• Harmful mutations of the BRCA genes interfere with the protective function of these tumour suppressor genes, thus rendering the individual at higher risk of developing breast and other cancers.
  • BRCA1 and BRCA2 are inherited in an autosomal dominant manner.
  • Estimated lifetime risks
Tumour type Population risk BRCA1 BRCA2
Female breast 12% 60-90% 45-85%
Ovarian 1.4% 40-60% 10-30%
Male breast 0.1% 0.1-1% 5-10%
Prostate 10% 10% 20-25%
  • In primary care:-
    • Do not actively seek to find persons with a family history of breast cancer
    • First and second degree family history for those that present with concerns
    • If clinically relevant take family history for those over 35 on combined OCP or considering HRT
    • Second degree family history should include paternal and maternal relatives
    • For referral decisions be as accurate as possible with:-

      • Age of diagnosis
      • Tumour sites
      • Multiple cancers in an individual (including bilateral breast)
      • Jewish ancestry (5-10 x more likely to carry BRCA mutation)
      • NICE suggests that information that should be given to all patients presenting with concerns
  • Depending on their individual risk calculation patients may be offered:-
  1. A change in their breast screening program
  2. Prophylactic surgery
  3. Chemoprevention
  4. Genetic testing
  5. Lifestyle advice
  • GPs in Wales may be asked to initiate chemoprophylaxis with Tamoxifen (premenopausal women) or Raloxifine or Tamoxifen (postmenopausal women). This therapy is endorsed by NICE but off licence.
  • Chemoprophylaxis carries risks as well as benefits and the prescriber should be aware of these factors




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