Familial breast cancer: the classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care

National Institute for Health and Clinical Excellence

• Important messages to share with women with concerns:
  • most women do not develop breast cancer, and of those who do, most will not have a known family history of the disease
  • for most women, increasing age is the greatest risk factor
  • the great majority of women with a family history of breast cancer do not fall into a high-risk category and do not develop breast cancer
  • the great majority of women with a relative with breast cancer are not at substantially increased risk of breast cancer themselves

Key priorities for implementation

• Family history and referral:
  • when a woman presents with breast symptoms or has concerns about relatives with breast cancer, a first- and second-degree family history should be taken in primary care to assess risk, because this allows appropriate classification and care
  • healthcare professionals should respond to women who present with concerns, but should not, in most instances, actively seek to identify women with a family history of breast cancer
  • local protocols for the care of women at risk of familial breast cancer should be developed with clear referral mechanisms between primary, secondary and tertiary care, with appropriate facilities
• Care:
• access to psychological support and assessment is a key part of the package of care needed for many women covered by this guideline
• all women aged 40–49 years satisfying referral criteria to secondary or specialist care should be offered annual mammographic surveillance
• surveillance should only be undertaken after provision of information about its potential advantages and disadvantages for the early detection of breast cancer, and where offered, this should be of high quality (equivalent to NHS Breast Screening Programme standard) and audited
• women who are known to have a genetic mutation should be offered annual MRI surveillance if they are:
  • BRCA1 and BRCA2 mutation carriers aged 30–49 years
• TP53 mutation carriers aged 20 years or older
• MRI surveillance should be offered annually when indicated:

  from 30–39 years:

• to women at a 10-year risk of greater than 8%

from 40–49 years:

• to women at a 10-year risk of greater than 20%, or to women at a 10-year risk of greater than 12% where mammography has shown a dense breast pattern

• mammographic surveillance should only be undertaken after provision of information about its potential advantages and disadvantages for the early detection of breast cancer, and where offered, this should be of high quality (equivalent to NHS Breast Screening Programme standard) and audited
• genetic testing is appropriate only for a small proportion of women who are from high-risk families
• risk-reducing surgery (mastectomy and/or oophorectomy) is appropriate only for a small proportion of women who are from high-risk families and should be managed by a multidisciplinary team