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)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.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)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)Breast Neoplasms: Tumors or cancer of the human BREAST.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.Genes, Neoplasm: Genes whose abnormal expression, or MUTATION are associated with the development, growth, or progression of NEOPLASMS.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.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.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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.Genetic Therapy: Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.Rad51 Recombinase: A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.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.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.DNA Damage: Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.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.Early Detection of Cancer: Methods to identify and characterize cancer in the early stages of disease and predict tumor behavior.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.Prostatic Neoplasms: Tumors or cancer of the PROSTATE.Cell Line, Tumor: A cell line derived from cultured tumor cells.Adenoviridae: A family of non-enveloped viruses infecting mammals (MASTADENOVIRUS) and birds (AVIADENOVIRUS) or both (ATADENOVIRUS). Infections may be asymptomatic or result in a variety of diseases.Genetic Vectors: DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.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.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.Lung Neoplasms: Tumors or cancer of the LUNG.Colonic Neoplasms: Tumors or cancer of the COLON.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Genes, Transgenic, Suicide: Genes that are used transgenically, i.e., via GENE TRANSFER TECHNIQUES to induce CELL DEATH.Stomach Neoplasms: Tumors or cancer of the STOMACH.Neoplasm Metastasis: The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.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).Oncogenes: Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.Neoplasm Invasiveness: Ability of neoplasms to infiltrate and actively destroy surrounding tissue.DNA, Neoplasm: DNA present in neoplastic tissue.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.Gene Transfer Techniques: The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.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.Antineoplastic Agents: Substances that inhibit or prevent the proliferation of NEOPLASMS.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.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)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.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.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.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.Prodrugs: A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug.Neoplasm Transplantation: Experimental transplantation of neoplasms in laboratory animals for research purposes.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.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.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.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.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.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.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.DNA Methylation: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.Gliosarcoma: Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated. (From Br J Neurosurg 1995 Apr;9(2):171-8)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.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.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.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.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.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: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)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.Survival Analysis: A class of statistical procedures for estimating the survival function (function of time, starting with a population 100% well at a given time and providing the percentage of the population still well at later times). The survival analysis is then used for making inferences about the effects of treatments, prognostic factors, exposures, and other covariates on the function.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.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.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.Drug Resistance, Neoplasm: Resistance or diminished response of a neoplasm to an antineoplastic agent in humans, animals, or cell or tissue cultures.DNA-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.Transplantation, Heterologous: Transplantation between animals of different species.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.Uterine Cervical Neoplasms: Tumors or cancer of the UTERINE CERVIX.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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Gene Regulatory Networks: Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations.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.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.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.Thymidine Kinase: An enzyme that catalyzes the conversion of ATP and thymidine to ADP and thymidine 5'-phosphate. Deoxyuridine can also act as an acceptor and dGTP as a donor. (From Enzyme Nomenclature, 1992) EC 2.7.1.21.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.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.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)Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.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.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Carcinoma, Non-Small-Cell Lung: A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Urinary Bladder Neoplasms: Tumors or cancer of the URINARY BLADDER.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.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.National Cancer Institute (U.S.): Component of the NATIONAL INSTITUTES OF HEALTH. Through basic and clinical biomedical research and training, it conducts and supports research with the objective of cancer prevention, early stage identification and elimination. This Institute was established in 1937.Neoplasm Staging: Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.Ganciclovir: An ACYCLOVIR analog that is a potent inhibitor of the Herpesvirus family including cytomegalovirus. Ganciclovir is used to treat complications from AIDS-associated cytomegalovirus infections.Prostate-Specific Antigen: A glycoprotein that is a kallikrein-like serine proteinase and an esterase, produced by epithelial cells of both normal and malignant prostate tissue. It is an important marker for the diagnosis of prostate cancer.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.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.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.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.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.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Transduction, Genetic: The transfer of bacterial DNA by phages from an infected bacterium to another bacterium. This also refers to the transfer of genes into eukaryotic cells by viruses. This naturally occurring process is routinely employed as a GENE TRANSFER TECHNIQUE.Coxsackie and Adenovirus Receptor-Like Membrane Protein: An Ig superfamily transmembrane protein that localizes to junctional complexes that occur between ENDOTHELIAL CELLS and EPTHELIAL CELLS. The protein may play a role in cell-cell adhesion and is the primary site for the attachment of ADENOVIRUSES during infection.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.MicroRNAs: Small double-stranded, non-protein coding RNAs, 21-25 nucleotides in length generated from single-stranded microRNA gene transcripts by the same RIBONUCLEASE III, Dicer, that produces small interfering RNAs (RNA, SMALL INTERFERING). They become part of the RNA-INDUCED SILENCING COMPLEX and repress the translation (TRANSLATION, GENETIC) of target RNA by binding to homologous 3'UTR region as an imperfect match. The small temporal RNAs (stRNAs), let-7 and lin-4, from C. elegans, are the first 2 miRNAs discovered, and are from a class of miRNAs involved in developmental timing.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.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.United StatesLiver Neoplasms: Tumors or cancer of the LIVER.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Disease-Free Survival: Period after successful treatment in which there is no appearance of the symptoms or effects of the disease.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.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.Sensitivity 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)Retroviridae: Family of RNA viruses that infects birds and mammals and encodes the enzyme reverse transcriptase. The family contains seven genera: DELTARETROVIRUS; LENTIVIRUS; RETROVIRUSES TYPE B, MAMMALIAN; ALPHARETROVIRUS; GAMMARETROVIRUS; RETROVIRUSES TYPE D; and SPUMAVIRUS. A key feature of retrovirus biology is the synthesis of a DNA copy of the genome which is integrated into cellular DNA. After integration it is sometimes not expressed but maintained in a latent state (PROVIRUSES).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.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.Mammary Neoplasms, Experimental: Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Neoplasms, Experimental: Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Carcinogenesis: The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Rectal Neoplasms: Tumors or cancer of the RECTUM.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Cisplatin: An inorganic and water-soluble platinum complex. After undergoing hydrolysis, it reacts with DNA to produce both intra and interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity of cisplatin correlates with cellular arrest in the G2 phase of the cell cycle.Endometrial Neoplasms: Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.RNA, Neoplasm: RNA present in neoplastic tissue.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.Mutation Rate: The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.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.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.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.Clonal Evolution: The process of accumulation of genetic and epigenetic changes over time in individual cells and the effect of the changes on CELL PROLIFERATION.Mice, Inbred BALB CAlgorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Mammography: Radiographic examination of the breast.Prostate: A gland in males that surrounds the neck of the URINARY BLADDER and the URETHRA. It secretes a substance that liquefies coagulated semen. It is situated in the pelvic cavity behind the lower part of the PUBIC SYMPHYSIS, above the deep layer of the triangular ligament, and rests upon the RECTUM.Dose-Response Relationship, Drug: The relationship between the dose of an administered drug and the response of the organism to the drug.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Neovascularization, Pathologic: A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions.Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.Neoplasms, Glandular and Epithelial: Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.Antineoplastic Agents, Phytogenic: Agents obtained from higher plants that have demonstrable cytostatic or antineoplastic activity.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.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.Medical Oncology: A subspecialty of internal medicine concerned with the study of neoplasms.Neoplastic Stem Cells: Highly proliferative, self-renewing, and colony-forming stem cells which give rise to NEOPLASMS.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)Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Protein Interaction Maps: Graphs representing sets of measurable, non-covalent physical contacts with specific PROTEINS in living organisms or in cells.Esophageal Neoplasms: Tumors or cancer of the ESOPHAGUS.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.Kidney Neoplasms: Tumors or cancers of the KIDNEY.Proto-Oncogene Proteins: Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.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)Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Transgenes: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.Mastectomy: Surgical procedure to remove one or both breasts.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.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.DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.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.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.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Tumor Burden: The total amount (cell number, weight, size or volume) of tumor cells or tissue in the body.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.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.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.Anticarcinogenic Agents: Agents that reduce the frequency or rate of spontaneous or induced tumors independently of the mechanism involved.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.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.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.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)
Replikacioni protein A1 - Википедија, слободна енциклопедија
New test predicts which BRCA2 gene mutations lead to breast, ovarian cancers
Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer | SpringerLink
Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. - PubMed - NCBI
Why Some Women With Healthy BRCA1 and BRCA2 Genes Develop Cancer
Questions About the BRCA1 and BRCA2 Gene Study and Breast Cancer | NHGRI
Mechanism of Cancer Caused by Loss of BRCA1 and BRCA2 Gene Function Identified
Germline BRCA2 Gene Mutations in Patients with Apparently Sporadic Pancreatic Carcinomas | Cancer Research
RDx BioScience Genetic Risk Testing Identifies Harmful Mutation in BRCA1 or BRCA2 Human Genes Indicating Higher Likelihood of...
