Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia

Objective. To detect mutations in the BRCA1 and BRCA2 genes by means of the protein truncation test (PTT) in a population in northern Portugal and Galicia with breast and ovarian cancer. Design. Prospective study. Setting. Patients in northern Portugal and Galicia with family history of breast and/or ovarian cancer. Patients. A total of 76 women with family history of breast cancer according to the BCLC criteria (Breast Cancer Linkage Consortium) were studied at IPATIMUP. Main results. Five cases (6.5%) with changes in the normal sequence in genes BRCA1 and BRCA2 were identified; three of these mutations occurred in the gene BRCA1 and the other two in the gene BRCA2. Two out of the three mutations found in the gene BRCA1 were "de nova mutations". Changes detected in the normal sequence in the gene BRCA2 were mutations reported for the first time among the study population, according to the information obtained through the BCIC dabatase (Breast Cancer Information Core). Conclusions. This was the first study in detecting individuals carrying mutations in the susceptibility breast cancer genes BRCA1 and BRCA2 among the population of northern Portugal and Galicia.