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)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.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).Breast Neoplasms: Tumors or cancer of the human BREAST.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.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.Neoplasms, Cystic, Mucinous, and Serous: Neoplasms containing cyst-like formations or producing mucin or serum.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.Neoplasms, Multiple Primary: Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.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.Skin Neoplasms: Tumors or cancer of the SKIN.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.DNA, Neoplasm: DNA present in neoplastic tissue.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.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.Kidney Neoplasms: Tumors or cancers of the KIDNEY.Adenocarcinoma, Mucinous: An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed)Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Rad51 Recombinase: A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.Thyroid Neoplasms: Tumors or cancer of the THYROID GLAND.Myeloproliferative Disorders: Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.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.Lung Neoplasms: Tumors or cancer of the LUNG.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.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.Cystadenoma: A benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. In some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic. (Stedman, 25th ed)Parotid Neoplasms: Tumors or cancer of the PAROTID GLAND.Neoplasms, Connective and Soft Tissue: Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.Neoplasms, Plasma Cell: Neoplasms associated with a proliferation of a single clone of PLASMA CELLS and characterized by the secretion of PARAPROTEINS.Liver Neoplasms: Tumors or cancer of the LIVER.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.Appendiceal Neoplasms: Tumors or cancer of the APPENDIX.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.Cystadenoma, Mucinous: A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential.Carcinoma, Pancreatic Ductal: Carcinoma that arises from the PANCREATIC DUCTS. It accounts for the majority of cancers derived from the PANCREAS.Endocrine Gland Neoplasms: Tumors or cancer of the ENDOCRINE GLANDS.Neoplasms, Experimental: Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms.Gastrointestinal Neoplasms: Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL.Neoplasm Staging: Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.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.Neoplasms, Radiation-Induced: Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation.Neoplasms, Vascular Tissue: Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels.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.Eye Neoplasms: Tumors or cancer of the EYE.Carcinoma, Papillary: A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (Stedman, 25th ed)Nose Neoplasms: Tumors or cancer of the NOSE.Salivary Gland Neoplasms: Tumors or cancer of the SALIVARY GLANDS.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.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.Adenocarcinoma, Papillary: An adenocarcinoma containing finger-like processes of vascular connective tissue covered by neoplastic epithelium, projecting into cysts or the cavity of glands or follicles. It occurs most frequently in the ovary and thyroid gland. (Stedman, 25th ed)Testicular Neoplasms: Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.Neoplasms, Muscle Tissue: Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles.Neoplasm Invasiveness: Ability of neoplasms to infiltrate and actively destroy surrounding tissue.Cystadenocarcinoma, Mucinous: A malignant cystic or semisolid tumor most often occurring in the ovary. Rarely, one is solid. This tumor may develop from a mucinous cystadenoma, or it may be malignant at the onset. The cysts are lined with tall columnar epithelial cells; in others, the epithelium consists of many layers of cells that have lost normal structure entirely. In the more undifferentiated tumors, one may see sheets and nests of tumor cells that have very little resemblance to the parent structure. (Hughes, Obstetric-Gynecologic Terminology, 1972, p184)Uterine Neoplasms: Tumors or cancer of the UTERUS.Hematologic Neoplasms: Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES.Adenoma: A benign epithelial tumor with a glandular organization.Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue.Soft Tissue Neoplasms: Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.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.Intestinal Neoplasms: Tumors or cancer of the INTESTINES.Neoplasms, Adnexal and Skin Appendage: Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages.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)Bone Neoplasms: Tumors or cancer located in bone tissue or specific BONES.Vascular Neoplasms: Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA.Sweat Gland NeoplasmsPalatal Neoplasms: Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA.Splenic Neoplasms: Tumors or cancer of the SPLEEN.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.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.Neoplasms, Complex and Mixed: Neoplasms composed of more than one type of neoplastic tissue.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Thymus Neoplasms: Tumors or cancer of the THYMUS GLAND.Dog Diseases: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.Colonic Neoplasms: Tumors or cancer of the COLON.Cystadenoma, Serous: A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue, with a malignant potential several times greater than that of mucinous cystadenoma (CYSTADENOMA, MUCINOUS). It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. (Dorland, 27th ed; from Hughes, Obstetric-Gynecologic Terminology, 1972)Mandibular Neoplasms: Tumors or cancer of the MANDIBLE.Cystadenocarcinoma: A malignant neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. The neoplastic cells manifest varying degrees of anaplasia and invasiveness, and local extension and metastases occur. Cystadenocarcinomas develop frequently in the ovaries, where pseudomucinous and serous types are recognized. (Stedman, 25th ed)Bile Duct Neoplasms: Tumors or cancer of the BILE DUCTS.Salpingectomy: Excision of one or both of the FALLOPIAN TUBES.Heart Neoplasms: Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM.Maxillary Neoplasms: Cancer or tumors of the MAXILLA or upper jaw.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.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.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.Cell Line, Tumor: A cell line derived from cultured tumor cells.Anal Gland Neoplasms: Tumors or cancer of the anal gland.Neoplasms, Germ Cell and Embryonal: Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.Bone Marrow Neoplasms: Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic.Peritoneal Neoplasms: Tumors or cancer of the PERITONEUM.Carcinoma, Acinar Cell: A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)Neoplasms, Adipose Tissue: Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue.Meningeal Neoplasms: Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.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.Duodenal Neoplasms: Tumors or cancer of the DUODENUM.Homologous Recombination: An exchange of DNA between matching or similar sequences.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.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.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.Neoplasm Metastasis: The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.Adrenal Cortex Neoplasms: Tumors or cancers of the ADRENAL CORTEX.Mouth Neoplasms: Tumors or cancer of the MOUTH.Mediastinal Neoplasms: Tumors or cancer of the MEDIASTINUM.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.Tongue Neoplasms: Tumors or cancer of the TONGUE.Urinary Bladder Neoplasms: Tumors or cancer of the URINARY BLADDER.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.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.Ubiquitin-Protein Ligases: A diverse class of enzymes that interact with UBIQUITIN-CONJUGATING ENZYMES and ubiquitination-specific protein substrates. Each member of this enzyme group has its own distinct specificity for a substrate and ubiquitin-conjugating enzyme. Ubiquitin-protein ligases exist as both monomeric proteins multiprotein complexes.Ileal Neoplasms: Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL).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.Stomach Neoplasms: Tumors or cancer of the STOMACH.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.Pelvic Neoplasms: Tumors or cancer of the pelvic region.Fallopian Tube Neoplasms: Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk.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.Spinal Cord Neoplasms: Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.Vaginal Neoplasms: Tumors or cancer of the VAGINA.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.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.Adenoma, Oxyphilic: A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells.Nervous System Neoplasms: Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms.Heterozygote Detection: Identification of genetic carriers for a given trait.Cystadenocarcinoma, Serous: A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)Janus Kinase 2: A Janus kinase subtype that is involved in signaling from GROWTH HORMONE RECEPTORS; PROLACTIN RECEPTORS; and a variety of CYTOKINE RECEPTORS such as ERYTHROPOIETIN RECEPTORS and INTERLEUKIN RECEPTORS. Dysregulation of Janus kinase 2 due to GENETIC TRANSLOCATIONS have been associated with a variety of MYELOPROLIFERATIVE DISORDERS.Muscle Neoplasms: Tumors or cancer located in muscle tissue or specific muscles. They are differentiated from NEOPLASMS, MUSCLE TISSUE which are neoplasms composed of skeletal, cardiac, or smooth muscle tissue, such as MYOSARCOMA or LEIOMYOMA.Liver Neoplasms, Experimental: Experimentally induced tumors of the LIVER.Hemangiosarcoma: A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed)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.Myelodysplastic-Myeloproliferative Diseases: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.Pancreatectomy: Surgical removal of the pancreas. (Dorland, 28th ed)Peripheral Nervous System Neoplasms: Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)RNA, Neoplasm: RNA present in neoplastic tissue.Cerebral Ventricle Neoplasms: Neoplasms located in the brain ventricles, including the two lateral, the third, and the fourth ventricle. Ventricular tumors may be primary (e.g., CHOROID PLEXUS NEOPLASMS and GLIOMA, SUBEPENDYMAL), metastasize from distant organs, or occur as extensions of locally invasive tumors from adjacent brain structures.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Paranasal Sinus Neoplasms: Tumors or cancer of the PARANASAL SINUSES.Pleural Neoplasms: Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Prostatic Neoplasms: Tumors or cancer of the PROSTATE.PhthalazinesTomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Common Bile Duct Neoplasms: Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI.Orbital Neoplasms: Neoplasms of the bony orbit and contents except the eyeball.Abdominal NeoplasmsCerebellar Neoplasms: Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)Neoplasm Transplantation: Experimental transplantation of neoplasms in laboratory animals for research purposes.Lipoma: A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.Facial NeoplasmsMammary Neoplasms, Experimental: Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
The BRCA1 gene is another tumor suppressor gene in human which encodes the BRCA1 protein that is involved in response to DNA ... "DNA copy number losses in human neoplasms". The American Journal of Pathology. 155 (3): 683-94. doi:10.1016/S0002-9440(10)65166 ... Kim H, Chen J, Yu X (May 2007). "Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response". Science. 316 ( ... Hofmann K (April 2009). "Ubiquitin-binding domains and their role in the DNA damage response". DNA Repair. 8 (4): 544-56. doi: ...
