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

Yoshika Akizawa; Toshiyuki Yamamoto; Kazuo Tamura; Toshiyuki Kanno; Nobuko Takahashi; Takeshi Ohki; Teppei Omori; Katsutoshi Tokushige; Masakazu Yamamoto; Kayoko Saito

doi:10.1038/s41439-018-0013-y

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

Hum Genome Var. 2018 Jun 21:5:13. doi: 10.1038/s41439-018-0013-y. eCollection 2018.

Authors

Affiliations

¹ 1Department of Obstetrics and Gynecology, Tokyo Women's Medical University, Tokyo, Japan.
² 2Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
³ 3Magor in Science, Graduate School of Science and Engineering Research, Kinki University, Higashiosaka, Japan.
⁴ 4Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo, Japan.
⁵ 5Institute of Gastroenterology, Department of Internal Medicine, 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.

Publication types

Case Reports