Allelic Imbalance in BRCA1 and BRCA2 Gene Expression and Familial Ovarian Cancer | Cancer Epidemiology, Biomarkers & Prevention
Gene mutations BRCA1, BRCA2, PALB2 and your increased risk of cancer | CANCERactive
UNC scientists in study describing first purification of cancer gene, BRCA2 - Healthcanal.com : Healthcanal.com
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage...
In silico analysis of potential structural and functional significance of human breast cancer gene BRCA2 sequence...
Determining Carrier Probabilities for Breast Cancer-Susceptibility Genes BRCA1 and BRCA2
CONFIRMED: Exposure to aldehyde chemicals found to trigger the degradation of BRCA2 breast cancer genes in women - NaturalNews...
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene
Identifying a breast cancer gene - BRCA2 - The Institute of Cancer Research, London
Germline Mutations in the BRCA2 Gene and Susceptibility to Hereditary Prostate Cancer | Clinical Cancer Research
BRCAPRO Validation, Sensitivity of Genetic Testing ofBRCA1/BRCA2, and Prevalence of Other Breast Cancer Susceptibility Genes
Recommendations for the management of early breast cancer in women with an identified BRCA1 or BRCA2 gene mutation or at high...
DNA repair and cancer predisposition in cells which lack the breast cancer susceptibility gene, BRCA2 | Biochemical Society...
Altered Gene Expression in Morphologically Normal Epithelial Cells from Heterozygous Carriers of BRCA1 or BRCA2 Mutations |...
Get PDF - The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate...
Managing your risk of breast cancer if you have the BRCA1 or BRCA2 gene
BRCA1 and BRCA2 genes in ovarian cancer: ESMO Biomarker Factsheet
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene - Semantic Scholar
GeneticTumor suppRAD51Increased if she iVariantsPredisposeGermline mutation13q12-13GenomicRiskFamilial breast cancerHomologousResearchersAssociated with BRCA2 mutationsIncidencePathogenicRisksBRCA1 or BRCA2 MutationsOvarian cancer patientsRepresented by germline mutationsHigh-grade serous ovarian cancerPredisposition genesAbnormalMutations in genesAlleleWomen with ovarian cancerFaulty BRCA2 gene
Genetic84
- Sometimes a genetic sequencing test reveals a mutation in BRCA1 or BRCA2 that has not been definitively associated with cancer," he explains. (medindia.net)
- How Does a Common Gene Mutation Increase Genetic Susceptibility to Lung Cancer? (verywell.com)
- Genetic risk testing for a true negative result brings a personal sense of relief, while a positive test result may resolve uncertainties, allowing people to make informed decisions about their future healthcare and take steps to reduce cancer risk. (businesswire.com)
- Discovering that you have a genetic mutation means you can help prevent breast cancer or find it early, when the chances for successful treatment are highest," says Dr. Howell. (businesswire.com)
- Moreover, genetic testing doesn't just affect the individual, since test results also could predict a family member's cancer risks. (businesswire.com)
- Recent evidence suggests that unidentified BRCA1/2 variations or other genetic events may contribute to familial ovarian cancers. (aacrjournals.org)
- This suggests that other genetic events may contribute to familial ovarian cancers. (aacrjournals.org)
- Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. (nih.gov)
- Genetic testing of these two genes is nowadays commonly performed but almost half of found genetics alterations are declared as variants of unknown clinical significance. (srce.hr)
- Scientists knew that that breast cancer was common in some families and research groups around the world were searching for a genetic basis. (icr.ac.uk)
- To further address this issue, 266 subjects from 194 HPC families participating in the Seattle-based Prostate Cancer Genetic Research Study were screened for BRCA2 mutations by sequencing the coding regions, intron-exon boundaries, and suspected regulatory elements of this gene. (aacrjournals.org)
- Subjects ( n = 266) included in this study were selected from 194 HPC families participating in the Seattle-based Prostate Cancer Genetic Research Study and are a subset of 254 HPC families described previously for a genome-wide scan analysis ( 21 ). (aacrjournals.org)
- Such changes may play a role in progression to malignancy and therefore constitute targets for strategies to delay or prevent such progression in familial adenomatous polyposis and in other genetic predispositions to cancer. (aacrjournals.org)
- Predisposition to prostate cancer has a genetic component, and there are reports of familial clustering of breast and prostate cancer. (eurekamag.com)
- There are other factors in addition to genetic mutations that impact on the risk of developing cancer. (mariekeating.ie)
- BRCA1 and BRCA2 genomic regions harbour a very high density of repetitive DNA elements that contribute to genetic instability 5 . (esmo.org)
- By helping to repair DNA, the BRCA2 protein plays a critical role in maintaining the stability of a cell's genetic information. (medlineplus.gov)
- Other genetic, environmental, and lifestyle factors also contribute to a person's cancer risk. (medlineplus.gov)
- Breast and ovarian cancers that run in families can be caused by genetic changes, or mutations, most commonly in the BRCA1 and BRCA2 genes. (cdc.gov)
- Most women with a family health history of breast cancer don't need genetic counseling for breast and ovarian cancer. (cdc.gov)
- If your family health history of breast cancer is average or moderate risk, you probably won't need genetic counseling and testing for hereditary breast and ovarian cancer. (cdc.gov)
- Even if your doctor doesn't recommend genetic testing and counseling, your family health history of breast cancer can affect when you start mammography screening. (cdc.gov)
- Thus, you are more likely to benefit from genetic counseling and testing for mutations in BRCA1 and BRCA2 . (cdc.gov)
- If you have a personal history of ovarian, fallopian tube, or primary peritoneal cancer, some current guidelines recommend that you have genetic counseling and testing. (cdc.gov)
- If you have a personal history of breast cancer, genetic counseling and testing may or may not be recommended for you, depending on your age of diagnosis, type of breast cancer, presence of certain other cancers or cancer in both breasts, ancestry, and family health history of breast, ovarian, and other cancers. (cdc.gov)
- Genetic screens to detect carriers of variants can aid in cancer prevention by identifying individuals with a greater cancer risk and can potentially be used to predict the responsiveness of tumours to therapy. (bmj.com)
- Genetic testing for pathogenic variants in BRCA1 , BRCA2 and other cancer susceptibility genes is recommended for individuals with a strong family and/or personal history of HBOC (see figure 1 ), since risk preventative strategies improve outcomes. (bmj.com)
- In pursuit of identifying in humans genetic damage resulting from mutated BRCA2 , we have analyzed constitutional karyotypes of BRCA2 mutation carriers. (aacrjournals.org)
- Here we demonstrate that complex genetic damage of distal 9p is a recurrent feature in lymphocytes of individuals with BRCA2 mutation from independently ascertained families. (aacrjournals.org)
- These mutations might be identified through genetic testing using multigene panels, which look for mutations in several different genes at the same time. (cdc.gov)
- If one of your family members has a known BRCA1 or BRCA2 mutation, other family members who get genetic testing should be checked for that mutation. (cdc.gov)
- The Moroccan Lalla Salma Foundation Against Cancer has launched few years ago a periodical annual campaign for early breast cancer detection and eventually gives financially support for clinical and scientific studies aiming to contribute in establishing a national epidemiological database and in deciphering molecular and genetic pattern throughout the Moroccan populations. (omicsonline.org)
- Genetic testing of individuals with an enhanced risk of developing breast or ovarian cancer is routine clinical practice. (nature.com)
- For example, cancer cells exhibit uncontrolled growth in the body as a result of the genetic mutation, which can take over the health tissue and cause significant health implications. (news-medical.net)
- Breast cancers linked to these gene abnormalities tend to present in women at a younger age and affect both sides of the body, in comparison to cases of breast cancer without the genetic mutation. (news-medical.net)
- If your test result for the BRCA1 and BRCA2 mutations is negative, the genetic counselor will tell you what this means. (medlineplus.gov)
- The apparent discrepancy between expected and observed incidence of BRCA2 mutation-associated FA in high-frequency carrier populations has important implications for the genetic counselling of couples with recurrent miscarriages from high-risk populations. (bmj.com)
- If they think you may carry a BRCA1 or BRCA2 mutation, you may be offered a blood test to have genetic testing . (macmillan.org.uk)
- A BRCA1 or BRCA2 mutation may be found by a genetic blood test. (macmillan.org.uk)
- If genetic testing shows you have a BRCA1 or BRCA2 mutation, this does not mean you will definitely get cancer. (macmillan.org.uk)
- Sometimes genetic testing does not find a BRCA1 or BRCA2 mutation. (macmillan.org.uk)
- If you and/or some of your family members have been diagnosed with breast cancer, you may be interested in having genetic testing done. (breastcancer.org)
- To find a genetic counselor who specializes in family-related cancer risk, talk to your doctor or check with the hospitals and cancer centers in your area. (breastcancer.org)