The BRCA1 protein plays a key role in a type of DNA repair termed homologous recombinational repair that is the only known ... Ovarian neoplasms Germ cell tumor Seen most often in young women or adolescent girls. Other germ cell tumors are: Endodermal ... Women with an inherited mutation in the DNA repair gene BRCA1 undergo menopause prematurely, suggesting that naturally ... "Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans". Sci Transl Med. 5 (172 ...
... a DNA repair gene; APC, a cell cycle regulator; MLH1, a DNA-repair gene; and BRCA1, another DNA-repair gene. Indeed, cancer ... Such mutations and epigenetic alterations can give rise to cancer (see malignant neoplasms). Germ line mutations in DNA repair ... If DNA repair is deficient, DNA damage tends to accumulate. Such excess DNA damage can increase mutational errors during DNA ... Baldassarre et al., showed that HMGA1 protein binds to the promoter region of DNA repair gene BRCA1 and inhibits BRCA1 promoter ...
... s involved in base excision repair (BER) may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers ... MBD4 expression is reduced in almost all colorectal neoplasms due to methylation of the promoter region of MBD4. Also MBD4 is ... Uracil-DNA glycosylases are DNA repair enzymes that excise uracil residues from DNA by cleaving the N-glycosydic bond, ... Lindahl, T. (1986). "DNA Glycosylases in DNA Repair". Mechanisms of DNA Damage and Repair: 335-340. doi:10.1007/978-1-4615-9462 ...
... red wording indicates the central role of DNA damage and defects in DNA repair in progression to cancer.) When DNA repair is ... They form a subset of neoplasms. A neoplasm or tumor is a group of cells that have undergone unregulated growth and will often ... BRCA1, BRCA2 Breast, ovarian, pancreatic HNPCC, MLH1, MSH2, MSH6, PMS1, PMS2 Colon, uterine, small bowel, stomach, urinary ... "DNA Damage, DNA Repair and Cancer". In Chen C. New Research Directions in DNA Repair. InTech. doi:10.5772/53919. ISBN 978-953- ...
The PAX genes give instructions for making proteins that attach themselves to certain areas of DNA. This nuclear protein is ... Some whole-genome sequencing studies have shown that PAX8 also targets BRCA1 (carcinogenesis), MAPK pathways (thyroid ... aka Hurthle-Cell Neoplasms). Tumors expressing the PAX8/PPARy are usually present in at a young age, small in size, present in ... PAX8 and other transcription factors play a role in binding to DNA and regulating the genes that drive thyroid hormone ...
In further examples, epigenetic defects were found at frequencies of between 13%-100% for the DNA repair genes BRCA1, WRN, ... ICD-10 classifies neoplasms into four main groups: benign neoplasms, in situ neoplasms, malignant neoplasms, and neoplasms of ... The protein-coding DNA within the nucleus is about 1.5% of the total genomic DNA. Within this protein-coding DNA (called the ... Deficiencies in DNA repair cause increased mutation rates. A deficiency in DNA repair, itself, can allow DNA damages to ...
DNA binding. • sequence-specific DNA binding. • transcription factor activity, sequence-specific DNA binding. • transcriptional ... Some whole-genome sequencing studies have shown that PAX8 also targets BRCA1 (carcinogenesis), MAPK pathways (thyroid ... aka Hurthle-Cell Neoplasms). Tumors expressing the PAX8/PPARy are usually present in at a young age, small in size, present ... transcription regulatory region DNA binding. • RNA polymerase II core promoter sequence-specific DNA binding. • RNA polymerase ...
A 2003 study showed that HMGA1 protein binds to the promoter region of DNA repair gene BRCA1 and inhibits BRCA1 promoter ... Such mutations and epigenetic alterations can give rise to cancer (see malignant neoplasms). Germ line mutations in DNA repair ... HMGA1 and HMGA2 target (reduce expression of) BRCA1 and ERCC1 DNA repair genes. Thus DNA repair can be reduced, likely ... Encoded by eukaryotic nuclear DNA in plants and animals and by viral DNA in certain viruses whose genome is based on DNA, ...
List of MeSH codes (G14)
... dna sequence, unstable MeSH G14.340.024.189.220 --- dna repeat expansion MeSH G14.340.024.189.220.865 --- trinucleotide repeat ... brca1 MeSH G14.340.024.340.383.249.105 --- genes, brca2 MeSH G14.340.024.340.383.249.200 --- genes, dcc MeSH G14.340.024.340. ... neoplasm MeSH G14.340.024.340.383.249 --- genes, tumor suppressor MeSH G14.340.024.340.383.249.050 --- genes, apc MeSH G14.340. ... dna repeat expansion MeSH G14.340.024.850.150 --- dna, satellite MeSH G14.340.024.850.500 --- microsatellite repeats MeSH ...
DNA damage appears to be the primary underlying cause of cancer. If accurate DNA repair is deficient, DNA damages tend to ... Such mutations and epigenetic alterations can give rise to cancer (see malignant neoplasms). Thus, CpG island hyper/hypo- ... BRCA1, SHFM1, GEN1, FANCE, FAAP20, SPRTN, SETMAR, HUS1, and PER1. About seventeen types of cancer are frequently deficient in ... Such excess DNA damage can increase mutational errors during DNA replication due to error-prone translesion synthesis. Excess ...
Non-small-cell lung carcinoma
DNA repair deficiency in NSCLC. Deficiencies in DNA repair underlie many forms of cancer. If DNA repair is deficient ... Large cell lung carcinoma (LCLC) is a heterogeneous group of undifferentiated malignant neoplasms originating from transformed ... "Epigenetic inactivation of the chromosomal stability control genes BRCA1, BRCA2, and XRCC5 in non-small cell lung cancer". Clin ... Epigenetic promoter methylation in DNA repair genes in NSCLC Gene Frequency of hyper- (or hypo-) methylation DNA repair pathway ...
Regulation of transcription in cancer
DNA damage appears to be the primary underlying cause of cancer. If accurate DNA repair is deficient, DNA damages tend to ... Such mutations and epigenetic alterations can give rise to cancer (see malignant neoplasms). Thus, CpG island hyper/hypo- ... BRCA1, SHFM1, GEN1, FANCE, FAAP20, SPRTN, SETMAR, HUS1, and PER1. About seventeen types of cancer are frequently deficient in ... a large proportion of carcinogenic gene silencing is a result of altered DNA methylation (see DNA methylation in cancer). DNA ...
Somatic evolution in cancer
Epigeneticically deficient DNA repair proteins include BRCA1, WRN, MGMT, MLH1, MSH2, ERCC1, PMS2, XPF, P53, PCNA and OGG1, and ... which may be benign neoplasms) or else a malignant neoplasm (cancer). These neoplasms are also indicated, in the diagram below ... Bernstein C, Prasad AR, Nfonsam V, Bernstein H. (2013). DNA Damage, DNA Repair and Cancer, New Research Directions in DNA ... www.intechopen.com/books/new-research-directions-in-dna-repair/dna-damage-dna-repair-and-cancer Goel A, Boland CR (December ...
