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18. 乳腺癌的遗传学

18. Genetics of breast cancer.

作者信息

Irving M, Elmslie F, Berg J

机构信息

Department of Clinical Genetics, Guy's Hospital, London, UK.

出版信息

Int J Clin Pract. 2002 Nov;56(9):677-82.

Abstract

It is well known that breast cancer often occurs in clusters within families. This clustering can be attributed to mutations in the breast cancer susceptibility genes, BRCA1 and BRCA2, in 16% of familial cases. Women with a family history of breast cancer, in whom no mutation is identified, are still at increased risk of developing the disease. This review addresses methods for estimating and stratifying risk of developing breast cancer based on family history. It also indicates how to identify patients likely to carry mutations in BRCA1 or BRCA2 and gives recommendations for intervention for women with a family history of breast cancer.

摘要

众所周知,乳腺癌在家族中常常呈聚集性发生。在16%的家族性病例中,这种聚集性可归因于乳腺癌易感基因BRCA1和BRCA2的突变。有乳腺癌家族史但未发现突变的女性,患该病的风险仍然增加。本综述探讨了基于家族史估计和分层患乳腺癌风险的方法。它还指出了如何识别可能携带BRCA1或BRCA2突变的患者,并为有乳腺癌家族史的女性提供干预建议。

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