decade after the discovery of BRCA1 and BRCA2 genes, the evident
very high lifetime risk for breast cancer (~80%) and ovarian
cancer (11-55%) for mutation carriers, reveals the urgent need
for live-saving preventive intervention.
scientific knowledge to achieve the goal of a 5-10% annual incidence
reduction of breast cancer through identification and prevention
of high-risk women exists, lack of good-quality evidence combined
with limitations and adverse effects of both genetic testing
and preventive interventions (surgical vs, nonsurgical) extremely
complicate prevention decisions-making. In the absence of standard
family-history and age-based criteria, decisions for offering
genetic counselling and mutation testing should balance risks
of missing young carriers and adverse effects. Most of these
challenges can be resolved if primary care prevention strategy
is orchestrated by specialized teams and a new algorithm meeting
these requirements is proposed.
high-quality evidence is still lacking, prophylactic bilateral
salpingo-oophorectomy (PBSO) after completion of childbearing
(35 to 40 years), appears to be the optimal prevention as compared
to bilateral mastectomy or nonsurgical prevention strategies.
Chemoprevention and/or surveillance should be considered only
for those women who reject prophylactic surgery.