Saito Kayoko    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor (Fixed Term)
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer.
Journal	Formal name：Human genome variation Abbreviation：Hum Genome Var ISSN code：2054345X/2054345X
Volume, Issue, Page	5,pp.13
Author and coauthor	Akizawa Yoshika, Yamamoto Toshiyuki, Tamura Kazuo, Kanno Toshiyuki, Takahashi Nobuko, Ohki Takeshi, Omori Teppei, Tokushige Katsutoshi, Yamamoto Masakazu, Saito Kayoko
Publication date	2018
Summary	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.
DOI	10.1038/s41439-018-0013-y
PMID	30083359