title: Hereditary breast and ovarian cancer: new genes in confined pathways.
abstract: Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making.
authors: Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
authors: Finn Cilius
authors: FC
authors: Nielsen
authors: Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
authors: Thomas
authors: T
authors: van Overeem Hansen
authors: Biotech Research and Innovation Centre, University of Copenhagen, 2200 Copenhagen, Denmark.
authors: Claus Storgaard
authors: CS
authors: Sørensen
mesh_terms: D017209:Apoptosis / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D002453:Cell Cycle / Q000235:genetics; D004249:DNA Damage; D053843:DNA Mismatch Repair / Q000235:genetics; D004967:Estrogens; D005260:Female; D052138:Genes, Neoplasm; D018816:Genes, cdc; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009376:Neoplasms, Hormone-Dependent / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D011374:Progesterone; D012326:RNA Splicing / Q000235:genetics; D059767:Recombinational DNA Repair / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D004967:Estrogens; D011374:Progesterone