Clinical Review

Management of women at high risk of breast cancer

BMJ 2014; 348 doi: http://dx.doi.org/10.1136/bmj.g2756 (Published 28 April 2014) Cite this as: BMJ 2014;348:g2756
  1. Anne C Armstrong, consultant medical oncologist1,
  2. Gareth D Evans, professor of medical genetics and cancer epidemiology23
  1. 1Department of Oncology, Christie Hospital Manchester, Manchester, UK
  2. 2Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK
  3. 3Department of Genetic Medicine, St Mary’s Hospital, Central Manchester Foundation Trust, Manchester, UK
  1. Correspondence to: A C Armstrong anne.armstrong{at}christie.nhs.uk

Summary points

  • The risk of breast cancer is multifactorial, but some women will have a high risk because of a genetic predisposition or, rarely, as a consequence of radiotherapy at a young age

  • Women with a family history suggestive of a genetic predisposition to cancer should be referred to local genetics services for formal assessment

  • Annual magnetic resonance imaging and mammography (unless a carrier of the TP53 gene) in high risk women identifies more breast cancers than does mammography alone

  • Risk reducing bilateral salpingo-oophorectomy and risk reducing mastectomy reduces the risk of breast cancer by 50% and 90-95%, respectively, in carriers of BRCA1 and BRCA2 mutations

  • Chemoprevention with drugs such as tamoxifen for five years reduces the risk of breast cancer by about 30% and can be a useful alternative to risk reducing surgery

Breast cancer is the commonest malignancy diagnosed in women worldwide and accounts for over 30% of all cancers diagnosed in women in the United Kingdom.1 The average lifetime risk of developing breast cancer for women in the United Kingdom and United States is estimated to be 12%,1 although this may be an overestimate, as it is not clear what age this assumes a woman lives to and whether full adjustment has been made for those who die young from other causes. It is also unclear whether multiple breast cancers in a single woman are counted as several women with breast cancer.

Sources and selection criteria

We searched PubMed using search terms such as “breast cancer risk” and “hereditary breast cancer.” Studies included were those written in English, and included case-control studies, randomised control trials, and meta-analyses. We also consulted relevant national and international guidelines, including those of the National Institute for Health and Care Excellence, and we were part of the NICE Guideline Development Group where all relevant evidence was …

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