A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
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Updated: Feb 6, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Yoshika Akizawa1,2, Toshiyuki Yamamoto2, Kazuo Tamura3
11Department of Obstetrics and Gynecology, Tokyo Women's Medical University, Tokyo, Japan.
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.
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