Hereditary Risk Assessment for BRCA Breast and/or Ovarian Cancer

Author(s): María Teresa Martínez, Marta Tapia, Lina Candia, Begoña Bermejo, Iris Garrido-Cano, Anna Adam-Artigues, Pilar Eroles, Ana Lluch, Inmaculada de Juan, Estela Contel, Cristina Hernando, Sara S Oltra, Juan M. Cejalvo, Isabel Chirivella

Germline BRCA1 and BRCA2 (BRCA1/2) mutations are most frequently associated with hereditary breast/ovarian cancer. The study of genetic discriminators and dysregulated pathways involved in hereditary breast/ovarian syndromes has been key in the development of molecular diagnostic strategies, targeted therapies (such as PARP inhibitors), and prevention approaches. The recent development and implementation of next generation sequencing technologies has improved patient selection processes to offer such prevention and surveillance strategies. This review summarizes current knowledge on management and follow-up of BRCA mutation patients and carriers, and also reviews current research lines on the subject that could help improve future management of BRCA germline mutant patients.