age 60," said study author Jane Churpek, MD, of the University of Chicago Medicine. (oncologynurseadvisor.com)
- The majority of cancer cases are considered sporadic-appearing tumors in nature because there is no obvious family history, but a number of families with a known genetic cause or inherited predisposition to cancer have been identified ( 1 ). (spandidos-publications.com)
- There is an increasing understanding that the interrelationship between BRCA gene cluster and Fanconi anemia (FA), mismatch repair (MMR) and DNA repair gene status plays a key role in the pathogenesis of cancer predisposition syndromes. (spandidos-publications.com)
- Its disruption in human cells causes genomic instability and cancer predisposition. (bl.uk)
- Fanconi anemia is associated with chromosome instability and a predisposition to cancer (reviewed in ref. 20 ). (aacrjournals.org)
- We aimed to investigate the mutation prevalence and spectra in a highly selected cohort of Greek patients with BC, questioning an extensive number of genes, implicated in cancer predisposition and DNA repair, while calculating gene-specific BC risks that can ultimately lead to important associations. (bmj.com)
- Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology for the majority of families with a multi-generational breast cancer predisposition is unknown. (prolekare.cz)
- Our data demonstrate the utility of intra-family exome-sequencing approaches to uncover cancer predisposition genes, but highlight the major challenge of definitively validating candidates where the incidence of sporadic disease is high, germline mutations are not fully penetrant, and individual predisposition genes may only account for a tiny proportion of breast cancer families. (prolekare.cz)
- Importantly, the identification and management of individuals with high-risk breast cancer predisposition gene mutations is now well accepted in clinical practice. (prolekare.cz)
- These findings identify FANCM as a breast cancer susceptibility gene, mutations in which confer a particularly strong predisposition for TNBC. (elsevier.com)
- Germline mutations in cancer susceptibility genes cause cancer if the wild-type allele is lost or inactivated. (spandidos-publications.com)
- The rare allele (A) was significantly associated with invasive breast cancers compared to non-invasive tumours (p = 0.03), but there was no association with tumour grade, nodal status, vascular invasion or overall survival. (biomedcentral.com)
- The Endostatin 4349A allele is associated with invasive breast cancer. (biomedcentral.com)
- The variant allele (C) of rs7963551 at 3′-UTR of RAD52 showed a consistently reduced breast cancer risk in two stages with a combined odds ratio (OR) of 0.84 [95% confidence interval (CI) = 0.75-0. which was more prominent among women with early age at first live birth (OR = 0.71, 95% CI = 0.58-0.87). (oup.com)
- 3 Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. (nih.gov)
- 28 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany. (nih.gov)
- 6 Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California. (aacrjournals.org)
- 9 Sylvester Comprehensive Cancer Center and Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Miami, Florida. (aacrjournals.org)
- 11 Department of Epidemiology, Gillings School of Global Public Health and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina. (aacrjournals.org)
- Associate Professor Roger Milne, Head of the Cancer Epidemiology and Intelligence Division at Cancer Council Victoria and one of the lead investigators on the study, said: "These findings add substantially to our understanding of the inherited causes of breast cancer. (cancervic.org.au)
- 15 Cancer Risk Factors and Life-Style Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network - ISPRO, Florence, Italy. (cdc.gov)
- genes, which constitute the most important of the known breast cancer susceptibility genes in terms of high penetrance and clinical significance. (els.net)
- At least 15 more genes have been associated with breast cancer susceptibility, most of which show intermediate penetrance and are rarely mutated. (els.net)
- Through a candidate gene approach, mutations in other high and moderate penetrance cancer-susceptibility genes have been identified in a further small proportion of families but the underlying etiology of the increased susceptibility to breast cancer in the majority of multi-case breast cancer families remains unknown. (prolekare.cz)
- In this scenario, biological attributes beyond the adjusted statistics generally receive little attention and, more importantly, the fundamental biological characteristics of low-penetrance susceptibility genes have yet to be determined. (cipf.es)