... a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 ... "Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome". ... Among the 27 DNA repair genes evaluated, 13 DNA repair genes, MLH1, MLH3, MGMT, NTHL1, OGG1, SMUG1, ERCC1, ERCC2, ERCC3, ERCC4 ... Only a minority of sporadic cancers with a DNA repair deficiency have a mutation in a DNA repair gene. However, a majority of ...
... see malignant neoplasms). Thus, CpG island hyper/hypo-methylation in the promoters of DNA repair genes are likely central to ... BRCA1, SHFM1, GEN1, FANCE, FAAP20, SPRTN, SETMAR, HUS1, and PER1. About seventeen types of cancer are frequently deficient ... DNA damage appears to be the primary underlying cause of cancer. If accurate DNA repair is deficient, DNA damages tend ... DNA repair genes with hyper/hypo-methylated promoters in cancers. DNA repair genes are frequently repressed in cancers ...
Some of these cases may be caused by mutations in a region of DNA that regulates the activity of the PTEN gene. Others may have ... The syndrome is also known as Multiple hamartoma syndrome.) List of cutaneous neoplasms associated with systemic syndromes ... "Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility". J Med Genet. 39 (4): 225-42. doi:10.1136/jmg.39.4. ...
Index of genetics articles
DNA gyrase DNA hybridization DNA ligase DNA marker DNA polymerase DNA probe DNA repair genes DNA replication DNA sequence DNA ... Myotonic dystrophy N segment N-end rule Narrow heritability Natural selection Negative control Neo-darwinism Neomorph Neoplasm ... Blastopore Blastula Blending inheritance Blunt-end ligation Bookmarking Bottleneck Brachydactyly Branch migration BRCA1 BRCA2 ... Disease Disruptive selection Distribution DMD DNA DNA amplification DNA bank DNA clone DNA cloning DNA fingerprint DNA ...
Mouse models of breast cancer metastasis
It also confirms the genetic heterogeneity between the primary neoplasm of breast cancer patients and their respective ... It harbors a regulatory DNA sequence called the long terminal repeat (LTR), which promotes steroid-hormone-inducible ... "Evolutionary pathways in BRCA1-associated breast tumors". Cancer Discovery. 2 (6): 503-11. doi:10.1158/2159-8290.CD-11-0325. ... Sauer, B; Henderson, N (1989). "Cre-stimulated recombination at loxP-containing DNA sequences placed into the mammalian genome ...
... red wording indicates the central role of DNA damage and defects in DNA repair in progression to cancer.) When DNA repair is ... They form a subset of neoplasms. A neoplasm or tumor is a group of cells that have undergone unregulated growth and will often ... "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... Reduced expression of DNA repair genes disrupts DNA repair. This is shown in the figure at the 4th level from the top. (In the ...
Index of biochemistry articles
DNA - DNA fragmentation - DNA replication - DNA sequence - DNA topology - DNA transposable element - DNA virus - DNA-binding ... neoplasm protein - Nernst equation - nerve - nerve growth factor - nerve growth factor receptor - nerve tissue protein - nerve ... BRCA1 - buffer solution - C-terminus - C4 photosynthesis - cadherin - calbindin -calcitonin - calcitonin gene-related peptide ... RNA-directed DNA polymerase - rod outer segment - rough ER - sarcoplasmic reticulum - satellite DNA - scientific notation - SDS ...
As summarized in the articles Carcinogenesis and Neoplasm, for sporadic cancers in general, a deficiency in DNA repair is ... "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... Bernstein, C; Prasad, AR; Nfonsam, V; Bernstein, H. (2013). "DNA Damage, DNA Repair and Cancer". In Chen, Clark. New Research ... These include miR-124a, miR-34b/c and miR-342 which are silenced by CpG island methylation of their encoding DNA sequences in ...
In further examples, epigenetic defects were found at frequencies of between 13%-100% for the DNA repair genes BRCA1, WRN, ... ICD-10 classifies neoplasms into four main groups: benign neoplasms, in situ neoplasms, malignant neoplasms, and neoplasms of ... Malignant neoplasms. DNA damage. The central role of DNA damage and epigenetic defects in DNA repair genes in ... Deficiencies in DNA repair cause increased mutation rates. A deficiency in DNA repair, itself, can allow DNA ...
Thymidine kinase in clinical chemistry
The triphosphate is included in a DNA molecule, a reaction catalyzed by a DNA polymerase and a complementary DNA molecule (or ... Lipkin M, Deschner E, Troncale F (1970). "Cell differentiation and the development of colonic neoplasms". CA: A Cancer Journal ... "Increased proliferative background in healthy women with BRCA1/2 haploinsufficiency is associated with high risk for breast ... "Molecular forms in human serum of enzymes synthesizing DNA precursors and DNA". Mol. Cell. Biochem. 92 (1): 23-35. doi:10.1007/ ...
DNA binding. • protein dimerization activity. • transcription factor activity, sequence-specific DNA binding. • protein complex ... Li H, Lee TH, Avraham H (June 2002). "A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase ... Neoplasm: Tumor suppressor genes/proteins and Oncogenes/Proto-oncogenes. Ligand. Growth factors. ... Through its bHLH DNA-binding motif, Myc interacts with DNA, while the leucine zipper TF-binding motif allows the dimerization ...
Index of oncology articles
BRCA1 - BRCA2 - breakthrough pain - breast cancer in situ - breast density - breast duct endoscopy - Breast Imaging Reporting ... DNA - docetaxel - dock - dolasetron - dolastatin 10 - donepezil - dose - dose-dense chemotherapy - dose-dependent - dose- ... neoplasm - nephrotomogram - nephrotoxic - nephroureterectomy - nerve block - nerve grafting - nerve-sparing radical ... Hürthle cell neoplasm - hydrazine sulfate - hydromorphone - hydronephrosis - hydroureter - hydroxychloroquine - hydroxyurea - ...
Platelet-derived growth factor
... and plays a regulatory role in S phase DNA replication and DNA damage repair. Specifically, p21 has a high affinity ... Neoplasm: Tumor suppressor genes/proteins and Oncogenes/Proto-oncogenes. Ligand. Growth factors. ... not exposed to DNA damaging agents, have shown that DNA damage occurring in mother cell S-phase can induce p21 accumulation ... p21 acts as an effective inhibitor of DNA S-phase DNA synthesis though permits NER, leading to the proposal that p21 acts to ...
RET is an abbreviation for "rearranged during transfection", as the DNA sequence of this gene was originally found to be ... Neoplasm: Tumor suppressor genes/proteins and Oncogenes/Proto-oncogenes. Ligand. Growth factors. ... Takahashi M, Ritz J, Cooper GM (1985). "Activation of a novel human transforming gene, ret, by DNA rearrangement". Cell. 42 (2 ... positive regulation of transcription, DNA-templated. • regulation of axonogenesis. • protein phosphorylation. • enteric nervous ...
Bernstein C, Prasad AR, Nfonsam V, Bernstein H. (2013). DNA Damage, DNA Repair and Cancer, New Research Directions in DNA ... "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... Thus, a clone with a mutation in a tumor suppressor gene or oncogene will expand only in a neoplasm if that mutation gives the ... DNA damage is considered to be the primary cause of cancer. More than 60,000 new naturally occurring DNA damages arise, ...
negative regulation of DNA damage response, signal transduction by p53 class mediator. • response to ether. • blood vessel ... Neoplasm: Tumor suppressor genes/proteins and Oncogenes/Proto-oncogenes. Ligand. Growth factors. ... DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest. • positive regulation of gene ... This loop can be interfered with by kinases and genes like p14arf when p53 activation signals, including DNA damage, are high. ...
Rak żołądka człowieka, wolna encyklopedia
Benefits of endoscopic submucosal dissection according to size and location of gastric neoplasm, compared with conventional ... Połączenie nasilonej proliferacji i zwiększonego narażenia na mutacje DNA powoduje zwiększenie prawdopodobieństwa wystąpienia ... mutacje BRCA1 i BRCA2). ... kilkoma różnymi mutacjami genów odpowiedzialnych za naprawę DNA ...
