NICE guidance - referral criteria for familial breast cancer

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Guidance regarding referral of women with a history of familial breast cancer has been produced by NICE (1).

When considering referral decisions then attempts should be made to gather as accurate information as possible on:

  • age of diagnosis of any cancer in relatives
  • site of tumours
  • multiple cancers (including bilateral disease)
  • Jewish ancestry
  • Carrier probability at which genetic testing should be offered

    When available in secondary care, use a carrier probability calculation method with demonstrated acceptable performance (in 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

    • 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

    Breast cancer risk category

    Near population risk Moderate risk High Risk *
    Lifetime risk from age 20 Less than 17% Greater than 17% but less than 30% 30% or greater
    Risk between ages 40 and 50 Less than 3% 3-8% Greater than 8%

    *This group includes known BRCA1, BRCA2 and TP53 mutations and rare conditions that carry an increased risk of breast cancer such as Peutz-Jegher syndrome (STK11), Cowden (PTEN) and familial diffuse gastric cancer (E-Cadherin)

  • 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 a TP53 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

Women considered at 'near population risk' are managed in primary care.

The criteria defining when a women is 'near population risk' and appropriate for management in primary care are defined in the linked item below.

Reference:

  1. NICE guidance (June 2013). The classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care.

Last reviewed 01/2018

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