Management of breast cancer in women with BRCA gene mutationBMJ 2007; 334 doi: https://doi.org/10.1136/bmj.39114.354248.80 (Published 01 March 2007) Cite this as: BMJ 2007;334:437
- Malcolm R Kell, consultant surgeon and senior lecturer,
- John P Burke, research registrar
- Eccles Breast Screening Unit, Mater Misericordiae University Hospital, University College Dublin, Dublin 7, Ireland
Germline mutation may account for up to 10% of breast cancers.1 Known mutations in the BRCA1 and BRCA2 genes are responsible for about 45% of breast cancer susceptibility syndromes (genetic abnormalities that put patients at high risk of developing breast cancer), which are inherited in an autosomal dominant pattern.1 Variants of the BRCA genes increase the overall risk of developing breast cancer and are also associated with a high risk of early onset breast cancer.
Once BRCA1 or BRCA2 mutation has been confirmed, preventative strategies include bilateral prophylactic mastectomy and intensive screening with possible hormonal manipulation. Although prevention of primary breast cancer with mastectomy reduces the risk of breast cancer by 89.5-100%, understandably it is unacceptable to many women.23 This is because it has a negative impact on self image, it involves major surgery, it cannot remove …