... red wording indicates the central role of DNA damage and defects in DNA repair in progression to cancer.) When DNA repair is ... They form a subset of neoplasms. A neoplasm or tumor is a group of cells that have undergone unregulated growth and will often ... BRCA1, BRCA2 Breast, ovarian, pancreatic HNPCC, MLH1, MSH2, MSH6, PMS1, PMS2 Colon, uterine, small bowel, stomach, urinary ... Reduced expression of DNA repair genes disrupts DNA repair. This is shown in the figure at the 4th level from the top. (In the ...
BRCA1 and BRCA2 are essential for homologous recombination DNA repair, and germline mutations in these genes are found in about ... They can develop further into a variety of other neoplasms, including choriocarcinoma, yolk sac tumor, and teratoma. They occur ... The major genetic risk factor for ovarian cancer is a mutation in BRCA1 or BRCA2 DNA mismatch repair genes, which is present in ... About 10% of cases are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% ...
Association and prognostic significance of BRCA1/2-mutation status with neoantigen load, number of tumor-infiltrating...
Keywords: BRCA1 and BRCA2 mutations; PD-1 and PD-L1; high grade serous ovarian cancer; homologous recombination DNA repair; ... Ovarian Neoplasms / genetics * Ovarian Neoplasms / immunology* * Ovarian Neoplasms / metabolism * Ovarian Neoplasms / pathology ... These findings support a link between BRCA1/2-mutation status, immunogenicity and survival, and suggesting that BRCA1/2-mutated ... Given that BRCA1/2-mutated high grade serous ovarian cancers (HGSOCs) exhibit a higher mutational load and a unique mutational ...
BRCA1-associated DNA Repair Dysfunction in Patients With Early Triple Negative Breast Cancer Treated With Neoadjuvant Platinum...
Breast Neoplasms. Triple Negative Breast Neoplasms. Neoplasms by Site. Neoplasms. Breast Diseases. Skin Diseases. Paclitaxel. ... BRCA1-associated DNA Repair Dysfunction in Patients With Early Triple Negative Breast Cancer Treated With Neoadjuvant Platinum- ... Identification of BRCA1-associated DNA Repair Dysfunction in Patients With Early Triple Negative Breast Cancer Treated With ... There is increasing evidence that the BRCA1-related DNA-repair defects, especially defective homologous recombination, ...
Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer
To investigate LOH of BRCA1 (17q21) and BRCA2 (13-q12-13) in sporadic breast cancer, polymerase chain react … ... Fluorescent-labelled PCR products were analysed in an automated DNA sequencer (ALFTM Pharmacia). Losses at both loci were ... Breast Neoplasms / genetics* * Carcinoma, Ductal, Breast / genetics* * Carcinoma, Lobular / genetics* * Chromosomes, Human, ... Clinical impact of detection of loss of heterozygosity of BRCA1 and BRCA2 markers in sporadic breast cancer Br J Cancer. 1996 ...
Week 7 - Cormier & Nelson Flashcards by Jesse Cobell | Brainscape
DNA microarrays - determine source/type when unknown origin. Prognosis of malignant neoplasms:. • Specific chromosomal ... Diagnosis of a hereditary predisposition to cancer (e.g. BRCA1 or BRCA2 in breast cancer). ... o Introduce DNA into host genome!!. • Makes DNA change permanent. o Can accommodate large transgenes - helpful in therapy. o ... Neoplasia means "new growth" = Neoplasm = Tumor. "A neoplasm is an abnormal mass of tissue, the growth of which exceeds and is ...
DNA, Neoplasm | Harvard Catalyst Profiles | Harvard Catalyst
USP1 Is Required for Replication Fork Protection in BRCA1-Deficient Tumors. Mol Cell. 2018 12 20; 72(6):925-941.e4. ... Neoplasm" by people in Harvard Catalyst Profiles by year, and whether "DNA, Neoplasm" was a major or minor topic of these ... "DNA, Neoplasm" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... Below are the most recent publications written about "DNA, Neoplasm" by people in Profiles. ...
British Journal of Cancer
Zebisch A[au] - PubMed - NCBI
Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid ... Therapy-related myeloid neoplasms: pathobiology and clinical characteristics.. Sill H, Olipitz W, Zebisch A, Schulz E, Wölfler ... Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection. ... Are mouthwashes a reliable source of constitutional DNA in patients with leukemia? ...
Phospho BRCA1 (S1423) antibody (ab194753) | Abcam
Rabbit polyclonal BRCA1 (phospho S1423) antibody. Validated in WB, IHC and tested in Human. Immunogen corresponding to ... Cells lacking BRCA1 show defects in DNA repair by homologous recombination.. Defects in BRCA1 are a cause of susceptibility to ... Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. ... Localizes at sites of DNA damage at double-strand breaks (DSBs) and recruitment to DNA damage sites is mediated by the BRCA1-A ...
Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian...
The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is ... of the DNA sequences in the neoplasm. Presumably, in these cases, the germline mutation was the driver and the somatic mutation ... Inherited mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of familial ovarian carcinoma (1). BRCA1/2, along ... Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res 2008;68:2581-6. ...
Browsing by Subject "Breast Neoplasms"
A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via ... In this two-stage case-control study with 1,764 non-BRCA1/2 breast cancer patients and 1,623 cancer-free controls, we ... ... Polymorphisms in genes involved in folate metabolism may influence DNA methylation, nucleotide synthesis, ... ...
Methylation signature of lymph node metastases in breast cancer patients
3). The relation of DNA methylation for BRCA1 and P16 with tumor recurrence has been reported with a high value in breast ... The pathway analysis revealed that BMP6BRCA1 and P16 have a role in prevention of neoplasm metastasis (Figure. ... BRCA1, CST6, ESR-b, P16, PTEN and TIMP3 promoter regions (P,0.05). Among those candidate methylated genes, APC, BMP6, BRCA1 and ... BRCA1 and P16 have a role in prevention of neoplasm metastasis. ... 0.05). The promoter region of BIN1, BMP6, BRCA1, GSTP1, P14 and ...
Wei Zheng's Research on Breast Neoplasms (Breast Cancer) | CureHunter
Breast cancer - SNPedia
... everyone has two copies of the BRCA1 gene. Along the length of each gene, the DNA base at most positions is the same for ... Redirected from Breast Neoplasms). Jump to:navigation, search. Wikipedia provides a good introduction to breast cancer ... BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PMS2, PTEN, RAD50, RAD51C, STK11 ... are linked to BRCA1. Together, these genes are thought to account for around two per cent of all breast cancer cases.  ...
Multiplex Degenerate Primer Design for Targeted Whole Genome Amplification of Many Viral Genomes
E. Schulz, A. Valentin, P. Ulz et al., "Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in ... patients with therapy related myeloid neoplasms," Journal of Medical Genetics, vol. 49, no. 7, pp. 422-428, 2012. View at: ... To ensure that the PCR product was generated from the multiplex product template rather than genomic DNA carried over from the ... Targeted enrichment should preferentially amplify the target virus over host or environmental DNA/RNA, in contrast to random ...
Multiplex Degenerate Primer Design for Targeted Whole Genome Amplification of Many Viral Genomes
MeSH:Breast Neoplasms HPO:Breast carcinoma Neoplasm of the breast Previously collected DNA samples are analyzed for genetic ... APC BRCA2 PPM1D AKT1 PALB2 IDH2 BRCA1 SLC22A18 BRCA1 SDHB XRCC3 STK11 PIK3CA PIK3CA TP53 STK11 RAD51D SDHD RNF43 AKT1 ATM ESR1 ... NCT00897455 brca1 Mutation Carrier brca2 Mutation Carrier Breast Cancer Genetic: DNA analysis Genetic: mutation analysis ... RATIONALE: Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors learn ...
Pathobiologic characteristics of hereditary breast cancer. - PubMed - NCBI
BRCA1 Protein/analysis. *BRCA1 Protein/genetics. *BRCA2 Protein. *Biomarkers, Tumor. *Breast Neoplasms/genetics ... showed increased expression of DNA topoisomerase II-alpha (topo II-alpha), lacked hormone receptors, and were more likely to ... we studied several molecular parameters in a group of 34 breast cancer patients with mutations in either the BRCA1 or BRCA2 ... whether there are any molecular markers that might help explain this paradox between pathologically aggressive neoplasms in ...
