criteria for referral to secondary care (familial breast cancer)

Last reviewed 12/2022

• Offer referral to secondary care for breast cancer risk estimation if the person meets any of the following criteria:
  
  
  • One first degree female relative with breast cancer at <40 years of age or
    
    
  • One first degree male relative with breast cancer at any age or
    
    
  • One first degree relative with bilateral breast cancer where the first primary was diagnosed at <50 years of age or
    
    
  • Two first degree relatives, or one first degree plus one second degree relative, with breast cancer at any age or
    
    
  • One first degree or second degree relative with breast cancer at any age plus one first degree or second degree relative with ovarian cancer at any age (one of these should be a first degree relative) or
    
    
  • Three first degree or second degree relatives on the same side of the family with breast cancer at any age
    
    
  • Women who do not meet these criteria can be reassured that they are at near population risk of getting breast cancer and do not require referral for specific breast cancer risk estimation.

Breast cancer risk category

*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
  

• Advice should be sought from the designated secondary care contact if any of the following are present in the family history in addition to breast cancers in relatives not fulfilling the above criteria:
  • bilateral breast cancer
  • male breast cancer
  • ovarian cancer
  • Jewish ancestry
  • sarcoma in a relative younger than age 45 years
  • glioma or childhood adrenal cortical carcinomas
  • complicated patterns of multiple cancers at a young age
  • paternal history of breast cancer (two or more relatives on the father's side of the family)
    
    
• Discussion with the designated secondary care contact should take place if the primary care health professional is uncertain about the appropriateness of referral because the family history presented is unusual or difficult to make clear decisions about, or where the person is not sufficiently reassured by the standard information provided
  
  
• Direct referral to a specialist genetics service should take place where a highrisk predisposing gene mutation has been identified (for example, BRCA1, BRCA2 or TP53).

When considering referral regarding familial breast cancer, then the full NICE guidance (1) should be consulted.

Notes:

• 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

Reference:

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