- There should be more research at the molecular level among African women to identify genetic factors that may contribute to the risk of developing breast cancer. (hindawi.com)
- Our researchers map genetic mutations that cause the main subtype of oesophageal cancer in unprecedented detail. (cancerresearchuk.org)
- Professional societies do not recommend that children, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2. (medcraveonline.com)
- But the researchers of this latest study, led by Richard Houlston, professor of molecular population and genetics at The Institute of Cancer Research (ICR), say past studies have indicated that genetic factors may also increase lung cancer risk. (immunotherapychina.com)
- However, sometimes there is a specific genetic variation (or mutation in a gene), that is inherited from one parent that increases the risk of breast cancer. (nbcf.org.au)
- Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil. (rcaap.pt)
- Almost 5% of individuals with breast cancers are predisposed to the disease by genetic mutations. (biomedcentral.com)
- Genetic studies conducted in BRCA1 - and BRCA2 -defective cell lines [ 7 , 9 , 10 ] have further revealed that these tumour suppressor genes are required for maintenance of genome integrity and for normal levels of resistance to DNA damage. (biomedcentral.com)
- Some genetic abnormalities, or "gene mutations," may run in families. (healthfinder.gov)
- This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others). (healthfinder.gov)
- Defects at any step in this pathway may increase genetic instability, thereby leading to cancer susceptibility. (aacrjournals.org)
- Breast cancer treatment is much more personal than in the past, and we're able to tailor a woman's treatment based on the genetic makeup of her own cancer cells. (webmd.com)
- This progress has stimulated the development of genetic tests for predicting cancer susceptibility, and several such tests are already available commercially (for example, tests for hereditary retinoblastoma, colon cancer, and breast-ovarian cancer syndromes). (bmj.com)
- Research studies have shown that genetic changes and family history may increase a man s risk for prostate cancer. (clinicaltrials.gov)
- Researchers want to follow the prostate health of men who have specific genetic changes associated with prostate cancer to help them learn more about which men are at higher risk for prostate cancer. (clinicaltrials.gov)
- To study men with specific genetic changes and determine who is at higher risk for getting prostate cancer. (clinicaltrials.gov)
- To study if certain genetic changes and family history can be used to help prevent or treat prostate cancer. (clinicaltrials.gov)
- Persons assigned male at birth ages 30-75 who have one or more specific genetic changes but without prostate cancer. (clinicaltrials.gov)
- Prostate cancer has substantial inherited predisposition and certain genetic variants that are associated with an increased risk of prostate cancer. (clinicaltrials.gov)
- An evolving approach to prostate cancer screening is to target populations at risk of developing prostate cancer based on their genetic predisposition. (clinicaltrials.gov)
- Conclusions: Due to the proliferation of laboratories offering genetic tests for breast cancer susceptibility, their appropriate use in public health needs careful scrutiny. (elsevier.com)
- Several issues are raised when such genetic tests are considered for population-based prevention programs for breast cancer. (elsevier.com)
- If genetic tests for breast cancer are to be incorporated into future prevention programs, evaluation is needed of whether the testing can have the intended effect. (elsevier.com)
- Rochelle Gold wants to raise awareness of the genetic mutations linked to increased risk of breast and ovarian cancer. (yorkshireeveningpost.co.uk)
- Two years ago Rochelle Gold discovered she had a genetic mutation linked to breast cancer. (yorkshireeveningpost.co.uk)
- Hilary Tammer underwent genetic testing for the BRCA1 and BRCA2 mutations. (yorkshireeveningpost.co.uk)
- The test has genetic counselors and scientists concerned, because there are thousands of mutations associated with the BRCA1 and BRCA2 genes and this test screens for only three of them most commonly found in people of Ashkenazi (Eastern European) Jewish descent. (businessinsider.com)
- New data being presented during the 111th Annual Scientific Meeting of the American Urological Association (AUA) highlights new research on the role that genetic sequencing and testing could play in prostate cancer screening and treatment. (medicalnewstoday.com)
- African American men with prostate cancer may be more likely to have germline mutations in the BRCA1 and BRCA2 genes than Caucasian men with prostate cancer, suggesting that genetic testing could provide important information for treatment stratification. (medicalnewstoday.com)
- This chapter discusses the genetic and nongenetic risk factors of the disease along with potential prevention strategies and methods for early detection and screening of ovarian cancer. (nap.edu)
- In general, cancer risk increases with age, in part because of the natural accumulation of genetic alterations and long-term exposure to environmental factors. (nap.edu)
- As a result, specific germline (inherited) genetic mutations are among the most well-established risk factors associated with ovarian cancer (Shulman and Dungan, 2010). (nap.edu)
- Table 3-2 describes some common genetic mutations and hereditary cancer syndromes that are found among women with ovarian cancer. (nap.edu)
- A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 ( BRCA1/2 ) genes, which are considered high-penetrance BC genes. (conicyt.cl)
- The discovery of tumor suppressor genes BRCA1 (MIM 113705) and BRCA2 (MIM 600185) [ 4 , 5 ] was a major advance in elucidating the genetic etiology of BC. (conicyt.cl)
- No differences were found among individuals who had an inactivation of BRCA1 via a genetic mutation in the BRCA1 gene or inactivation of BRCA1 via an epigenetic mechanism. (cancernetwork.com)
- The 316 women with ovarian cancer, who were in the TCGA database that contains detailed clinical and genetic information, were analyzed for overall survival (OS) and progression-free survival (PFS) rates, chemotherapy response (both primary response and platinum-free duration after treatment), and mutation status. (cancernetwork.com)
- To our knowledge, this is the first reported case of a primary pancreatic squamous cell carcinoma in a patient with this particular genetic background of BRCA2 -associated HBOC. (hindawi.com)
- Women with high-grade ovarian cancer live longer and respond better to platinum-based chemotherapy when their tumors have BRCA2 genetic mutations, researchers at The University of Texas MD Anderson Cancer Center and the Institute for Systems Biology report in the Oct. 12 issue of the Journal of the American Medical Association. (mdanderson.org)
- Tumors with BRCA2 variations also are hypermutants - they had more genetic mutations - with 84 mutations per tumor sample compared to 52 for normal BRCA2. (mdanderson.org)
- This review describes the most frequent genetic alterations found in pancreatic cancer. (mdpi.com)
Tumor supp7
- The BRCA2 gene is a type of tumor suppressor gene . (verywell.com)
- observed that decreased expression of one of the adenomatous polyposis coli ( APC ) tumor suppressor gene alleles was associated with the development of familial adenomatous polyposis ( 7 ). (aacrjournals.org)
- We hypothesized that cells bearing a single inherited "hit" in a tumor suppressor gene express an altered mRNA repertoire that may identify targets for measures that could delay or even prevent progression to carcinoma. (aacrjournals.org)
- Both copies of a tumor suppressor gene must be altered or mutated before a person will develop cancer. (novanthealth.org)
- Tumor cells usually have lost the other, normal allele, often by loss of heterozygosity (4 , 5) , as if BRCA2 acts as a tumor suppressor gene. (aacrjournals.org)
- Molecular oncology A tumor suppressor gene linked to breast and ovarian CA See Tumor suppressor gene . (thefreedictionary.com)
- BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. (abnova.com)
RAD5114
- By studying the interaction between BRCA2 and RAD51, all three teams confirmed that BRCA2 helps RAD51 initiate filament growth. (healthcanal.com)
- A number of other hereditary ovarian cancers are associated with different genes, with a crucial role in the DNA damage response pathway, such as the mismatch repair genes in Lynch syndrome, TP53 in Li-Fraumeni syndrome, STK11 in Peutz-Jeghers syndrome, CHEK2, RAD51, BRIP1, and PALB2. (cdc.gov)
- Further, PALB2 interacts with other essential effectors of HR, including RAD51 and RAD51C, as well as BRCA2. (atlasgeneticsoncology.org)
- Mechanistically, PALB2 is required for HR by mediating the recruitment of BRCA2 and the RAD51 recombinase to sites of DNA damage. (atlasgeneticsoncology.org)
- Similar to bi-allelic loss-of-function mutations of BRCA1, BRCA2, RAD51 and RAD51C, bi-allelic mutations in PALB2 cause Fanconi anemia (FA), a rare childhood disorder which is associated with progressive bone marrow failure, congenital anomalies, and a predisposition to leukemia and solid tumors. (atlasgeneticsoncology.org)
- Furthermore, direct binding of human RAD51 to each of the four single 30-amino acid BRC repeats located at the 5′ portion of exon 11 of BRCA2 was demonstrated. (pnas.org)
- Such an interaction is significant, as BRCA2 and RAD51 can be reciprocally coimmunoprecipitated by each of the individual, specific antibodies and form complexes in vivo . (pnas.org)