Investigating young women's motivations to engage in early mammography screening in Switzerland: results of a cross-sectional...
A type I combi-targeting approach for the design of molecules with enhanced potency against BRCA1/2 mutant- and O6- ... Early evaluation of sunitinib for the treatment of advanced gastroenteropancreatic neuroendocrine neoplasms via CT imaging: ... methylguanine-DNA methyltransferase (mgmt)- expressing tumour cells. Research article. Inhibition of the IGF signaling pathway ...
ERCC1/BRCA1 expression and gene polymorphisms as prognostic and predictive factors in advanced NSCLC treated with or without...
Among DNA repair gene polymorphisms, only XRCC1 Gln/Gln genotype evidenced a potential prognostic role (P=0.036).Conclusion: ... ERCC1/BRCA1 expression and gene polymorphisms as prognostic and predictive factors in advanced NSCLC treated with or without ... ERCC1/BRCA1 expression and gene polymorphisms as prognostic and predictive factors in advanced NSCLC treated with or without ... ERCC1/BRCA1 expression and gene polymorphisms as prognostic and predictive factors in advanced NSCLC treated with or without ...
Methylation signature of lymph node metastases in breast cancer patients
BRCA1 and P16 have a role in prevention of neoplasm metastasis. Conclusions: The results of the present study showed ... The quantitative DNA methylation analysis of the candidate genes showed higher methylation proportion in the primary tumor ... The contribution of aberrant methylation alterations of BMP6, BRCA1 and P16 genes in lymph node metastasis might provide a ... BRCA1, CST6, ESR-b, GSTP1, P14 (ARF), P16 (CDKN2A), P21 (CDKN1A), PTEN, and TIMP3, in the matched axillary lymph node ...
Regulation of SirT1 by Deleted in Breast Cancer 1 (DBC1) - Mayo Clinic
Downregulation of DBC1 potentiates SirT1-dependent inhibition of apoptosis in response to DNA damage. In addition, loss of DBC1 ... 2. Investigate the regulation of SirT1-DBC1 interaction following DNA damage. 3. Use DBC1 knockout mice to explore the ... Based on these observations, we hypothesize that DBC1 negatively regulates SirT1, thereby affecting DNA damage response, aging ...
The GO term "DNA repair" contains cancer predisposition genes ATM and TP53. TP53 is a tumor-suppressor gene, mutations of which ... Mutations in PTEN can result in hereditary predispositions to hamartoma (a focal malformation resembling a neoplasm, composed ... and mutations in BRCA1 to breast and ovarian cancers. Mutations in tumor-suppressor genes EXT1 and EXT2 and stability genes ... DNA repair is found by our analysis to be specifically cohesive in the central nervous system (glioblastoma) tumor tissue ( ...
Methylation pattern and mutational status of BRCA1 in canine mammary tumors in a Brazilian population | SpringerLink
Qiu H, Lin D (2016) Roles of DNA mutation in the coding region and DNA methylation in the 5′ flanking region of BRCA1 in canine ... Brodey RS, Goldschmidt MH, Roszel JR (1983) Canine mammary gland neoplasms. J Am Anim Hosp Assoc 19:61-89Google Scholar ... Wang J, Lu C, Min D (2007) Mutation in the 5´UTR of BRCA1 in Chinese breast cancer patients. J Int Med Res 35:564-573CrossRef ... Signori E, Bagni C, Papa S, Primerano B, Rinaldi M, Amaldi F, Fazio VM (2001) A somatic mutation in the 5UTR of BRCA1 gene in ...
Methylation signature of lymph node metastases in breast cancer patients
BRCA1 and P16 have a role in prevention of neoplasm metastasis. ... The quantitative DNA methylation analysis of the candidate ... BRCA1, CST6, ESR-b, P16, PTEN and TIMP3 promoter regions (P,0.05). Among those candidate methylated genes, APC, BMP6, BRCA1 and ... The contribution of aberrant methylation alterations of BMP6, BRCA1 and P16 genes in lymph node metastasis might provide a ... BRCA1, CST6, ESR-b, GSTP1, P14 (ARF), P16 (CDKN2A), P21 (CDKN1A), PTEN, and TIMP3, in the matched axillary lymph node ...
Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens...
... and correctly diagnosed more than two-thirds of pathogenic germline BRCA1/2 mutations. However, it is not reliable to diagnose ... Tumor testing for BRCA1/2 germline mutations using an NGS platform is fairly reliable with no false positive findings, ... DNA, Neoplasm / genetics Actions. * Search in PubMed * Search in MeSH * Add to Search ... Genomic DNA was extracted and sequenced for BRCA1/2 using a NGS platform. 41/60 specimens were sequenced for 5 other genes (APC ...
Absence of germline BRCA1 mutations in familial pancreatic cancer patients. - PubMed - NCBI
DNA, Neoplasm. Grant support. *R03 CA123474/CA/NCI NIH HHS/United States ... To determine if BRCA1 mutations explain a significant proportion of familial pancreatic cancer, we sequenced the BRCA1 gene in ... Absence of germline BRCA1 mutations in familial pancreatic cancer patients.. Axilbund JE1, Argani P, Kamiyama M, Palmisano E, ... The BRCA1 gene was fully sequenced in 66 pancreatic cancer patients enrolled in the National Familial Pancreas Tumor Registry ...
"BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathwa" by Junjie Chen, Daniel P. Silver et al.
The BRCA1/BRCA2 complex may function in postreplicational repair processes activated during the DNA synthesis stage of the cell ... Thus, BRCA1 and BRCA2 participate in a common DNA damage response pathway associated with the activation of homologous ... We have recently found that BRCA1 and BRCA2 coexist in a common biochemical complex. The two proteins also colocalize in ... BRCA1 and BRCA2, are associated with early-onset breast and/or ovarian cancer and encode products that each interact with the ...
"Stable interaction between the products of the BRCA1 and BRCA2 tumor s" by Junjie Chen, Daniel P. Silver et al.
Like BRCA1 and RAD51, BRCA2 relocates to PCNA+ replication sites following exposure of S phase cells to hydroxyurea or UV ... Thus, BRCA1 and BRCA2 participate, together, in a pathway(s) associated with the activation of double-strand break repair and/ ... Results presented here show that BRCA1 and BRCA2 coexist in a biochemical complex and colocalize in subnuclear foci in somatic ... BRCA1 and BRCA2 account for most cases of familial, early onset breast and/or ovarian cancer and encode products that each ...
OPUS Würzburg | Search
This epimutation was associated with reduced basal protein levels and a higher induction of BRCA1 after DNA damage. In addition ... Exposure of normal somatic cells to radiation and/or chemotherapy can damage DNA and if not all DNA lesions are properly fixed ... Exposure of normal somatic cells to radiation and/or chemotherapy can damage DNA and if not all DNA lesions are properly fixed ... The BRCA1 epimutation may have originated by an early somatic event in the affected twin: approximately 25% of her body cells ...
RINGs of good and evil: RING finger ubiquitin ligases at the crossroads of tumour suppression and oncogenesis | Nature Reviews...
BRCA1, Fanconi anaemia proteins, CBL proteins, von Hippel-Lindau tumour suppressor (VHL) and SIAH proteins. As a result, many ... Cell Biol. 11, 138-148 (2010). This review summarizes the role of BRCA1 in DNA repair. ... Kales, S. C., Ryan, P. E., Nau, M. M. & Lipkowitz, S. Cbl and human myeloid neoplasms: the Cbl oncogene comes of age. Cancer ... The BRCA1 and the Fanconi anaemia (FANC) E3s have essential roles in the repair of DNA damage; both E3s function as tumour ...
