© 2002 Journal of Medical Genetics
LETTER TO JMG
Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future
1 North West Regional Genetics Service and University Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK
2 CRC Psychological Medicine Group, Christie Hospital NHS Trust, Stanley House, Wilmslow Road, Withington, Manchester M20 4BX, UK
3 Department of Medical Oncology, Christie Hospital, Wilmslow Road, Withington, Manchester M20 4BX, UK
Correspondence to:
Correspondence to:
M McAllister PhD, Macmillan Cancer Genetic Associate, Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK;
mmcallister@central.cmht.nwest.nhs.uk
Keywords: genetics counselling; breast cancer; family history; training
| The first 150 words of the full text of this article appear below. |
Breast cancer is common in the general population, affecting one woman in every 12. About 5% of breast cancers are caused by dominantly inherited high risk susceptibility mutations in genes such as BRCA1 and BRCA2.1–4 Another, larger proportion may be caused by mutations in (as yet) unidentified lower penetrance genes, because even where such high risk mutations are not implicated, a family history of breast cancer increases a woman's lifetime risk of developing the disease herself.2 There are no external markers of risk (no phenotype) to help identify those who carry a faulty gene, except in very rare cases such as Cowden's disease.5 In order to assess the likelihood of there being a predisposing mutation in a family, it is necessary to assess the family tree. Inheritance of a germline mutation can cause the disease at a young age and often, if the woman survives, cancer in the contralateral
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This article has been cited by other articles:
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Evans, D G R, Lalloo, F
(2002). Risk assessment and management of high risk familial breast cancer. J. Med. Genet.
39: 865-871
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