- METHODS: We applied an integrative approach for identifying candidate low-penetrance breast cancer susceptibility genes, their characteristics and molecular networks through the analysis of diverse sources of biological evidence. (cipf.es)
- It is revealed that the variations of low-penetrance susceptibility genes are important for carcinogenesis as they interact with the environmental and hereditary factors. (who.int)
- The study may partially explain why African Americans more often develop early onset and "triple-negative" breast cancer. (oncologynurseadvisor.com)
- The low activity C677T (valine) genotype of MTHFR may increase the risk of early onset breast cancer. (biomedcentral.com)
- CHEK2 functions downstream of ATM (Ataxia-telangiectasia mutated) to phosphorylate several substrates, including TP53 (Tumour protein p53), Cdc25C (Cell division cycle 25C) and BRCA1 (Breast cancer 1, early onset), leading to cell cycle arrest, activation of DNA repair or apoptosis in response to DNA double-stranded breaks. (biomedcentral.com)
- Using high-resolution melt curve analysis followed by Sanger sequencing, we mutation screened the coding exons and proximal splice junction regions of the MRN genes in 1,313 early-onset breast cancer cases and 1,123 population controls. (biomedcentral.com)
- The evolution of sequencing technologies led to the identification of additional candidate breast cancer genes, most of which are considered to confer intermediate susceptibility. (els.net)
- We identified monoallelic truncating PALB2 mutations in 10/923 individuals with familial breast cancer compared with 0/1,084 controls (P = 0.0004) and show that such mutations confer a 2.3-fold higher risk of breast cancer (95% confidence interval (c.i.) = 1.4-3.9, P = 0.0025). (semanticscholar.org)
- Mutations in some of these genes confer a relatively high risk of cancer (referred to as high risk cancer genes), while other genes increase the cancer risk by a modest amount (moderate risk cancer genes). (uhhospitals.org)
- Cytokine gene polymorphisms and breast cancer susceptibility and prognosis. (nih.gov)
- Endostatin protein expression on a breast cancer micro array was also studied to determine any relationship to genotype and to breast cancer prognosis. (biomedcentral.com)
- Our results indicate a potential use for ROS as a target for therapy in the TNBC subtype which currently has the worst prognosis among all breast cancers and remains as the only breast cancer subtype which lacks a targeted therapy. (figshare.com)
- The effect was more pronounced among the cases with a breast cancer diagnosis under the age of 40 years, with an odds ratio of 1.66 (95% confidence interval 1.12-2.41). (biomedcentral.com)
- The association of genotypes with susceptibility to breast cancer was analyzed using the odds ratio (OR), with 95% confidence interval (CI) and logistic regression. (cdc.gov)
- Association to breast cancer susceptibility was determined using chi-square ( X 2 ) and odds ratio (OR) analysis. (biomedcentral.com)
- It's reasonably likely that a breast cancer patient who has a mutation in XRCC2 will respond well to treatment with PARP inhibitors," said Tavtigian. (redorbit.com)
- BRCA mutation carriers face a lifetime risk for both breast and ovarian cancer that can be as high as 82% and 44%, respectively. (els.net)
- 2011) Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. (els.net)
- The risk for breast cancer in women with the mutation of RAD51C is 60 to 80 percent, for ovarian cancer 20 to 40 percent. (mytum.de)
- Lifetime cancer risks in BRCA mutation carriers are 60-80% for breast cancer and 20-40% for ovarian cancer. (spandidos-publications.com)
- Individuals who carry an inherited genetic mutation and epigenetic aberrations in the tumor suppressor genes have an increased lifetime risk of developing cancer. (spandidos-publications.com)
- Finding a mutation without knowing its association to breast cancer isthe equivalent of a false positive, where the patient ends up suffering anxiety for no reason. (healthcanal.com)
- Among the 249 women studied, 56 (22%) had inherited at least one damaging mutation that increased their risk of breast cancer. (oncologynurseadvisor.com)
- Patients most likely to carry a mutation were those diagnosed with a second primary tumor, and 49% of those women carried an inherited breast cancer-associated gene mutation. (oncologynurseadvisor.com)
- This statement summarizes the U.S. Preventive Services Task Force (USPSTF) recommendations on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility, along with the supporting scientific evidence. (annals.org)
- Standardised incidence ratios (SIR) and lifetime cumulative incidence calculations were used to compare the incidence of breast cancer in mutation carriers with the general population. (bmj.com)
