The novel germline mutation of the hMLH1 gene in a case of suspected hereditary non-polyposis colorectal cancer (HNPCC) in a patient with no family history of cancer.
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| Abstract |
Hereditary non-polyposis colorectal cancer (HNPCC) is a very important clinical entity in oncology. In order to identify HNPCC, the international diagnostic criteria, named 'Amsterdam criteria', has been used. In this report, we present a patient with HNPCC who completely lacks a family history of cancer, thus does not meet the revised Amsterdam criteria and was finally confirmed as HNPCC by genetic testing which revealed a novel germline mutation of the hMLH1 gene. The proband was a 52-year-old Japanese female with a diagnosis of advanced ascending colon cancer. She had a past history of Miles' operation for rectal cancer at the age of 40. A subtotal colectomy was performed and the subsequent microsatellite instability (MSI) analysis revealed high MSI in the resected tumor tissue. PCR/direct sequencing analysis of the genomic DNA revealed the base deletion 2006delAAAAG at codon 669 in exon 18 of the hMLH1 gene, which was considered to be a pathogenic mutation. According to the Human Mutation Database and International Collaborative Group on HNPCC (ICG-HNPCC) Database, this is the first report of this type of deletion mutation in the hMLH1 gene.
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| Authors | Naohiro Tomita, Mutsumi Fukunaga, Shu Okamura, Ken Nakata, Hiroki Ohzato, Shigeyuki Tamura, Keishi Sugimoto, Tomohiko Aihara, Hirofumi Miki, Yuuichi Takatsuka, Nariaki Matsuura, Hideki Ishikawa, Takeshi Iwanaga, Noriko Fukayama, Kokichi Sugano |
| Journal | Japanese journal of clinical oncology (Jpn J Clin Oncol) Vol. 34 Issue 9 Pg. 556-60 (Sep 2004) ISSN: 0368-2811 [Print] England |
| PMID | 15466831 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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