A
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.
Although 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.
Although 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.
