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YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| 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 | 2nd 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 |