GenesProteinsTumorsHumansHomologous RecombinationDamageDouble-Stranded DNA BreaksGeneticsGermline mutationsMyeloid neoplasmsPancreatic NeoplasmsAlterationsDeleteriousMeSHMetastasisBiomarkersClinicalPathwayRepairMutation carriersCarcinomaPARPCDH1Rad51InhibitorsTumourHereditaryMRNA expressionGenomePathogenicBreaks
- Here, we report significantly higher predicted neoantigens in BRCA1/2-mutated tumors compared to tumors without alterations in homologous recombination (HR) genes (HR-proficient tumors). (nih.gov)
- The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is uncertain. (aacrjournals.org)
- Using targeted capture and massively parallel genomic sequencing, we assessed 390 ovarian carcinomas for germline and somatic loss-of-function mutations in 30 genes, including BRCA1 , BRCA2 , and 11 other genes in the homologous recombination pathway. (aacrjournals.org)
- The contribution of aberrant methylation alterations of BMP6, BRCA1 and P16 genes in lymph node metastasis might provide a further clue to establish useful biomarkers for screening metastasis. (pubmedcentralcanada.ca)
- The contribution of aberrant DNA hypermethylation of cancer related genes to the transcriptional silencing and carcinogenesis has been demonstrated in different diseases including different cancer types [ 7 , 8 ]. (pubmedcentralcanada.ca)
- Germline mutations in the DNA damage response genes BRCA1 , BRCA2 , BARD1 and TP53 in patients with therapy related myeloid neoplasms," Journal of Medical Genetics , vol. 49, no. 7, pp. 422-428, 2012. (hindawi.com)
- Previously collected DNA samples are analyzed for genetic variants in selected candidate genes ( rs16942 in BRCA1, rs2237060 in RAD50, "SNP3", and rs2241193 in IGFBP5). (amazonaws.com)
- To determine whether there are any molecular markers that might help explain this paradox between pathologically aggressive neoplasms in patients with HBC and the lack of extreme clinically aggressive disease, we studied several molecular parameters in a group of 34 breast cancer patients with mutations in either the BRCA1 or BRCA2 tumor suppressor genes and compared them with a group of 20 breast cancer patients with non-HBC. (nih.gov)
- We used bisulfite pyrosequencing to compare the constitutive promoter methylation of BRCA1 and several other tumor suppressor genes in primary fibroblasts. (uni-wuerzburg.de)
- RING finger E3s are validated oncogenes (such as MDM2 ) or tumour suppressor genes (such as BRCA1 and von Hippel-Lindau tumour suppressor ( VHL )) because of their role in regulating crucial cell functions. (nature.com)
- Enginler SO, Akiş I, Toydemir TSF, Oztabak K, Haktanir D, Gündüz MC et al (2014) Genetic variations of BRCA1 and BRCA2 genes in dogs with mammary tumours. (springer.com)
- The two major hereditary breast cancer susceptibility genes, BRCA1 and BRCA2, are associated with early-onset breast and/or ovarian cancer and encode products that each interact with the product of the eukaryotic RecA homologue, hRad51. (umassmed.edu)
- When patients were categorised into groups based on mRNA expression levels of each biomarker (i.e., negative, positive), three genes were found to be significantly associated with OS in univariate analyses (Table 6): BRCA1 (HR = 1.64, 95% CI = 1.12-2.39), TS (HR = 1.78, 95% CI = 1.24-2.56), and RRM2 (HR = 1.69, 95% CI = 1.17-2.44). (nih.gov)
- Most of these genes mapped in pathways deregulated in cancer, such as cell cycle progression and DNA damage response and repair. (beds.ac.uk)
- BACKGROUND: Germline mutations within DNA-repair genes are implicated in susceptibility to multiple forms of cancer. (ox.ac.uk)
- We subsequently performed single variant, gene and pathway-level analyses using 81 303 SNPs within 20 Kb of a panel of 179 DNA-repair genes. (ox.ac.uk)
- Multiplex ligation-dependent probe amplification (MLPA) was used to examine BRCA1 rearrangements in 172 unrelated patients with hereditary breast and/or ovarian cancer syndrome without finding deleterious mutation after complete screening of whole coding regions of BRCA1/2 genes. (nih.gov)
- In this regard, we developed a Nextera design to study 11 complete genes involved in DNA damage repair. (jove.com)
- This syndrome accounts for up to 85% of all hereditary ovarian cancer cases and is most frequently associated with mutations in the BRCA1 or BRCA2 genes. (neurologyadvisor.com)
- Although the precise function of the BRCA genes is unknown, they are tumor suppressor genes and they appear to be involved in the recognition and repair of DNA damage. (neurologyadvisor.com)
- This device is a next generation sequencing based in vitro diagnostic device for detection of substitutions, insertion and deletion alterations (indels), and copy number alterations (CNAs) in 324 genes and select gene rearrangements, as well as genomic signatures including microsatellite instability (MSI) and tumor mutational burden (TMB) using DNA isolated from formalin-fixed paraffin embedded (FFPE) tumor tissue specimens. (fda.gov)
- In different types of cancer, a variety of epigenetic mechanisms can be perturbed, such as silencing of tumor suppressor genes and activation of oncogenes by altered CpG island methylation patterns, histone modifications, and dysregulation of DNA binding proteins. (wikipedia.org)
- Certain histone modifying enzymes can add or remove functional groups to the histones, and these modifications influence the level of transcription of the genes wrapped around those histones and the level of DNA replication. (wikipedia.org)
- We, therefore, examined expression levels of genes pertaining to DNA DSB repair in patients with endometriosis to assess the potential effects on ovarian reserves. (frontiersin.org)
- The genes play known important roles in processes encompassing tumor suppression, cell cycle regulation, apoptosis, DNA repair, and metastastic potential. (aacrjournals.org)
- Along with other genes and active substances, this gene forms a complex that regulates stability of DNA, which is especially important for the development of malignant neoplasm. (dna-28.com)
- Approximately 20% of ovarian cancers are familial, and although most of these are linked to mutations in either the BRCA1 or BRCA2 gene, several other genes have been implicated. (cigna.com)
- The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. (cdc.gov)
- However, 15% of ovarian cancers carry mutations of the BRCA1 and BRCA2 genes. (mja.com.au)
- By antibody microarrays, we screened primary fibroblasts of matched patients for differences in the amount of representative DNA repair-associated proteins. (uni-wuerzburg.de)
- We found constitutively decreased levels of RAD9A and several other DNA repair proteins in two-cancer patients, compared to one-cancer patients. (uni-wuerzburg.de)
- Conclusions/Significance: Collectively, our results support the idea that modulation of RAD9A and other cell cycle arrest and DNA repair proteins contribute to the risk of developing a second malignancy in childhood cancer patients. (uni-wuerzburg.de)
- We found constitutively decreased levels of RAD9A and several other DNA repair proteins in two-cancer patients, compared to onecancer patients. (uni-wuerzburg.de)
- Germ-line mutations in the tumour suppressor proteins BRCA1 and BRCA2 predispose to breast and ovarian cancer. (forskningsdatabasen.dk)
- PARP inhibitors sensitize ovarian cancer cells with either wild type or mutant BRCA1/BRCA2 proteins to the topoisomerase I poison topotecan and the ATR kinase inhibitor VE-821. (mayo.edu)
- 1 ] In addition, histologically similar cancers diagnosed as primary peritoneal carcinomas share molecular findings, such as loss or inactivation of the tumor-suppressor p53 and BRCA1 or BRCA2 proteins. (cigna.com)
- Furthermore, immunohistochemistry studies demonstrated that BRCA1/2-mutated tumors exhibited significantly increased CD3+ and CD8+ TILs, as well as elevated expression of PD-1 and PD-L1 in tumor-associated immune cells compared to HR-proficient tumors. (nih.gov)
- Of note, two distinct groups of HGSOCs, one with very poor prognosis (HR proficient with low number of TILs) and one with very good prognosis (BRCA1/2-mutated tumors with high number of TILs) were defined. (nih.gov)
- Many clinical characteristics and molecular features are shared by basal-like breast cancers and tumors that arise in carriers of BRCA1 germline mutations. (clinicaltrials.gov)
- The profound similarities between hereditary BRCA1-related breast tumors and basal-like tumors strongly implicate a fundamental defect in the BRCA1 or associated DNA-repair pathways (p53, PTEN) in sporadic basal-like tumors. (clinicaltrials.gov)
