title: In brief: BRCA1 and BRCA2.
abstract: The discovery of the first major breast cancer susceptibility gene, BRCA1, occurred almost 20 years ago. BRCA1, together with BRCA2 remain the most important discoveries in human cancer genetics. Identification of highly penetrant mutations in these two tumour suppressor genes has had broad implications for women at risk and their families, for health professionals caring for these persons and for basic researchers. The BRCA proteins have many critical functions, the most notable of which, from a clinical perspective, is repair of double-strand DNA breaks.
authors.affiliation: Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.forename: Andrew Y
authors.initials: AY
authors.lastname: Shuen
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001943:Breast Neoplasms / Q000737:chemistry / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D053903:DNA Breaks, Double-Stranded; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D058990:Molecular Targeted Therapy; D009154:Mutation; D010051:Ovarian Neoplasms / Q000737:chemistry / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D057285:Precision Medicine; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D000970:Antineoplastic Agents; D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D014408:Biomarkers, Tumor
keywords: DNA repair; PARP; breast cancer; cisplatinum; ovarian cancer; pathology; targeted therapy; triple negative