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Terms used in this guideline

  • First-degree relatives Mother, father, daughter, son, sister, brother
  • Second-degree relatives Grandparent, grandchild, aunt, uncle, niece, nephew, half-sister, half-brother
  • Third-degree relatives Great grandparent, great aunt, great uncle, first cousin, great grandchild, grand nephew, grand niece

Key priorities for implementation

  • The following recommendations have been identified as priorities for implementation

Family history and carrier probability

  • When available in secondary care, use a carrier probability calculation method with demonstrated acceptable performance (calibration and discrimination) as well as family history to determine who should be offered referral to a specialist genetic clinic. Examples of acceptable methods include BOADICEA and the Manchester scoring system

Information and support

  • To ensure a patient–professional partnership, patients should be offered individually tailored information, including information about sources of support (including local and national organisations)

Carrier probability at which genetic testing should be offered

  • Offer genetic testing in specialist genetic clinics to a relative with a personal history of breast and/or ovarian cancer if that relative has a combined BRCA1 and BRCA2 mutation carrier probability of 10% or more
  • Offer genetic testing in specialist genetic clinics to a person with no personal history of breast or ovarian cancer if their combined BRCA1 and BRCA2 mutation carrier probability is 10% or more and an affected relative is unavailable for testing

Surveillance for women with no personal history of breast cancer

  • Offer annual mammographic surveillance to women:
    • aged 40–49 years at moderate risk of breast cancer
    • aged 40–59 years at high risk of breast cancer but with a 30% or lower probability of being a BRCA or TP53 carrier
    • aged 40–59 years who have not had genetic testing but have a greater than 30% probability of being a BRCA carrier
    • aged 40–69 years with a known BRCA1 or BRCA2 mutation
  • Offer annual MRI surveillance to women:
    • aged 30–49 years who have not had genetic testing but have a greater than 30% probability of being a BRCA carrier
    • aged 30–49 years with a known BRCA1 or BRCA2 mutation
    • aged 20–49 years who have not had genetic testing but have a greater than 30%
    • probability of being a TP53 carrier
    • aged 20–49 years with a known TP53 mutation

Surveillance for women with a personal and family history of breast cancer

  • Offer annual mammographic surveillance to all women aged 50–69 years with a personal history of breast cancer who:
    • remain at high risk of breast cancer (including those who have a BRCA1 or BRCA2 mutation), and
    • do not have aTP53 mutation
  • Offer annual MRI surveillance to all women aged 30–49 years with a personal history of breast cancer who remain at high risk of breast cancer, including those who have a BRCA1 or BRCA2 mutation

Chemoprevention for women with no personal history of breast cancer

  • Offer either tamoxifen* or raloxifene for 5 years to postmenopausal women with a uterus and at high risk of breast cancer unless they have a past history or may be at increased risk of thromboembolic disease or endometrial cancer

Risk-reducing mastectomy for women with no personal history of breast cancer

  • All women considering bilateral risk-reducing mastectomy should be able to discuss their breast reconstruction options (immediate and delayed) with a member of a surgical team with specialist oncoplastic or breast reconstructive skills

*At the time of publication (June 2013), tamoxifen did not have a UK marketing authorisation for this indication. The prescriber should follow relevant professional guidance, taking full responsibility for the decision. Informed consent should be obtained and documented. See the General Medical Council’s Good practice in prescribing and managing medicines and devices for further information.

At the time of publication (June 2013), raloxifene did not have a UK marketing authorisation for this indication. The prescriber should follow relevant professional guidance, taking full responsibility for the decision. Informed consent should be obtained and documented. See the General Medical Council’s Good practice in prescribing and managing medicines and devices for further information.

Care and management of people in primary care

Care and management of people in primary care

full guideline available from…
National Institute for Health and Care Excellence, Level 1A, City Tower, Piccadilly Plaza, Manchester, M1 4BT
www.nice.org.uk/guidance/CG164

National Institute for Health and Care Excellence. Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer. June 2013


First included: Oct 13.