- These results suggest that the interaction between the BRC repeats of BRCA2 and RAD51 is critical for cellular response to DNA damage caused by MMS. (pnas.org)
- In contrast, the role of BRCA2 in DNA repair may be more defined by its direct interaction with the RAD51 recombinase. (biomedcentral.com)
- We show here that PALB2 physically and functionally connects BRCA1 and BRCA2 into a DNA damage response network that also includes the RAD51 recombinase. (aacrjournals.org)
- Analysis of the assembly of foci in these cells by BRCA1, PALB2, BRCA2, and RAD51 suggests that BRCA1 recruits PALB2, which in turn organizes BRCA2 and RAD51. (aacrjournals.org)
- BRCA2, in turn, regulates the recruitment of RAD51 to DNA damage foci and its assembly into nucleoprotein filaments that initiate HR through strand invasion ( 15 - 17 ). (aacrjournals.org)
- Importantly, numerous BRCA2-dependent functions require the capacity of PALB2 to interact with both BRCA1 and BRCA2, including the assembly of BRCA2 foci, the assembly of RAD51 foci, HR, and resistance to MMC. (aacrjournals.org)
- These results show that BRCA1, PALB2, BRCA2, and RAD51 function in a DNA damage response pathway that culminates in HR. Together, our results suggest that PALB2 serves as a physical and functional linker between BRCA1 and BRCA2. (aacrjournals.org)
Increased if she i2
- A woman's lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2 ," says Scott Howell, D.O., MPH &TM, CPE, chief medical officer, RDx. (businesswire.com)
- A woman's risk of developing breast and/or ovarian cancer is greatly increased if she inherits a deleterious mutation in the BRCA1 gene or the BRCA2 gene. (medcraveonline.com)
Variants26
- Often described as "Variants of Uncertain Significance" (VUS), these mutations are not found in high enough frequency in healthy women or in women with breast or ovarian cancers to allow the specific BRCA1 or BRCA2 mutations to be reliably classified as high risk or low risk. (medindia.net)
- Mutations in BRCA2 are not all the same, and researchers have found over 800 variants of the mutation. (verywell.com)
- OZRETIĆ P, LEVAČIĆ CVOK M, MUSANI V, SABOL M, CAR D, LEVANAT S. In silico analysis of potential structural and functional significance of human breast cancer gene BRCA2 sequence variants found in 5' untranslated region. (srce.hr)
- The aim of this study is to investigate potential structural and functional significance of sequence variants found in 5' untranslated region (UTR) of BRCA2 gene. (srce.hr)
- We collected all found human BRCA2 5' UTR variants and explored their potentials effects by folding human BRCA2 5' UTR including one of each variant, using consensus structure as a constraint. (srce.hr)
- Accordingly, our study suggests this three BRCA2 5' UTR sequence variants as suitable candidates for further functional characterization and thus potentially clinically significant. (srce.hr)
- The following table summarises cancer risks in individuals identified with pathogenic variants in BRCA1 or BRCA2 . (esmo.org)
- The underlying pathogenic mechanism of a large fraction of DNA variants of disease-causing genes is the disruption of the splicing process. (biomedcentral.com)
- A (exon 20) and c.9026_9030del (exon 23), as well as 41 BRCA2 variants reported in the Breast Cancer Information Core (BIC) mutation database. (biomedcentral.com)
- We further evaluated the splicing outcomes of 41 variants of four BRCA2 exons by minigene analysis. (biomedcentral.com)
- Fourteen variants showed total splicing disruptions and were predicted to truncate or eliminate essential domains of BRCA2. (biomedcentral.com)
- A relevant proportion of BRCA2 variants are correlated with splicing disruptions, indicating that RNA analysis is a valuable tool to assess the pathogenicity of a particular DNA change. (biomedcentral.com)
- The minigene system is a straightforward and robust approach to detect variants with an impact on splicing and contributes to a better knowledge of this gene expression step. (biomedcentral.com)
- Nearly 3,500 different DNA variants of BRCA1 and BRCA2 have been reported at the Breast Cancer Information Core Database (BIC) [ 3 ]. (biomedcentral.com)
- Progress in implementing functional assays to assess missense variants of BRCA1 and BRCA2 is considered here, along with current limitations and the path to more impactful assay systems. (bmj.com)
- While functional assays have been developed to independently evaluate BRCA1 and BRCA2 VUS, high-throughput assays with sufficient sensitivity to characterise the large number of identified variants are lacking. (bmj.com)
- In the 1990s, pathogenic variants in BRCA1 and BRCA2 were found to be associated with hereditary breast and ovarian cancer (HBOC). (bmj.com)
- For many BRCA1 and BRCA2 variants (both intronic and exonic) an effect on mRNA splicing has been reported using either patient RNA or minigene analysis. (nature.com)
- Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants. (brca2.com)
- Deleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency (HRD) status are considered strong predictors of response to poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi). (frontiersin.org)
- The introduction of PARPi in clinical practice for the treatment of patients with advanced ovarian cancer imposed changes in the molecular diagnosis of BRCA1 / BRCA2 variants. (frontiersin.org)
- BRCA1 / BRCA2 tumor testing by next-generation sequencing (NGS) can detect simultaneously both somatic and germline variants, allowing the identification of more patients with higher likelihood of benefiting from PARPi. (frontiersin.org)
- Our main goal was to determine the frequency of somatic and germline BRCA1 / BRCA2 variants in a series of non-mucinous OC, and to define the best strategy to be implemented in a routine diagnostic setting for the screening of germline/somatic variants in these genes, including the BRCA2 c.156_157insAlu Portuguese founder variant. (frontiersin.org)
- Women unselected for family history present germline BRCA1 / BRCA2 variants in 14% of the cases when having any epithelial OC and in ~17% of the cases with a high-grade serous ovarian cancer (HGSOC) diagnosis ( 2 , 3 ). (frontiersin.org)
- Since the identification of BRCA1/2 as the principal genes responsible for inherited BC [ 5 , 20 ], over 3781 distinct DNA sequence variants have been added to the BIC database ( http://research.nhgri.nih.gov/bic/ ). (conicyt.cl)
- Several transcript variants encoding different isoforms have been described for this gene. (wikipedia.org)
Predispose4
- By now you are probably aware that some genes predispose people to cancer. (verywell.com)
- This specificity is illustrated by the distinct FA-associated BRCA2 mutations that appear to predispose to specific brain or haematological malignancies. (bmj.com)
- The mutations of BRCA2 gene predispose the cells towards neoplastic development. (biomedcentral.com)
- Also, I see the occasional study looking at other genes that may or may not predispose women to breast cancer, or that may point to their getting a more aggressive type. (webmd.com)
Germline mutation5
- Early targeted intervention would be optimally performed on persons with a very high risk of developing a specific cancer, as with those individuals who carry a germline mutation in a gene known to impose such a risk. (aacrjournals.org)
- Whether a person who has a germline mutation will develop cancer and where the cancer(s) will develop depends upon where (which cell type) the second mutation occurs. (novanthealth.org)
- In addition, the metastatic ovarian cancer in the proband's half-sister harboring the same BRCA2 germline mutation also responded well to platinum chemotherapy. (frontiersin.org)
- Women with a germline mutation in BRCA1 have a 39% to 54% cumulative lifetime risk of developing ovarian cancer, and those with BRCA2 have an 11% to 23% cumulative risk. (cancernetwork.com)
- Here we report on a case of a 57-year-old female patient with known BRCA2 germline mutation presenting with primary squamous cell carcinoma of the pancreas as the only malignancy. (hindawi.com)
13q12-133
- The breast cancer susceptibility gene BRCA2 on chromosome 13q12-13 has recently been identified. (nih.gov)
- Germ-line mutations of the BRCA2 gene (13q12-13) account for a large proportion of familial breast cancer cases in females and the majority of familial breast cancers in males. (aacrjournals.org)
- BRCA2 was identified ( 1 , 2 ) based on its initial mapping to chromosome 13q12-13 by linkage analysis of families with inherited breast cancer not attributed to mutations in BRCA1 ( 3 ). (pnas.org)
Genomic4
- Genomic DNA from one hundred and two Greek MBC patients, unselected for age and family history, was used to prepare libraries which capture the entire coding regions of 94 cancer genes. (springer.com)
- If not properly repaired, the breaks can promote genomic instability, leading to cancer and other diseases. (medindia.net)
- Those genes are considered tumour suppressor genes, since they are deputed to the maintenance of genomic stability and hence to the control of cell growth 1 . (esmo.org)
- At our Future of Genomic Medicine conference, you not only gave a talk about predisposition genes for cancer, but you also sang original music from your album that came out last year. (medscape.com)
Risk169
- In this study, we identified 54 that increase the risk of cancer. (news-medical.net)
- Similarly, 21 known neutral mutations that do not increase risk of cancer can now be expanded to 73. (news-medical.net)
- The researchers did a follow-up study in 1996 to estimate the cancer risk associated with this alteration as well as two other alterations subsequently reported to be present in the Ashkenazi Jewish population. (genome.gov)
