Tumores ginecológicos en pacientes portadoras de mutación BRCA1 y BRCA2

Abstract

ObjectiveTo analyse the incidence of breast and ovarian cancer, and the characteristics of these tumours, in patients with BRCA1-2 mutations. Patients and methodsRetrospective observational study that included a total of 111 patients with a molecular diagnosis of mutation in BRCA1 (56) and / or BRCA2 (55) genes. ResultsIn 69.4% of the cases, genetic testing was performed after oncological diagnosis. The incidence of breast and ovarian cancer was 62.2% and 20.7%, respectively. The most frequent histological type of breast cancer was infiltrating ductal (89.7%). A total of 67.7% of breast tumours in BRCA1 patients had a triple negative phenotype and 80% of BRCA2 patients showed a luminal phenotype. Most (87%) ovarian cancers were high grade serous carcinomas. In 41.4% of the patients, prophylactic mastectomy was performed, with a coincidental pathological finding in 19.5% of the surgical specimens. In 41.4% of the patients, prophylactic bilateral salpingo-oophorectomy was performed, with 6.5% of surgical specimens showing pathological lesions. ConclusionsThe incidence of breast/ovarian cancer in patients harbouring BRCA 1-2 mutations is higher than in the general population, and the cancer develops in younger patients. However, the genetic diagnosis of the mutation is usually secondary to that of the oncological event. The early diagnosis of the mutation based on family history should be emphasised in order to initiate early screening and risk-reduction measures.