Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers

Abstract

The development of intervention strategies for carriers of mutations in the BRCA1 and BRCA2 genes has several considerations. The first are primary prevention and secondary prevention in unaffected carriers using medical/surgical or lifestyle strategies to prevent cancer development, or screening methods to detect cancers at an earlier stage. The options available are determined by the magnitude and age at onset, risk profile of cancer in carriers (the penetrance function of the gene) and the different cancer sites involved. The management of affected individuals who are BRCA1 and BRCA2 mutation carriers may be altered by their carrier status, because the tumour histology, efficacy of treatment and risk of subsequent cancer development is determined by the BRCA1 and BRCA2 germline status. Carriers of BRCA1 and BRCA2 mutations are relatively rare, so the strategies for management should be determined by international multicentre studies.

Figure 1

BRCA1 breast/ovarian cancer risk.

Figure 2

BRCA2 breast/ovarian cancer risk.