Management of breast cancer in women with BRCA gene mutation

doi:10.1136/bmj.39114.354248.80

BMJ 2007;334:437-438 (3 March), doi:10.1136/bmj.39114.354248.80

Editorials

Management of breast cancer in women with BRCA gene mutation

Breast conservation surgery is safe in selected women when combinedwith adjuvant therapy

The first 150 words of the full text of this article appear below.

Germline mutation may account for up to 10% of breast cancers.¹Known mutations in the BRCA1 and BRCA2 genes are responsiblefor about 45% of breast cancer susceptibility syndromes (geneticabnormalities that put patients at high risk of developing breastcancer), which are inherited in an autosomal dominant pattern.¹Variants of the BRCA genes increase the overall risk of developingbreast cancer and are also associated with a high risk of earlyonset breast cancer.

Once BRCA1 or BRCA2 mutation has been confirmed, preventativestrategies include bilateral prophylactic mastectomy and intensivescreening with possible hormonal manipulation. Although preventionof primary breast cancer with mastectomy reduces the risk ofbreast cancer by 89.5-100%, understandably it is unacceptableto many women.²³ This is because it has a negative impact onself image, it involves major surgery, it cannot remove allrisk, and patients may find it hard to accept its theoreticalbenefit . . . [Full text of this article]

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

malcolm.kell@breastcheck.ie

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