- USP1 Is Required for Replication Fork Protection in BRCA1-Deficient Tumors. (harvard.edu)
- In women, the importance of mutations in BRCA1 and mammary tumors development is well established. (springer.com)
- These observations have led to a phase I/II clinical trial of the topotecan-veliparib combination in relapsed ovarian cancer and efforts to test the hypothesis that the most sensitive tumors will, in addition to BRCA1 or BRCA2 mutations, have high levels of the enzymes topoisomerase I and PARP1. (mayo.edu)
- Here, we describe the preparation of barcoded and multiplexed DNA libraries followed by hybridization-based capture of targeted exons for the detection of cancer-associated mutations in fresh frozen and FFPE tumors by massively parallel sequencing. (jove.com)
- Patients with BRCA1/BRCA2 mutations will be compared to BRCA1/BRCA2 negative pancreatic cancer control patients to determine clinical and pathological features specific to BRCA1/BRCA2 positive tumors. (columbiasurgery.org)
- We collaborated with 10 laboratories testing BRCA1/2 in tumors to compare different approaches to identify clinically important variants within FFPE tumor DNA samples. (icr.ac.uk)
- Dr. Xing's clinical and translational research centers on novel diagnostic and prognostic markers of gynecologic neoplasms and molecular alterations of these tumors. (jhu.edu)
- There is increasing evidence that the BRCA1-related DNA-repair defects, especially defective homologous recombination, determines sensitivity to certain agents, such as platinum salts-based chemotherapy. (clinicaltrials.gov)
- Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. (abcam.com)
- Thus, BRCA1 and BRCA2 participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. (umassmed.edu)
- Previous work from other laboratories showed that PARP inhibitors are particularly toxic to cells with defects in the homologous recombination (HR) repair pathway, including breast and ovarian cancer cells with deleterious BRCA1 or BRCA2 mutations. (mayo.edu)
- Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. (abcam.com)
- Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. (abcam.com)
- Error-free repair of DNA double-strand breaks (DSBs) is achieved by homologous recombination (HR), and BRCA1 is an important factor for this repair pathway. (ox.ac.uk)
- The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. (abcam.com)
- Involved in transcriptional regulation of P21 in response to DNA damage. (abcam.com)
- Required for FANCD2 targeting to sites of DNA damage. (abcam.com)
- A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via dysregulated nuclear localization. (duke.edu)
- Downregulation of DBC1 potentiates SirT1-dependent inhibition of apoptosis in response to DNA damage. (elsevier.com)
- Based on these observations, we hypothesize that DBC1 negatively regulates SirT1, thereby affecting DNA damage response, aging and tumorigenesis. (elsevier.com)
- 2. Investigate the regulation of SirT1-DBC1 interaction following DNA damage. (elsevier.com)
- Exposure of normal somatic cells to radiation and/or chemotherapy can damage DNA and if not all DNA lesions are properly fixed, the mis-repair may lead to pathological consequences. (uni-wuerzburg.de)
- RING finger E3s have central roles in DNA damage responses and DNA repair. (nature.com)
- BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathwa" by Junjie Chen, Daniel P. Silver et al. (umassmed.edu)
- It is involved in DNA damage response signaling network, participating in G1/S, S and G2/M checkpoints. (beds.ac.uk)
- In contrast, an acquired somatic mutation that occurs in cells as a result of DNA damage during life's various exposures cannot be passed along to offspring. (neurologyadvisor.com)
- Repair of DNA double strand break (DSB) is an important mechanism for maintaining genetic stability during a DNA damage event. (frontiersin.org)
- The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. (ox.ac.uk)
- Antiproliferative activity, DNA damage, cell cycle perturbations and poly(ADP-ribosyl)ation were assessed by MTT assay, comet assay, flow cytometry and western blot, respectively. (bvsalud.org)
- Thus far, mtDNA is has been shown to be more sensitive to oxidative damage than nuclear DNA [ 10 ]. (mdpi.com)
- REV7 is recruited to DSBs in a manner dependent on the H2AX-MDC1-RNF8-RNF168-53BP1 chromatin pathway, and seems to block HR and promote end joining in addition to its regulatory role in DNA damage tolerance. (ox.ac.uk)
- Poly(ADP-ribose) polymerase inhibitors block the repair of DNA after damage from chemotherapy. (mja.com.au)
- The observation that particular regions of the PML and RARA loci are susceptible to topoII-mediated DNA damage induced by epirubicin and mitoxantrone may underlie the propensity of these agents to cause APL. (mjhid.org)
- Epipodophyllotoxins (e.g. etoposide), anthracyclines (e.g. epirubicin) and anthracenediones (e.g. mitoxantrone) act as topoII poisons, inducing DNA damage by disrupting the cleavage-religation equilibrium and increasing the concentration of DNA topoII covalent complexes, which leads to apoptosis of the tumor cells. (mjhid.org)
Double-Stranded DNA Breaks1
- To determine whether certain variant forms of the wild-type BRCA1 allele are implicated in variation of the BRCA1-related cancer risk, their effect was studied in a panel of 591 women with BRCA1 germline mutations. (elsevier.com)
- Neither SMC nor NICE restrict BRCA1/2 alterations to germline mutations. (mycancergenome.org)
- Up to 17% of all breast cancers are triple-negative, 1 and patients with this type of disease have a high frequency of BRCA1 and BRCA2 germline mutations. (jhoponline.com)
- All DNA samples were screened for pathogenic BRCA1 and BRCA2 germline mutations. (jhoponline.com)
- The lifetime risk for developing ovarian cancer in patients harboring germline mutations in BRCA1 is substantially increased over that of the general population. (cigna.com)
- 13 , 14 ] Two retrospective studies of patients with germline mutations in BRCA1 suggest that the women in these studies have improved survival compared with BRCA1 mutation-negative women. (cigna.com)
- Mutations that inactivate CBL E3 function have been described in myeloid neoplasms and result in the hyperactivation of RTKs and intracellular signalling pathways. (nature.com)
- In collaboration with the laboratory of Keith Pratz at Johns Hopkins University School of Medicine, Dr. Kaufmann's laboratory has demonstrated that certain chronic myeloid neoplasms, particularly chronic myelomonocytic leukemia, have defects in the HR pathway that render them particularly sensitive to PARP inhibitors. (mayo.edu)
- Therapy related myeloid neoplasms (t-MN) occur due to direct mutational events of chemotherapeutic agents and radiotherapy. (mjhid.org)
- Therapy-related myeloid neoplasms are recognized as a separate entity in the World Health Organization (WHO) classification of haematological diseases. (mjhid.org)
- 1 ] The incidence of therapy-related myeloid neoplasms (t-MN) continue to rise due to the relative prolongation of survival and cure related to chemo- and radio-therapy for primary malignancies, mostly breast cancer and lymphoproliferative diseases. (mjhid.org)
- Between 2010 and 2020, J. Samra wrote the following 58 articles about Pancreatic Neoplasms . (expertscape.com)
- Our pancreatic cancer research group at Johns Hopkins and others have shown that screening with EUS and/or abdominal imaging tests such as CT/MRI can detect a relatively high number of significant pancreatic neoplasms (7-18%) in asymptomatic high risk individuals with an inherited predisposition for pancreatic ductal adenocarcinoma This is a clinical, early detection translational study that will directly influence patient care. (clinicaltrials.gov)
- In total, 17.2% of the patients with TNBC carried germline BRCA1 and BRCA2 alterations. (jhoponline.com)
- patients with TNBC without pathogenic BRCA1 and BRCA2 alterations showed a 36.4% response rate, which increased to 55% when carboplatin was added to the regimen. (jhoponline.com)
- Among patients with TNBC without pathogenic BRCA1 and BRCA2 alterations, treatment with carboplatin increased DFS rates to 85.3% versus 73.5% without carboplatin (P = .04). (jhoponline.com)
- Biomarker: BRCA1/2 alterations. (fda.gov)
- Genomic alterations in plasma DNA from patients with metastasized prostate cancer receiving abiraterone or enzalutamide. (meduni-graz.at)
