Is breast conservation therapy appropriate for mutation carriers?

While most breast cancer patients who are mutation carriers elect mastectomy, breast conservation is an appropriate treatment option. Patients should be counseled that although their overall survival is comparable whether they are treated with BCT or mastectomy, their risk of local failure is higher with BCT and they remain at risk for a contralateral cancer if the opposite breast is preserved. Pierce et al (2010) compared clinical outcomes in women with BRCA1/2 mutations treated with BCT to out...

It is important to note that in an era with increasing use of panel testing more and more functional mutations in other breast cancer susceptibility genes besides BRCA1/2 are being identified. While breast conserving therapy is not an absolute contraindication in patients with BRCA1/2 mutations, these patients are at high risk for the development of new primaries and mastectomy is elected by many women. That said, mutations in other common breast cancer predisposition genes such as PALB2, CHEK2,...