- The primary purpose of the study was to estimate the risk of cancer associated with having three specific alterations in the breast cancer genes, BRCA1 and BRCA2. (genome.gov)
- Then, using the family cancer histories reported by the volunteers, the scientists estimated the cancer risk by comparing the histories of cancer in the relatives of the volunteers with the alteration to the histories of cancer in the relatives of the volunteers without the alteration. (genome.gov)
- This was the first study to test directly the DNA from volunteers who are outside cancer-prone families and estimate the cancer risk associated with each alteration. (genome.gov)
- Even though the frequencies they found were unexpectedly high (see references in question 4), it was impossible to estimate the cancer risk associated with the alterations because the cancer history of the blood donors was not known. (genome.gov)
- This study was designed both to test for the frequency of the alterations and to find out if volunteers from the general population with an alteration were at greater risk for cancer than those without an alteration. (genome.gov)
- Prior research in these high-risk families reported that women with BRCA2 alterations have a lower risk of developing both breast and ovarian cancer than women with BRCA1 alterations. (genome.gov)
- The most frequent contributors to hereditary cancer risk in human population so far are the inherited mutations in the BRCA1 or BRCA2 tumor suppressor genes, often causing breast or ovarian cancer in young women of child-bearing age. (medindia.net)
- How may a BRCA2 gene mutation raise your risk of lung cancer? (verywell.com)
- Depending on the specific gene mutation, your risk can vary considerably. (verywell.com)
- In the case of lung cancer, this could mean a combination of smoking, air pollution, radon exposure , or heredity increase your risk, while factors such as a healthy diet and exercise may reduce risk. (verywell.com)
- Everyone carries two of these genes, and a mutation in only one confers risk. (verywell.com)
- usually 13 to 15 percent of people who smoke are expected to develop lung cancer, but for smokers who are positive for the BRCA2 gene mutation, their lifetime risk is roughly 25 percent. (verywell.com)
- For never smokers , the risk of developing lung cancer for those who are positive for the specific BRCA2 gene mutation described in the study is slightly less than two percent. (verywell.com)
- Family history is the strongest risk factor for ovarian cancer. (aacrjournals.org)
- Using the cutoff point of 0.458 identified from the receiver operating characteristic (ROC) analysis, higher levels of AI were associated with a 4.22-fold increased risk of familial ovarian cancer (95% CI: 1.60-11.16). (aacrjournals.org)
- Compared with a 1.6% lifetime risk of developing ovarian cancer in the general population, women with 1 first-degree relative with ovarian cancer have a 5% risk and women with 2 first-degree relatives have a 7% risk. (aacrjournals.org)
- Women and men with a mutation in one of their chromosomes can have a higher risk of cancer. (canceractive.com)
- The estimated cumulative risk of breast cancer reached 28% (95% CI 9%-44%) by age 50 years and 84% (95% CI 43%-95%) by age 70 years. (nih.gov)
- Background and Purpose: BRCA1 and BRCA2 are major hereditary breast/ovarian cancer predisposing genes and their mutations increase the risk of developing cancer. (srce.hr)
- Natural News ) Aldehydes, a common class of everyday chemicals, have been found to increase cancer risk by interfering with the body's natural DNA repair mechanism, a new study reported . (naturalnews.com)
- Though it is not the first time aldehyde exposure has been linked to an increased risk of cancer, scientists now believe they have discovered why this class of chemicals may cause the disease. (naturalnews.com)
- To determine whether germline mutations in BRCA2 are associated with a similar variation in phenotypic risk, we have analysed the distribution of mutations in 25 families with multiple cases of breast and/or ovarian cancer ascertained in the United Kingdom and Eire. (nih.gov)
- Truncating mutations in families with the highest risk of ovarian cancer relative to breast cancer are clustered in a region of approximately 3.3 kb in exon 11 (P = 0.0004). (nih.gov)
- In the 1990s, scientists at The Institute of Cancer Research identified the breast cancer 2 gene, BRCA2, and mutations in it that greatly increase the carrier's risk of developing breast cancer and other cancers. (icr.ac.uk)
- No evidence was found in this study for an association between BRCA2 mutations and susceptibility to HPC in men selected from high-risk families. (aacrjournals.org)
- This guideline includes statements and recommendations based on available evidence about the management of early breast cancer in women with an identified BRCA1 or BRCA2 gene mutation or at high risk of such a gene mutation predisposing to breast cancer. (nbocc.org.au)
- these detectable effects of "one hit" represent early molecular changes in tumorigenesis that may serve as novel biomarkers of cancer risk and as targets for chemoprevention. (aacrjournals.org)
- Women with one or two close relatives affected with breast cancer have a lifetime risk of 17-30%, depending on the specific family history. (mariekeating.ie)
- Women who have a BRCA1 gene mutation have a 60-90% lifetime risk and women who have a BRCA2 gene mutation have a 45-85% lifetime risk. (mariekeating.ie)
- Women who carry the BRCA1 mutation have a greater risk of developing breast cancer before they reach 40 years of age when compared to women carrying the BRCA2 mutation. (mariekeating.ie)
- In women over the age of 55 years it is the women who carry the BRCA2 mutation who remain at higher risk of developing breast cancer whereas women carrying the BRCA1 mutation have a lesser risk. (mariekeating.ie)
- How can I manage my risk of developing breast cancer? (mariekeating.ie)
- The choices you make may increase or decrease your risk of breast cancer but will also impact on the options for risk reducing surgery and your ability to make a good recovery. (mariekeating.ie)
- Having your first child at a young age and breast feeding your babies reduces the risk of breast cancer. (mariekeating.ie)
- It is important to maintain a healthy weight and take regular exercise which will reduce the risk of cancer but also means that you will be more likely to recover well from surgery. (mariekeating.ie)
- Drinking excessive alcohol especially in your teens and twenties may also increase your risk of breast cancer. (mariekeating.ie)
- Smoking will not increase the risk of breast cancer but is a major risk factor for other forms of cancer. (mariekeating.ie)
- Oestrogen only HRT is suitable for women who have had a hysterectomy and is not associated with any increased risk of breast cancer. (mariekeating.ie)
- Combined HRT, which contains both oestrogen and progesterone, does increase the risk of breast cancer. (mariekeating.ie)
- The risk of breast cancer reduces once HRT is stopped. (mariekeating.ie)
- Taking HRT up until age 50 after the ovaries have been removed does not increase the risk of breast cancer. (mariekeating.ie)
- The cancer risk caused by BRCA1 and BRCA2 mutations are inherited in a dominant fashion even though usually only one mutated allele is directly inherited. (esmo.org)
- Estimates of penetrance range from 41% to 90% lifetime risk for breast cancer, with an increased risk for contralateral breast cancer, and of ovarian cancer between 8% and 62% depending on population studied 17 . (esmo.org)
- Mutations in the BRCA2 gene are associated with an increased risk of breast cancer in both men and women, as well as several other types of cancer. (medlineplus.gov)
- Many of the same BRCA2 gene mutations that increase the risk of breast cancer (described above) also increase the risk of ovarian cancer. (medlineplus.gov)
- They may also be at increased risk for other cancers. (medlineplus.gov)
- Family history and the risk of stomach and colorectal cancer. (semanticscholar.org)
- Some women with breast cancer in their families will have a moderate risk . (cdc.gov)
- If you are a woman with a parent, sibling, or child with breast cancer, you are at higher risk for breast cancer. (cdc.gov)
- If you are a woman with a strong risk family health history, you are more likely to have a mutation in BRCA1 or BRCA2 than women with average or moderate risk family health histories. (cdc.gov)
- To learn more about risk for breast or ovarian cancer based on family health history, see family health history risk categories . (cdc.gov)
- Thus, related assays may be particularly relevant to cancer risk. (bmj.com)
- Indeed, individuals who carry a pathogenic variant in BRCA1 and BRCA2 are recommended to consider prophylactic surgeries including bilateral risk-reducing mastectomy (RRM) and/or risk-reducing bilateral salpingo-oophorectomy (rrBSO). (bmj.com)
- The apparent lack of an increased cancer risk in Brca2 +/− mice (10) , a setting that would reflect the situation in humans, clearly testifies to this problem. (aacrjournals.org)
- Ms Livingstone has discovered she inherited the BRCA2 gene mutation which increased the risk of ovarian and breast cancers. (abc.net.au)
- But when these genes contain abnormalities or mutations that are passed from generation to generation, the genes don't function normally and breast, ovarian, and other cancer risk increases. (breastcancer.org)
- The average woman in the United States has about a 1 in 8, or about 12%, risk of developing breast cancer in her lifetime. (breastcancer.org)