- Results Forty-one mutation carriers diagnosed with breast cancer belonging to 34 unrelated families were identified. (bmj.com)
- The SIR for breast cancer of female MSH2 mutation carriers in our cohort was 3.11 (95% CI 1.95 to 4.71). (bmj.com)
- Conclusions An increased risk of breast cancer in MSH2 mutation carriers was demonstrated in a Canadian familial cancer registry. (bmj.com)
- All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. (lu.se)
- Additional screening of FANCC mutation hotspot exons identified one pathogenic mutation among an additional 957 breast cancer families. (prolekare.cz)
- A Germline Mutation in the BRCA1 3'UTR Variant Predicts Susceptibility to Breast Cancer in a Saudi Arabian Population', Asian Pacific Journal of Cancer Prevention , 19(3), pp. 859-866. (waocp.org)
- Only 5 to 10 percent of all breast and ovarian cancer cases are hereditary, that is, the result of a genetic mutation in a single gene that is being passed down through a family. (uhhospitals.org)
- For the first time, a mutation in HIF2α, a specific group of genes known as transcription factors that is involved in red blood cell production and cell metabolism, has been identified in cancer tumor cells. (huntsmancancer.org)
- Only about 30 percent of the familial risk for breast cancer can be explained by a combination of mutations to and common sequence variation in the known breast cancer susceptibility genes. (redorbit.com)
- The study also benefited from resources gathered by the Breast Cancer Family Registry, the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, and several other breast cancer research efforts taking place around the world. (innovations-report.com)
- The gene newly identified as causing breast and ovarian cancer in familial cases is designated RAD51C. (mytum.de)
- 33 Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany. (nih.gov)
- Methods Pedigrees of 325 unrelated families with LS within the Familial Gastrointestinal Cancer Registry in Canada were examined for breast cancer diagnoses. (bmj.com)
- The signaling events that drive familial breast cancer (FBC) risk remain poorly understood. (embopress.org)
- Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. (cam.ac.uk)
- Familial Breast Cancer, S. (ru.nl)
- All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction. (lu.se)
- 11 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK. (nih.gov)
- They are also likely to provide a basis for a change in the way we practice breast screening for early detection of breast cancer" said Professor Melissa Southey, Chair of Precision Medicine at Monash University and a member of The University of Melbourne's Centre for Cancer Research at the Victorian Comprehensive Cancer Centre. (cancervic.org.au)
- Learn about cancer treatments and find your local treatment centre. (cancervic.org.au)
- A Phase III, Open Label, Randomised, Controlled, Multi-centre Study to Assess the Efficacy and Safety of Olaparib Monotherapy Versus Physician's Choice Single Agent Chemotherapy in the Treatment of Platinum Sensitive Relapsed Ovarian Cancer in Patients Carrying Germline BRCA1/2 Mutations. (canadiancancertrials.ca)
- 1 The Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, UK. (cdc.gov)
- 2 The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK. (cdc.gov)
- The BBCS is funded by Cancer Research UK and Breakthrough Breast Cancer and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). (edu.au)
- DietCompLyf study: a multi-centre UK study on breast cancer. (westminster.ac.uk)
- The mission of Huntsman Cancer Institute (HCI) at the University of Utah is to understand cancer from its beginnings, to use that knowledge in the creation and improvement of cancer treatments, to relieve the suffering of cancer patients, and to provide education about cancer risk, prevention, and care. (innovations-report.com)
- A new compound shows promise in patient leukemia samples when current treatments fail, say researchers from Huntsman Cancer Institute (HCI) at the University of Utah (U of U). (huntsmancancer.org)
- Huntsman Cancer Institute (HCI) at the University of Utah is now offering lung-cancer screening using low-radiation CT (computed tomography) technology. (huntsmancancer.org)
- Huntsman Cancer Institute at the University of Utah (HCI) today announced that Jon M. Huntsman, Jr. will be appointed to the position of Chairman of the Huntsman Cancer Foundation (the Foundation), effective immediately. (huntsmancancer.org)
- Huntsman Cancer Institute dedicates its new state-of-the-art $100 million expansion of its cancer hospital. (huntsmancancer.org)
- Researchers from Huntsman Cancer Institute (HCI) at the University of Utah have discovered a new way to model human breast cancer that could lead to new tools for predicting which breast cancers will spread and new ways to test drugs that may stop its spread. (huntsmancancer.org)