- We are in an era where the potential exists for deriving comprehensive profiles of DNA alterations characterizing each form of human cancer. (aacrjournals.org)
- Our results provide an unusual view of the pervasiveness of DNA alterations, in this case an epigenetic change, in human cancer and a powerful set of markers to outline the disruption of critical pathways in tumorigenesis and for derivation of sensitive molecular detection strategies for virtually every human tumor type. (aacrjournals.org)
- In addition, use of DNA assays for clinical medicine can be significantly sensitive and specific if cancer-specific DNA alterations are tested instead of elevation of circulating DNA concentration [ 1 - 8 ]. (mdpi.com)
- BRCA1 Mutation serves as an inclusion eligibility criterion in 86 clinical trials, of which 81 are open and 5 are closed. (mycancergenome.org)
- BRCA1 Mutation is an inclusion criterion in 13 clinical trials for fallopian tube carcinoma, of which 12 are open and 1 is closed. (mycancergenome.org)
- To enhance the clinical and translational utility of this technology, platforms must be high-throughput, cost-effective, and compatible with formalin-fixed paraffin embedded (FFPE) tissue samples that may yield small amounts of degraded or damaged DNA. (jove.com)
- Tudini E, Moghadasi S, Parsons MT, van der Kolk L, van den Ouweland AMW, Niederacher D, Feliubadaló L, Wappenschmidt B, Spurdle AB, Lazaro C. Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p. (harvard.edu)
- Clinical Trials Targeted at BRCA1 or BRCA2 Positive Individuals. (dailystrength.org)
- An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. (icr.ac.uk)
- The use of DNA as a biomarker in clinical medicine for early diagnosis, prognosis and monitoring of therapy has been a significant advancement in the field. (mdpi.com)
- Additional cell free DNA species, such as cell-free mitochondrial DNA (mtDNA) are also under evaluation for clinical relevance [ 5 ]. (mdpi.com)
- We found that among the pathogenic mutations in BRCA1, all were defective for DNA repair by either pathway. (elsevier.com)
- In women who are BRCA1 or BRCA2 mutation positive, the HR pathway does not work. (dailystrength.org)
- Our results reveal an unexpected crucial function of REV7 downstream of 53BP1 in coordinating pathological DSB repair pathway choices in BRCA1-deficient cells. (ox.ac.uk)
- Pathologic treatment response will be assessed in correlation with BRCA1-associated DNA repair dysfunction signature. (clinicaltrials.gov)
- They regulate crucial cellular functions, such as the cell cycle, DNA repair, cell signalling and responses to hypoxia. (nature.com)
- The BRCA1/BRCA2 complex may function in postreplicational repair processes activated during the DNA synthesis stage of the cell cycle. (umassmed.edu)
- Importantly, this sensitization reflects trapping of PARP1 on damaged DNA, preventing proper repair after topoisomerase I-mediated events. (mayo.edu)
- This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. (cancerindex.org)
- Only poly-ubiquitination on defined lysines, mostly on K48 and K29, is related to degradation by the proteasome (referred to as the "molecular kiss of death"), while other polyubiquitinations (e.g. on K63, K11, K6 and M1) and monoubiquitinations may regulate processes such as endocytic trafficking, inflammation, translation and DNA repair. (wikipedia.org)
- Repair of double-strand breaks by homology-directed recombination (HDR) had been previously analyzed for 16 of these BRCA1 variants, and 13 more variants were analyzed in this study. (elsevier.com)
- In this study, we evaluated whether functional assays for DNA repair can augment the genetic information. (elsevier.com)
- Trabectedin induces synthetic lethality in tumor cells carrying defects in homologous recombinant DNA repair. (bvsalud.org)
- Among BRCA1 and BRCA2 mutation carriers, DFS rates were not significantly different based on treatment (82.5% without carboplatin vs 86.3% with carboplatin). (jhoponline.com)
- The investigators concluded that a less-intense treatment regimen might be considered for BRCA1 and BRCA2 mutation carriers, but further prospective studies are needed to identify the optimal regimen. (jhoponline.com)
- BRCA1 Mutation is present in 2.78% of AACR GENIE cases, with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, ovarian neoplasm, and melanoma having the greatest prevalence [ 4 ]. (mycancergenome.org)
- Trials with BRCA1 Mutation in the inclusion eligibility criteria most commonly target malignant solid tumor, breast carcinoma, ovarian carcinoma, prostate adenocarcinoma, and fallopian tube carcinoma [ 5 ]. (mycancergenome.org)
- Of the trials that contain BRCA1 Mutation and fallopian tube carcinoma as inclusion criteria, 1 is phase 1 (1 open), 1 is phase 1/phase 2 (1 open), 6 are phase 2 (6 open), 4 are phase 3 (3 open), and 1 is phase 4 (1 open) [ 5 ]. (mycancergenome.org)
- Olaparib is currently approved for use in patients with BRCA1 Mutation in fallopian tube carcinoma [ 5 ]. (mycancergenome.org)
- Olaparib, placebo, and paclitaxel are the most frequent therapies in trials for fallopian tube carcinoma that contain BRCA1 Mutation [ 5 ]. (mycancergenome.org)
- Of the trial that contains BRCA1 Mutation and peritoneal carcinoma as inclusion criteria, 1 is phase 1 (1 open) [ 5 ]. (mycancergenome.org)
- Parp inhibitor bgb-290 and tislelizumab are the most frequent therapies in trials for peritoneal carcinoma that contain BRCA1 Mutation [ 5 ]. (mycancergenome.org)
- Targeting the loss of activity of RING finger E3s that are tumour suppressors will require novel approaches such as the synthetic lethality that is induced by poly(ADP-ribose) polymerase (PARP) inhibition in cells that are deficient in BRCA1 or BRCA2. (nature.com)
- While more experiments are underway to better understand the biochemical mechanism of this unique vulnerability, PARP inhibitors are being tested in chronic myelomonocytic leukemia and related disorders alone and in combination with DNA-damaging chemotherapy. (mayo.edu)
- REV7 counteracts DNA double-strand break resection and affects PARP inhibition. (ox.ac.uk)
- In particular, little is known about BRCA1-independent restoration of HR. Here we show that loss of REV7 (also known as MAD2L2) in mouse and human cell lines re-establishes CTIP-dependent end resection of DSBs in BRCA1-deficient cells, leading to HR restoration and PARP inhibitor resistance, which is reversed by ATM kinase inhibition. (ox.ac.uk)
- Like BRCA1 and RAD51, BRCA2 relocates to PCNA+ replication sites following exposure of S phase cells to hydroxyurea or UV irradiation. (umassmed.edu)
- Endometrial and ovarian tissue levels of BRCA1, BRCA2, Rad51, and ATM (ataxia-telangiectasia mutated) mRNA expression were also compared. (frontiersin.org)
- Endometrial expression of BRCA1 and Rad51 mRNA proved significantly lower in the endometriosis group (vs. controls), as did ovarian expression of BRCA1 and BRCA2 mRNA. (frontiersin.org)
- These findings support a link between BRCA1/2-mutation status, immunogenicity and survival, and suggesting that BRCA1/2-mutated HGSOCs may be more sensitive to PD-1/PD-L1 inhibitors compared to HR-proficient HGSOCs. (nih.gov)
- Purine analogs and purine synthesis inhibitors (such as for example mycophenolate mofetil) inhibit DNA synthesis, reducing T and B cell proliferation thereby. (biobender.com)
- Targeted enrichment should preferentially amplify the target virus over host or environmental DNA/RNA, in contrast to random amplification commonly used prior to whole genome sequencing. (hindawi.com)
- We compared by Human Whole Genome Microarrays the expression profiles of HeLa cells transfected with one or the other variant and HeLa cells transfected with BRCA1 wild-type. (beds.ac.uk)
- Reduction of efficiency of restoration of the damaged genome leads to replication (division) of cell with altered DNA, which subsequently gives rise to the tumor focus. (dna-28.com)
- Tumor testing correctly diagnosed BRCA1/2 pathogenic mutations in 15/22 (68%) patients while in 7/22 (32%) patients, the mutation was either detected but incorrectly classified as VUS (n = 3) or not detected at all (n = 4). (cdc.gov)
- Overall concordance rate for tumor and blood testing for BRCA1/2 mutations was 88%, with 0% false positive and 32% false negative rate for pathogenic mutations. (cdc.gov)
- The investigators reported that 14.8% of the patients had pathogenic BRCA1 mutations and 2.4% had BRCA2 mutations. (jhoponline.com)