- Women who have an abnormal BRCA1 or BRCA2 gene (or both) can have up to an 80% risk of being diagnosed with breast cancer during their lifetimes. (breastcancer.org)
- Men who have an abnormal BRCA2 gene have a higher risk of breast cancer than men who don't -- about 8% by the time they're 80 years old. (breastcancer.org)
- These abnormal genes are much less common and don't seem to increase risk as much as abnormal BRCA1 and BRCA2 genes, which are considered rare. (breastcancer.org)
- There are several specific genes that have been linked to an increased risk of developing breast cancer. (news-medical.net)
- However, if an individual has a mutation in one of these genes that interferes with its function, their risk of developing breast cancer significantly increases. (news-medical.net)
- In the United States, each woman has approximately 12% risk of developing breast cancer in her lifetime. (news-medical.net)
- However, this risk increases dramatically up to 80% for women who have a mutation in the BRCA1 or BRCA2 gene. (news-medical.net)
- This increased risk of breast cancer for individuals with the gene mutation holds true for males. (news-medical.net)
- Men with a mutation in the BRCA1 or BRCA2 gene have a risk of 8% of developing breast cancer by the age of 80, which is approximately 80 times higher than for males without the mutation. (news-medical.net)
- In addition to the BRCA1 and BRCA2 genes, there are several other genes that have been associated with an increased risk of developing breast cancer. (news-medical.net)
- There are several tests available to identify individuals who are at risk of developing breast cancer due to the presence of an abnormal gene linked to breast cancer. (news-medical.net)
- The BRCA1 and BRCA2 gene test is a blood test that can tell you if you have a higher risk of getting cancer. (medlineplus.gov)
- So people with BRCA1 and BRCA2 gene mutations are at a higher risk of getting cancer. (medlineplus.gov)
- Women with this mutation are at higher risk of getting breast cancer or ovarian cancer. (medlineplus.gov)
- This means you are at a higher risk of getting cancer. (medlineplus.gov)
- When you know you are at higher risk of developing cancer, you can decide if you will do anything differently. (medlineplus.gov)
- It may mean you have the same risk of getting cancer as people who do not have this mutation. (medlineplus.gov)
- Individuals heterozygous for BRCA2 mutations have an increased risk of inherited breast and ovarian cancer. (bmj.com)
- We examined the societal costs of providing this counseling and testing to women at risk of having a breast cancer susceptibility mutation. (aacrjournals.org)
- Women with a mutation may also opt to have a prophylactic mastectomy (13) and/or oophorectomy to decrease the risk of breast and ovarian cancer, respectively. (aacrjournals.org)
- Those testing positive may face insurance or employment discrimination (16) and may encounter potentially high medical bills for cancer prophylaxis or surveillance because of their elevated risk of developing cancer. (aacrjournals.org)
- The risk is highest for breast cancer in women . (macmillan.org.uk)
- They will explain if you are likely to have a higher risk because of the pattern of cancer in your family. (macmillan.org.uk)
- You may have a higher risk of some types of cancer. (macmillan.org.uk)
- You may still have a higher risk of cancer because of the pattern of cancer in your family. (macmillan.org.uk)
- You and your family may still be offered extra screening or treatment to reduce your risk of cancer. (macmillan.org.uk)
- We have more information about breast screening for women with a higher risk of breast cancer . (macmillan.org.uk)
- Our finding that colorectal cancer risk for millennials has escalated back to the level of those born in the late '80s, is very sobering. (cancer.org)
- Once age is taken into account, those born in 1990 have double the risk of colon cancer and quadruple the risk of rectal cancer compared to people born around 1950, when risk was lowest. (cancer.org)
- Risk factors such as menopause, oral contraceptive use, cigarette smoking, and family history of breast cancer have been shown to have different relations to breast cancer among blacks and whites [ 2 ]. (hindawi.com)
- Fejerman and colleagues reported that Greater European ancestry is associated with increased risk of breast cancer [ 3 ]. (hindawi.com)
- Men with these mutations also have an increased risk of breast cancer, and both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of additional types of cancer. (medcraveonline.com)
- Deleterious mutations in BRCA1 and BRCA2 increase the risk of several cancers in addition to breast and ovarian cancer. (medcraveonline.com)
- BRCA1 mutations may increase a woman's risk of developing fallopian tube cancer and peritoneal cancer. (medcraveonline.com)
- If you have concerns about your risk of breast cancer, talk to your health care provider. (komen.org)
- Men at higher risk for breast cancer should also be aware of the warning signs of breast cancer. (komen.org)
- Although some factors have been found to increase the risk of breast cancer in men, most men who are diagnosed have no known risk factors (except for older age). (komen.org)
- Getting older increases the risk of breast cancer. (komen.org)
- Older age is the most common risk factor for breast cancer in both men and women. (komen.org)
- Men with Klinefelter's syndrome have a 20 to 50 times greater risk of breast cancer compared to men without this condition. (komen.org)
- But for the first time, researchers from The Institute of Cancer Research in the UK have discovered a link between smokers with a BRCA2 gene mutation and increased risk of lung cancer . (immunotherapychina.com)
- It is common knowledge that smoking is the leading risk factor for lung cancer, causing at least 80% of deaths from the disease. (immunotherapychina.com)
- Smokers in general have around a 13-15% chance of lung cancer, so the study results show that a BRCA2 gene mutation can increase lung cancer risk even further. (immunotherapychina.com)
- Our study showed that mutations to two genes, BRCA2 and CHEK2, have a very large effect on lung cancer risk in the context of smoking. (immunotherapychina.com)
- Mutated BRCA2 in particular seems to increase risk by around 1.8 times. (immunotherapychina.com)
- Earlier this year, Medical News Today reported on a study that revealed even thirdhand smoke - exposure to the toxic compounds of tobacco smoke from dust or surfaces in a room where a person has smoked previously - may damage DNA and increase cancer risk. (immunotherapychina.com)
- Researchers are searching for other genes that may also increase a woman's cancer risk. (blogspot.com)
- How do alterations in BRCA1 and BRCA2 affect a person's risk of cancer? (blogspot.com)
- Women with an inherited alteration in one of these genes have an increased risk of developing these cancers at a young age (before menopause ), and often have multiple close family members with the disease. (blogspot.com)
- According to estimates of lifetime risk, about 13.2 percent (132 out of 1,000 individuals) of women in the general population will develop breast cancer, compared with estimates of 36 to 85 percent (360-850 out of 1,000) of women with an altered BRCA1 or BRCA2 gene. (blogspot.com)
- Lifetime risk estimates of ovarian cancer for women in the general population indicate that 1.7 percent (17 out of 1,000) will get ovarian cancer, compared with 16 to 60 percent (160-600 out of 1,000) of women with altered BRCA1 or BRCA2 genes. (blogspot.com)
- No data are available from long-term studies of the general population comparing the cancer risk in women who have a BRCA1 or BRCA2 alteration with women who do not have an alteration in these genes. (blogspot.com)
- Mutations in the BRCA1 and BRCA2 genes are well-known to be linked to an increased breast cancer risk. (nbcf.org.au)
- However, there may be other genes, or certain combinations of genes, which may increase breast cancer risk when mutated. (nbcf.org.au)
- Mutations in the BRCA1 and BRCA2 genes are associated with an increased risk of breast and ovarian cancer. (nbcf.org.au)
- To help all Australians to know and manage their personal breast cancer risk, NBCF has funded the innovative work of Professor Kelly-Anne Phillips. (nbcf.org.au)
- Her development of web-based tool, iPrevent , was designed help all Australian women to estimate their risk of developing breast cancer so they can take appropriate action. (nbcf.org.au)
- This tool will also help to determine the significance of your family history, amongst other risk factors, to your breast cancer risk. (nbcf.org.au)
- Mutations in BRCA1 and BRCA2 genes have been linked to an extremely high lifetime risk of developing breast and/or ovarian cancer. (columbiasurgery.org)
- However, when they carry specific mutations that prevent them from functioning properly, BRCA1 and BRCA2 genes have been associated with an increased risk of developing breast and ovarian cancers. (columbiasurgery.org)
- This is associated with a much higher risk of developing breast or ovarian cancer. (columbiasurgery.org)
- Once an individual tests positive for one of the "breast cancer" genes, called BRCA1 and BRCA2 , then screening - mammograms and MRI - and prevention - surgery and medicines - can be used to reduce risk of disease and improve outcomes. (theconversation.com)
- Parents, siblings and adult children all have a 50-50 risk for the carrying the same gene change and might benefit from knowing of the positive screening results. (theconversation.com)
