10
Management
Table 1. Management of Hereditary Breast Cancer in
BRCA1/2 vs. Moderate Penetrance Genes
Risk-Reduction/Second Cancer
For women with breast cancer who have a mutation in a moderate-penetrance
breast cancer predisposition gene and who have been treated or are being treated
with unilateral mastectomy, the decision regarding CRRM should not be based
predominantly on the mutation status. Additional factors that predict CBC such as
age at diagnosis and family history should be considered, as they are in all cases. e
impact of CRRM on decreasing risk of CBC is dependent on the risk of CBC for each
individual gene. Data regarding the risk of CBC due to moderate-penetrance genes are
limited.
e evidence regarding contralateral breast cancer risk is limited for mutations in
moderate-penetrance breast cancer genes, aside from some data for CHEK2 1100delC.
Information about the specific gene and what is known about the risk of contralateral
breast cancer should be discussed in the context of shared decision-making.
For breast cancer patients with a mutation in a moderate-penetrance gene who are
interested in risk-reducing mastectomy, physicians should discuss the option of nipple
sparing mastectomy as a reasonable oncologic option.
Patients with mutations in moderate-penetrance genes who do not have bilateral
mastectomy should undergo high-risk breast screening of remaining breast tissue with
annual mammogram and MRI.
Systemic Therapy Recommendations
For breast cancer patients with mutations in moderate-penetrance genes, there are
currently no robust data to support the use of PARP inhibitors.
(cont'd)