- Sporadic breast cancers with TP53 mutations or epigenetic silencing (hypermethylation), ER- and PgR-negative status, an earlier age of onset and high tumor grade resemble phenotypically BRCA1 mutated cancers termed 'BRCAness', those with no BRCA mutations but with a dysfunction of the DNA repair system. (spandidos-publications.com)
- HBOC syndrome is an autosomal dominantly inherited disease characterized by a young age of onset, more than one synchronous or metachronous tumor, and a family history of first and second degree relatives with similar cancers ( 8 ). (spandidos-publications.com)
- Dallol A, Da Silva NF, Viacava P, Minna JD, Bieche I, Mahe ER, Latif F (2002) SLIT2, a human homologue of the Drosophila Slit2 gene, has tumor suppressor activity and is frequently inactivated in lung and breast cancers. (springer.com)
- however, their function within the breast tumor microenvironment (TME) remains controversial. (frontiersin.org)
- Their potent anti-cancer activity and excellent safety profile ( 7 ), combined with their non-reliance on tumor mutational loads ( 8 ), and improved expansion protocols ( 9 - 13 ) are catapulting γδ T cells into the limelight ( 14 , 15 ). (frontiersin.org)
- In this study, we found differences in mitochondrial morphology in breast cancer cells when compared to a non-tumorigenic cell line and differences in mitochondrial function among breast cancer subtypes when exploring gene-expression data from the TCGA tumor dataset. (figshare.com)
- Gene expression analyses were conducted using RNA sequencing level 3 data from The Cancer Genome Atlas for 989 breast tumor samples and 113 matched normal tissue samples. (whiterose.ac.uk)
- Furthermore, STAT3 and IL5 but not GM-CSF were differentially expressed between breast tumor tissue and normal tissue (p value = 2.5 × 10−3, 4.5 × 10−4 and 0.63, respectively). (whiterose.ac.uk)
- Geneticists Stephen Gruber, MD, PhD, MPH, and Kenneth Offit, MD, at the University of Michigan and New York University, respectively, examined breast tumor samples from patients in Israel and New York and found that those with an error in HMMR were three to four times more likely to develop breast cancer than those without it. (technologynetworks.com)
- Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. (semanticscholar.org)
- Consortium CBCC‐C (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. (els.net)
- CYP17 Genetic variation and breast cancer risk: results from the NCI Breast and Prostate Cancer Cohort Consortium. (aacrjournals.org)
- Thirty-eight international studies contributed data for 46 450 breast cancer cases and 42 461 controls of European origin as part of a multi-consortium project (COGS). (kuleuven.be)
- Data from 24 studies of the Breast Cancer Association Consortium were pooled. (semanticscholar.org)
- Kraft P., Breast and Prostate Cancer Cohort Consortium (BPC3) None. (ox.ac.uk)
- These results reinforce our assumption that various rare gene mutations contribute to hereditary breast and ovarian cancer. (mytum.de)
- Women with hereditary breast and ovarian cancer (HBOC) syndrome represent a unique group who are diagnosed at a younger age and result in an increased lifetime risk for developing breast, ovarian and other cancers. (spandidos-publications.com)
- what is National Hereditary Breast and Ovarian Cancer (HBOC). (brca2.com)
- 2013) Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. (els.net)
- Hurtubise A, Momparler RL (2004) Evaluation of antineoplastic action of 5-aza-2′-deoxycytidine (Dacogen) and docetaxel (Taxotere) on human breast, lung and prostate carcinoma cell lines. (springer.com)
- It has been reported that Breast Cancer Susceptibility gene-1 & 2 (BRCA1 & 2 are potential molecular targets for chemoprevention by isoflavone genistein (4′ 5, 7-trihydroxy isoflavone), in breast and prostate cancer cells. (amrita.edu)
- Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis but this has not been investigated systematically by genome-wide association (GWA) studies. (surrey.ac.uk)
- In men, the most common cancers are prostate and male breast cancer. (uhhospitals.org)
- Through fine-mapping, in six regions (3p24, 12p11, 14q13, 16q12/FTO, 16q23, 19p13) we observed seven markers that better represent the underlying risk variant for overall breast cancer or breast cancer subtypes, whereas in another two regions (11q13, 16q12/TOX3) we identified suggestive evidence of signals that are independent of the reported index variant. (unc.edu)
- 2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. (els.net)
- Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. (mytum.de)
- Rare germline mutations in PALB2 and breast cancer risk: a population-based study. (semanticscholar.org)