秋澤 叔香
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Assistant Professor
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
Authorship Lead author
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