NICE guidance - referral criteria for familial breast cancer

Last reviewed 12/2022

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.