title: [BRCA mutations: from Angelina Jolie to specific therapies].
abstract: While mutations in BRCA1 and BRCA2 are found in only a minority of breast cancer patients, their impact for those patients is important. It is a powerful risk factor for this disease with respectively 65% and 45% of the women developing breast cancer. It requires a specific screening program starting at age of 25 that includes magnetic resonance imaging and risk reduction measures such as bilateral mastectomy and oophorectomy can be proposed. The psychological impacts of the mutation and its implications are not negligible. The testimony of Angelina Jolie in 2013 certainly contributed to public awareness and helped the affected women to cope better with the situation. Cancer treatments are also influenced by detection of a mutation with an increased role for platinum derivatives and the recently developed specific therapies, such as PARP inhibitors.
authors.forename: Veronica Aedo
authors.initials: VA
authors.lastname: Lopez
authors.forename: Athina
authors.initials: A
authors.lastname: Stravodimou
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Lucien
authors.initials: L
authors.lastname: Perey
authors.forename: Khalil
authors.initials: K
authors.lastname: Zaman
mesh_terms: D000970:Antineoplastic Agents / Q000008:administration & dosage / Q000494:pharmacology; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control; D005197:Famous Persons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008403:Mass Screening / Q000379:methods; D008408:Mastectomy / Q000379:methods; D009154:Mutation; D010052:Ovariectomy / Q000379:methods; D040242:Risk Reduction Behavior
chemical_list: D000970:Antineoplastic Agents; D019313:BRCA1 Protein; D024682:BRCA2 Protein