Breast Cancer Risk-reducing Strategies in BRCA1/2 Mutation Carriers

摘要: __Abstract__ Breast cancer (BC) is the most common type of in women developed countries. Currently, approximately 14,000 are diagnosed with BC every year Netherlands. One out eight Dutch (12%-13%) will develop during their life, and 3% to 4% of all die from BC. A genetic predisposition may be responsible for about 5% 10% cases. Approximately 25% these cases can attributed a mutation one BReast CAancer (BRCA) genes, BRCA1 BRCA2. Both genes act as tumour suppressor genes and involved important cell functions, including cycle control, gene expression regulation, DNA repair mechanisms. Cells deficiencies DNA repair unable double-strand breaks, resulting genomic instability a predisposition malignant transformation. BRCA1/2 carriers have an increased risk developing first BC, estimated to range 45% 88% by age 70.8-13 The estimated cumulative lifetime risk of contralateral 65-87% carriers, 52-62% for BRCA2 carriers. Adjuvant treatment Tamoxifen after unilateral BC may reduce 50%. a contralateral also depend on at diagnosis adjuvant with chemotherapy.