Fortnightly Review: Familial breast cancer

BMJ 1994;308:183-187 (15 January)

Education and debate

Fortnightly Review: Familial breast cancer

D G R Evans, I S Fentiman, K McPherson, D Asbury, B A J Ponder, A Howell

Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH ICRF Clinical Oncology Unit, Guy's Hospital, London SE1 9RT Department of Public Health and Policy, London School of Hygiene and Tropical Medicine, London WC1E 7HT Department of Radiology, Nightingale Breast Screening Unit, Withington Hospital, Manchester M20 8LR CRC Human Cancer Genetics Research Group, Department of Pathology, University of Cambridge, Cambridge CB2 1QP Department of Medical Oncology, Christie Hospital, Manchester M20 9BX.

Summary points

Summary points
Only about 5% of breast cancer is due to highly penetrant dominant genes
Familial breast cancer is more likely with early age at presentation, several affected relatives, bilaterality, and a history of related cancers.
There may be more than five genes causing familial breast cancer; the most important of these (BRCA1) has been located on chromosome 17, and DNA tests are possible for a few suitable families
DNA predictive tests raise several ethical issues, and adequate counselling must precede decisions whether to request testing
Family history clinics offer counselling, screening, and a focus for research into better methods of detection and prevention of breast cancer

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