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How do you counsel your PALB2 mutation positive breast cancer patients with regards to risk reducing surgery?

How does this mutation compare to BRCA mutations in terms of risk and screening implications for family members?
1 Answer
Mednet MemberInvited Expert
Surgical Oncology · Virginia Commonwealth University School of Medicine
Answered on

I counsel patients with PALB2 mutations that their lifetime risk of breast cancer approaches that of a BRCA2 carrier. There is some element of penetrance of the gene in a familial cohort so that the lifetime risk of breast cancer ranges from about 30% to almost 60% (Antoniou et al. NEJM 2014). Despite this demonstrated risk, we do not have data that prophylactic surgery improves survival, like we do in BRCA carriers. However, with similar risks and no reason to believe there would be additional competing comorbidities, one can reasonably conclude the risk reduction benefit would be similar. Based on this, I feel comfortable offering medical and/or surgical risk reduction for carriers of the gene.