- With BRCA1 and BRCA2 women have higher personal cancer risk, but all have increased cancer risks. (theconversation.com)
- This study highlights the fact that our current approaches to finding individuals with the cancer risk associated with BRCA1 and BRCA2 miss the majority of individuals who carry those genes, and further research into the use of DNA-based screening is needed if we are to address the missed opportunities to intervene. (theconversation.com)
- If family members have had breast or ovarian cancer, you can take steps to reduce your risk. (healthfinder.gov)
- It was the second gene discovered that is often mutated in people at extra risk for breast cancer, and depending on the mutation these people often have increased risk of ovarian cancer as well. (healthtap.com)
- Most breast cancer is NOT due to an inherited risk, but rather occurs by chance. (healthtap.com)
- Family history that suggests an inherited risk, such as changes in the BRCA1 gene or BRCA2 gene , include multiple relatives with cancer over more than one generation and younger ages of onset. (healthtap.com)
- Women with BRCA1 mutations who had two, three or four or more full-term pregnancies were at 21 percent, 30 percent, and 50 percent decrease risk of breast cancer compared to women with a single full-term pregnancy. (eurekalert.org)
- In contrast, women with BRCA2 mutations did not have a decrease in risk from multiple pregnancies except if they had four or more pregnancies. (eurekalert.org)
- Women with BRCA1 mutations who had only one full-term pregnancy were at an increased risk of breast cancer as were women with BRCA2 mutations who had fewer than four pregnancies. (eurekalert.org)
- Some mutations can be used in cancer risk assessment and informed treatment decisions. (frontiersin.org)
- Mutations in some of these genes have already been used for risk assessment and treatment decision-making ( 8 ). (frontiersin.org)
- like BRCA1, it carries a marked increase in the lifetime risk of breast and ovarian cancer. (thefreedictionary.com)
- With some cancers, we do know what the major risk contributors are. (webmd.com)
- They increase the risk of getting diagnosed with breast cancer only by a little bit. (webmd.com)
- It's clear that women who have a strong family history of breast or ovarian cancer have a greater risk of developing breast cancer themselves. (webmd.com)
- For example, actress Angelina Jolie opted to have a double mastectomy and removal of her ovaries and fallopian tubes after finding that a fault in her BRCA1 gene (another major gene involved in cancers) put her at a greater risk of breast and ovarian cancer. (localhealthguide.com)
- As only 10-15% of all breast cancers are caused by directly heritable mutations, cultivating the ability to identify those who may be at increased risk is an important skill for the primary care physician. (bmj.com)
- Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. (abnova.com)
- From basic information about cancer and its causes to in-depth information on specific cancer types - including risk factors, early detection, diagnosis, and treatment options - you'll find it here. (cancer.org)
- You can help reduce your risk of cancer by making healthy choices like eating right, staying active and not smoking. (cancer.org)
- A risk factor is anything that increases your chances of getting a disease, such as breast cancer. (cancer.org)
- Some risk factors for breast cancer are things you cannot change, such as getting older or inheriting certain gene changes. (cancer.org)
- These make your risk of breast cancer higher. (cancer.org)
- This is the main risk factor for breast cancer. (cancer.org)
- As you get older, your risk of breast cancer goes up. (cancer.org)
- If you have inherited a mutated copy of either gene from a parent, you have a higher risk of breast cancer. (cancer.org)
- This risk is also affected by how many other family members have had breast cancer. (cancer.org)
- Women with one of these gene changes also have a higher risk of developing ovarian cancer and some other cancers. (cancer.org)
- Men who inherit one of these gene changes also have a higher risk of breast cancer, as well as prostate and some other cancers. (cancer.org)
- Recognize your risk for male breast cancer. (wikihow.com)
- Doctors do not know what causes male breast cancer, but are aware that certain factors can increase your risk of developing the disease. (wikihow.com)
- Coughlin, SS , Khoury, MJ & Steinberg, KK 1999, ' BRCA1 and BRCA2 gene mutations and risk of breast cancer: Public health perspectives ', American Journal of Preventive Medicine , vol. 16, no. 2, pp. 91-98. (elsevier.com)
- Before the first operation, Rochelle's lifetime risk of developing breast cancer was around 85 per cent. (yorkshireeveningpost.co.uk)
- Rochelle, whose mother was a tireless fundraiser for Yorkshire Cancer Research, is now eager to spread the word about the risk of gene faults within the Jewish community in Leeds and estimates that there around 250 people in the city who might have the mutations. (yorkshireeveningpost.co.uk)
- A year later, the FDA gave 23andMe clearance to tell consumers about their risk of cancer - specifically about three BRCA1 and BRCA2 gene mutations that are associated with an increased risk in breast and ovarian cancer. (businessinsider.com)
- Although scientists' understanding about the early carcinogenic events of ovarian cancer is incomplete (see Chapter 2 ), researchers have identified several factors associated with either an increased or a decreased risk of developing ovarian cancer (see Table 3-1 ). (nap.edu)
- A critical drawback, however, is that nearly all of the identified risk factors are associated predominantly with the less common and less lethal ovarian cancer subtypes and not with the most common and lethal type-high-grade serous carcinoma (HGSC). (nap.edu)
- cancer risk factors can also vary by histologic subtype, and thus a given risk factor may increase risk for one subtype while decreasing risk for another. (nap.edu)
- A family history of ovarian cancer has a strong association with risk for ovarian cancer, and having a large number of first-degree biological relatives with an ovarian carcinoma increases a woman's risk (Jervis et al. (nap.edu)
- Germline mutations in BRCA1 and BRCA2 are responsible for about 25% of the risk for familial BC [ 6 - 8 ] and therefore 5-10% of all BC cases [ 9 ]. (conicyt.cl)
- Everyone has those genes but if they're mutated then your risk of developing cancer increases. (theguardian.com)
- That higher risk is particularly evident for women and for breast cancer specifically as this data from the US shows. (theguardian.com)
- In 2010, 397 men were diagnosed with breast cancer - like women, their risk increases considerably with age. (theguardian.com)
- According to studies published by Cancer Research UK, several of the factors that increase breast cancer risk - such as hormone replacement treatment, or late first pregnancy - are less common among women from more deprived households. (theguardian.com)
- The Lyda Hill Cancer Prevention Center provides cancer risk assessment, screening and diagnostic services. (mdanderson.org)
- BRCA2 and its cousin, BRCA1, are tumor-suppressing genes involved in DNA repair that, when mutated, raise a woman's risk for having breast or ovarian cancer. (mdanderson.org)
Familial breast cancer5
- There is some evidence that other, undiscovered genes may be important in explaining familial breast cancer. (nih.gov)
- Familial breast cancer is the term used to describe families with a cluster of breast cancer diagnoses. (nbcf.org.au)
- The BRCA2 gene was identified based on its involvement in familial breast cancer. (pnas.org)
- However, mutations in BRCA2 , like BRCA1 , are mainly found in familial breast cancer but seldom occur in sporadic cases ( 8 , 9 ). (pnas.org)
- The cohort known as IBCCS (International BRCA1/2 Carrier Cohort Study) includes data from 21 national or center-based prospective follow-up studies whose the national EMBRACE cohort from UK, the national GENEPSO cohort from FR and the national HEBON cohort from NL, the Kathleen Cuningham Foundation Constortium for Research into Familial Breast Cancer Followup Study, and the Breast Cancer Family Registry. (eurekalert.org)
Homologous4
- The new findings explain how the loss of BRCA1 or BRCA2 function impairs homologous recombination (HR), a normally accurate repair process used to fix DNA breaks, and actually stimulates faulty error-prone HR repair. (medindia.net)
- Some years ago, we and others suggested that BRCA1 and BRCA2 regulate homologous recombination at sites of stalled replication," explains Scully. (medindia.net)
- Loss of BRCA2 function has been shown to lead to centrosome amplification, chromosomal rearrangement, aneuploidy, and reduced efficiency of homologous recombination-mediated double-strand break repair. (biomedcentral.com)
- Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. (abnova.com)
Researchers12
- 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)
- For years, researchers have studied families with breast cancer throughout several generations to help identify the altered genes passed on from one generation to the next. (genome.gov)
- Because family history is the strongest single predictor of a woman's chance of developing breast cancer, researchers turned to cancer-prone families - those with a high incidence of cancer in several generations - to find specific inherited gene alterations that are passed on from one generation to the next. (genome.gov)
- In a study published in 2014, researchers looked at over 11,000 people with lung cancer and compared them to over 15,000 people without lung cancer. (verywell.com)
