Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

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作者信息

Mary J L, Bishop T, Kolodner R, Lipford J R, Kane M, Weber W, Torhorst J, Müller H, Spycher M, Scott R J

机构信息

Department of Research, Kantonsspital, Basel, Switzerland.

出版信息

Hum Mol Genet. 1994 Nov;3(11):2067-9.

PMID:7874129

Abstract

摘要

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Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

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Are relatives of patients with multiple HNPCC spectrum tumours at increased risk of cancer?患有多种遗传性非息肉病性结直肠癌（HNPCC）谱系肿瘤患者的亲属患癌风险会增加吗？

Gut. 1998 Nov;43(5):664-8. doi: 10.1136/gut.43.5.664.

Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.hMSH2的缺失或体细胞突变发生在具有hMSH2种系突变的遗传性非息肉病性结直肠癌中。

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