Approximately, 7 % of all
breast cancers (BC) and 11-15 % of
ovarian cancers (OC) are associated with inherited predisposition, mainly related to
germline mutations in high
penetrance BRCA1/2
genes. Clinical criteria for
genetic testing are based on personal and
family history to estimate a minimum 10 %
detection rate.
Selection criteria are evolving according to new advances in this field and the clinical utility of
genetic testing. Multiplex panel testing carries its own challenges and we recommend inclusion of
genes with clinical utility. We recommend
screening with annual
mammography from age 30 and
breast MRI from age 25 for BRCA1 and BRCA2
mutation carriers. Bilateral
salpingo-oophorectomy should be offered to
women with a BRCA1 or BRCA2
mutation, between 35 and 40 years and after completion of childbearing, or individualise based on the earliest age of
ovarian cancer diagnosed in the
family. Bilateral
risk-reducing
mastectomy is an option for healthy BRCA1 and BRCA2
mutation carriers, as well as contralateral
mastectomy for young
patients with a prior BC
diagnosis. BRCA
genetic testing in
patients with BC and OC may influence their locoregional and systemic
treatment