A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer

被引：6

作者：

Akizawa Y. ^{[1
,2
]}

Yamamoto T. ^{[2
]}

Tamura K. ^{[3
]}

Kanno T. ^{[1
]}

Takahashi N. ^{[1
]}

Ohki T. ^{[4
]}

Omori T. ^{[5
]}

Tokushige K. ^{[5
]}

Yamamoto M. ^{[4
]}

Saito K. ^{[2
]}

机构：

[1] Department of Obstetrics and Gynecology, Tokyo Women's Medical University, Tokyo

[2] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo

[3] Magor in Science, Graduate School of Science and Engineering Research, Kinki University, Higashiosaka

[4] Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo

[5] Institute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Tokyo

来源：

Human Genome Variation | / 5卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/s41439-018-0013-y

中图分类号：

学科分类号：

摘要：

Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient. © 2018 The Author(s).

引用

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