BRCA mutations in the management of breast cancer: the state of the art.
Genetic testing for BRCA1 and BRCA2 mutations is gaining acceptance in clinical oncology worldwide and may help target unaffected high-risk women for prevention and for close surveillance. Annual screening with MRI seems to be an effective surveillance strategy, but the long term follow-up of women with small MRI-detected breast cancers is necessary to establish its ultimate value. Women with cancer and a BRCA mutation may benefit from tailored treatments, such as cisplatin or olaparib. The treatment goals for a woman with a BRCA-associated breast cancer should be to prevent recurrence of the initial cancer and to prevent second primary breast and ovarian cancers. Mutations in BRCA1 and BRCA2 are presented throughout the world and it is important that the benefits of genetic testing and of targeted therapies be extended to women who live outside of North America and Western Europe.
Narod
Steven A
SA
Womens College Research Institute, 790 Bay Street, Toronto, ON M5G 1N8, Canada. steven.narod@wchospital.ca
D000328:Adult; D000970:Antineoplastic Agents / Q000145:classification / Q000494:pharmacology / Q000627:therapeutic use; D018931:Antineoplastic Agents, Hormonal / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000628:therapy; D002945:Cisplatin / Q000627:therapeutic use; D004965:Estrogen Antagonists / Q000627:therapeutic use; D005006:Ethnicity / Q000235:genetics; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000191:economics; D008875:Middle Aged; D058990:Molecular Targeted Therapy; D009154:Mutation; D009364:Neoplasm Recurrence, Local / Q000517:prevention & control; D016609:Neoplasms, Second Primary / Q000208:ethnology / Q000235:genetics / Q000517:prevention & control; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000628:therapy; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics / Q000517:prevention & control; D010052:Ovariectomy; D010793:Phthalazines / Q000627:therapeutic use; D010879:Piperazines / Q000627:therapeutic use; D000067856:Poly(ADP-ribose) Polymerase Inhibitors; D013629:Tamoxifen / Q000627:therapeutic use
D000970:Antineoplastic Agents; D018931:Antineoplastic Agents, Hormonal; D004965:Estrogen Antagonists; D010793:Phthalazines; D010879:Piperazines; D000067856:Poly(ADP-ribose) Polymerase Inhibitors; D013629:Tamoxifen; D002945:Cisplatin; C531550:olaparib