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.