- D Gareth Evans, professor of genetic medicine1,
- John Graham, director and consultant in clinical oncology2,
- Susan O’Connell, researcher2,
- Stephanie Arnold, information specialist2,
- Deborah Fitzsimmons, health economist3
- 1Department of Genetic Medicine, St Mary’s Hospital, Manchester M13 9WL, UK
- 2National Collaborating Centre for Cancer, Cardiff CF10 3AF, UK
- 3Swansea Centre for Health Economics, Swansea University, Swansea SA2 8PP, UK
- Correspondence to: J Graham
Familial breast cancer occurs in people with one or more family members affected by breast, ovarian, or a related cancer such as primary peritoneal cancer. About 5% of all breast cancers can be attributed to inherited mutations in specific high risk genes such as BRCA1, BRCA2, and TP53.
This article summarises the most recent recommendations from the National Institute for Health and Care Excellence (NICE) on the classification and care of people at risk of familial breast cancer.1 The guideline updates previous NICE guidance on familial breast cancer, published in 2004 and 2006.2 3 It also provides new guidance on men and women with a newly or previously diagnosed breast cancer who have a family history of breast and ovarian cancer, as they were excluded from previous guidance.4
NICE recommendations are based on systematic reviews of the best available evidence and explicit consideration of cost effectiveness. When minimal evidence is available, recommendations are based on the Guideline Development Group’s experience and opinion of what constitutes good practice. Evidence levels for the recommendations are given in italic in square brackets.
Information and support for patients
Offer patients individually tailored information, including information about sources of support (including local and national organisations). [Based on the experience and opinion of the Guideline Development Group (GDG)]
Initial assessment in primary care for people without a personal history of breast cancer
When a person with no personal history of breast cancer presents with breast symptoms or has concerns about relatives with breast cancer, take a first and second degree family history to assess risk, as this allows appropriate classification and care.
Attempt to gather information that is as accurate as possible on age of diagnosis of any cancer in relatives, site of tumours, multiple cancers (including bilateral disease), or Jewish ancestry.
Offer referral to secondary care for breast cancer risk estimation if the person meets any of the following …