Intended for healthcare professionals

  1. Education
  2. Care of men with...
  3. Care of men with cancer-predisposing BRCA variants
Practice Practice Pointer

Care of men with cancer-predisposing BRCA variants

BMJ 2021; 375 doi: https://doi.org/10.1136/bmj.n2376 (Published 14 October 2021) Cite this as: BMJ 2021;375:n2376

This article has a correction. Please see:

  1. Rachel Horton, clinical training fellow1 2,
  2. Paul Pharoah, professor of cancer epidemiology3,
  3. Judith Hayward, general practitioner with special interest in genetics, primary care adviser to Health Education England Genomics Education Programme, RCGP joint clinical champion in genomics medicine with Imran Rafi4 5,
  4. Anneke Lucassen, professor of clinical genetics1 6
  1. 1Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK
  2. 2Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
  3. 3Department of Public Health and Primary Care, Department of Oncology, Cambridge Cancer Centre, University of Cambridge, UK
  4. 4Yorkshire Regional Genetics Service, Leeds, UK
  5. 5Shipley Medical Practice, Affinity Care, Shipley, UK
  6. 6Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
  1. Correspondence to A Lucassen anneke.lucassen{at}well.ox.ac.uk

What you need to know

  • Men and women are equally likely to inherit or pass on a cancer-predisposing BRCA variant—family history of cancers needs to encompass both sides of the family

  • Men with cancer-predisposing BRCA variants have an increased risk of developing breast cancer and are advised to be breast aware

  • Men with cancer-predisposing BRCA2 variants have an increased risk of developing aggressive prostate cancer (men with cancer-predisposing BRCA1 variants may also have an increased risk); it is not yet known whether prostate specific antigen screening reduces mortality in men with cancer-predisposing BRCA variants

  • The European Association of Urology recommends that PSA screening is offered to men with cancer-predisposing BRCA2 variants from 40 years of age after discussion of the risks and benefits

Around one in 260 men (~0.4%) inherits a cancer-predisposing BRCA variant that increases their risk of developing prostate, pancreatic, and breast cancer and may affect the health of their family.12 Most of these men are currently unaware that they have a cancer-predisposing BRCA variant, but as genetic testing becomes more common, more men will need medical advice about what having such a variant means for them and their families.

Men are just as likely as women to have a cancer-predisposing BRCA variant, but many people perceive these variants as only being relevant to women. Paradoxically, this could lead to women at very high risk of breast and ovarian cancer missing out on screening and risk-lowering treatment despite a concerning paternal family history. Clinicians might also be less attuned to paternal family history of cancer in assessing women’s breast cancer risk.3 This practice pointer covers what cancer-predisposing BRCA variants are, who might be tested; and what health issues men and their clinicians need to know about. We refer to men but this article may also apply to some transgender and …

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