- A team of researchers at the ICR led by Professor Michael Stratton and including Dr Richard Wooster and Professor Alan Ashworth set out to identify BRCA2. (icr.ac.uk)
- American Cancer Society researchers are looking at data in new ways - leading them to discover urgent issues in colorectal cancer. (cancer.org)
- More than 35 researchers are working together as part of a Lung Cancer Dream Team to address difficult-to-treat lung cancers - those with a common gene mutation called KRAS, which occurs in 20-30% of lung cancers. (cancer.org)
- Discovered and developed by AbbVie researchers, veliparib is being developed to help prevent DNA repair in cancer cells and increase the effectiveness of common DNA-damaging therapies like chemotherapy or radiation. (drugs.com)
- But the researchers point out that as yet, it is unclear as to whether such drugs would work for lung cancer patients. (immunotherapychina.com)
- In both these families and groups, researchers also identified higher than normal levels of male breast cancer (yes, men can also get breast cancer), prostate, pancreatic and other cancers. (localhealthguide.com)
- In this retrospective study using data from the Surveillance, Epidemiology and End Results (SEER) program, researchers identified men 5,753 men with first primary breast cancers. (medicalnewstoday.com)
- As part of our mission to eliminate cancer, MD Anderson researchers conduct hundreds of clinical trials to test new treatments for both common and rare cancers. (mdanderson.org)
Associated with BRCA2 mutations2
- Several other cancers are associated with BRCA2 mutations. (verywell.com)
- What is BRCA2 and what cancers are associated with BRCA2 mutations? (brca2.com)
Incidence10
- There is a higher incidence on BRCA1 in women with Triple Negative Breast Cancer (TNBC). (canceractive.com)
- In Morocco and according to RCRC (Cancers Register of Grand Casablanca) [ 2 ] the incidence of breast cancer was continuously increasing in the last decade to reach 39.9 new cases per 100,000 women in 2007 ( Table 1 ). (omicsonline.org)
- Breast cancer incidence in Moroccan women (2005-2007), RCRC. (omicsonline.org)
- These areas are characterized by high poverty, which is associated with higher colorectal cancer incidence and death rates. (cancer.org)
- The incidence of breast cancer is lower among African women than their European counterparts. (hindawi.com)
- The incidence of ovarian cancer is different based on geographic region and ethnic group. (kowsarpub.com)
- Age, alcohol consumption, smoking, family history, early menarche (age of less than 13 years), late menopause (the age range between 20 and 50) and infertility increase the incidence of this cancer. (kowsarpub.com)
- In contrast, pregnancy, breastfeeding, use of oral contraceptives tubal ligation and hysterectomy reduce the incidence of this type of cancer ( 11 , 12 ). (kowsarpub.com)
- The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. (rcaap.pt)
- As noted in Chapter 1 , ovarian cancer incidence also increases with age, and the age-adjusted incidence rate for women ages 65 and older is more than five times the incidence rate for women younger than age 65 (Howlader et al. (nap.edu)
Pathogenic1
- 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)
Risks5
- Our results suggest that some familial risks for carcinoma will be evident only through a population-based application of gene screening techniques because a low disease penetrance of the germline mutations in some families often evades clinical suspicion. (aacrjournals.org)
- Only about 5-10 percent of breast cancer is considered to be genetically heritable, meaning 90-95 percent of women who develop breast cancer do not have an inherited mutation and may develop cancer for other reasons: environmental toxin exposure, lifestyle choices and other disease risks. (businesswire.com)
- The corresponding ovarian cancer risks were 0.4% (95% CI 0%-1%) by age 50 years and 27% (95% CI 0%-47%) by age 70 years. (nih.gov)
- The large tumor size and high histological grade in the Moroccan population was explained by a serious lack of early diagnosis and awareness about breast cancer risks [ 8 ]. (omicsonline.org)
- Other cancer risks, such as cancer of the skin or digestive tract, also may be slightly higher in men with abnormal BRCA1 or BRCA2 genes. (breastcancer.org)
BRCA1 or BRCA2 Mutations4
- This work also suggests that treatments that work for patients with BRCA1 or BRCA2 mutations might also be effective against EMSY-driven cancers because the disease mechanism is similar," says first study author Petar Jelinic, a research assistant professor at NYU Langone. (medindia.net)
- We have compared the transcriptomes of primary breast and ovarian epithelial cultures from patients predisposed to cancer, bearing monoallelic BRCA1 or BRCA2 mutations, with corresponding cultures from control individuals. (aacrjournals.org)
- Although breast cancer is much more common in women, men with BRCA1 or BRCA2 mutations are more likely to get breast cancer than other men. (cdc.gov)
- Women with BRCA1 or BRCA2 mutations are offered tests to look for early signs of breast cancer. (macmillan.org.uk)
Ovarian cancer patients3
- To test this hypothesis, we applied a quantitative, allelic-specific, real-time PCR method to survey the levels of AI in BRCA1/2 in lymphoblastoid cell lines (LCL) from 126 familial ovarian cancer patients who are noncarriers of any known BRCA1/2 and MLH/MSH mutations and 118 cancer-free relative controls. (aacrjournals.org)
- To test the hypothesis, we compared BRCA1/2 AI in a cohort of BRCA1/2 or MLH/MSH mutation-negative familial ovarian cancer patients and cancer-free relative controls. (aacrjournals.org)
- The results did not show a correlation between BRCA2 gene promoter methylation in ovarian cancer patients and healthy subjects. (kowsarpub.com)
Represented by germline mutations1
- The most common hereditary condition is represented by germline mutations in BRCA1 or BRCA2 genes that account for 20-25% of high grade serous ovarian cancer. (cdc.gov)
High-grade serous ovarian cancer2
- This data is the result of an observational genomics and clinical data analysis of 316 women with high-grade serous ovarian cancer published today in JAMA . (cancernetwork.com)
- TCGA published a study of 489 cases of high-grade serous ovarian cancer, the most common form of the disease, that combined an exhaustive analysis of each tumor's genome with comprehensive clinical data on each patient. (mdanderson.org)
Predisposition genes3
- Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%-28%), suggesting other predisposition genes. (nih.gov)
- She heads up the Institute for Cancer Research at the Royal Marsden Hospital and is a very unique individual, because she not only is a medical geneticist (focusing on cancer, biology, and predisposition genes), but she is also a singer and songwriter. (medscape.com)
- [ 1 ] I see you as the leading authority in predisposition genes to cancer-the germline of the cancer story. (medscape.com)
Abnormal12
- About 5% to 10% of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child. (breastcancer.org)
- Abnormal BRCA1 and BRCA2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases. (breastcancer.org)
- Having an abnormal BRCA1 or BRCA2 gene doesn't mean you will be diagnosed with breast cancer. (breastcancer.org)
- Women who are diagnosed with breast cancer and have an abnormal BRCA1 or BRCA2 gene often have a family history of breast cancer, ovarian cancer, and other cancers. (breastcancer.org)
- Breast cancers associated with an abnormal BRCA1 or BRCA2 gene tend to develop in younger women and occur more often in both breasts than cancers in women without these abnormal genes. (breastcancer.org)
- Inheriting two abnormal copies of this gene causes the disease ataxia-telangiectasia, a rare disease that affects brain development. (breastcancer.org)
- Testing for abnormal BRCA1 and BRCA2 genes is usually done on a blood sample taken in your doctor's office and sent to a commercial lab. (breastcancer.org)
- A group of Canadian scientists has developed a new way to test for abnormal BRCA1 and BRCA2 genes that seems to be more accurate and less expensive than the current testing methods. (breastcancer.org)
- The new test found all the abnormal areas of the genes that the current test did, as well as several SNPs linked to breast cancer that weren't identified by the current test. (breastcancer.org)
- Ovarian cancer is the accumulation of abnormal cells and an imbalance between proliferation and cell death that occurs in ovaries and is able to invade nearby tissues and distant areas ( 2 ). (kowsarpub.com)
- Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer. (cancer.org)
- The National Cancer Institute (NCI), in particular, defines biomarker as a: "A biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease. (wikipedia.org)
Mutations in genes1
- Breast and ovarian cancer can also be caused by inherited mutations in genes other than BRCA1 and BRCA2 . (cdc.gov)
Allele2
- Allelic imbalance (AI) of BRCA1/2 expression, a result of a significant decrease in the ratios between the expression from one allele of BRCA1/2 and the other allele, has been observed in breast cancer. (aacrjournals.org)
- In both cases, the wild-type allele was lost in the patient's prostate tumor at the BRCA2 locus. (eurekamag.com)
Women with ovarian cancer2
- Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. (semanticscholar.org)
- Brain metastasis happens to about 5 per cent of women with ovarian cancer, usually towards the end of their life. (abc.net.au)
Faulty BRCA2 gene1
- An estimated one in 100 people carries a faulty BRCA2 gene. (naturalnews.com)