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

ABSTRACT: 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.

SUBMITTER: Akizawa Y

PROVIDER: S-EPMC6013486 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Akizawa Yoshika Y Yamamoto Toshiyuki T Tamura Kazuo K Kanno Toshiyuki T Takahashi Nobuko N Ohki Takeshi T Omori Teppei T Tokushige Katsutoshi K Yamamoto Masakazu M Saito Kayoko K

Human genome variation 20180621

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 ...[more]

PMID: 30083359

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

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