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-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)
  • 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)
  • DNA, Neoplasm" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • To correlate the expression of seven biomarkers involved in DNA synthesis and repair and in cell division with clinical outcome, we consecutively collected 82 tumour tissues from radically resected NSCLC patients. (nih.gov)
  • 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)
  • 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)
  • 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)
  • 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)
  • Losses of BRCA1 markers correlated with larger tumour size, higher grade, and PgR expression. (nih.gov)
  • 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)
  • Indeed, growing evidence is now becoming available on impaired reparation of double-strand DNA breaks in cells heterozygous for BRCA1 mutations, implying an enhanced mutability of BRCA1 +/- cells. (elsevier.com)