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Japanese Journal of Clinical Oncology 33:486-489 (2003)
© 2003 Foundation for Promotion of Cancer Research

The Novel Germline Mutation of hMSH2 Gene in a Case of a Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patient Who Meets the Revised Amsterdam Criteria

Naohiro Tomita1, Mutsumi Fukunaga1, Hiroki Ohzato1, Shigeyuki Tamura1, Keishi Sugimoto1, Tomohiko Aihara1, Hirofumi Miki1, Yuuichi Takatsuka1, Nariaki Matsuura2, Takeshi Iwanaga3, Noriko Fukayama4 and Kokichi Sugano4,+

1 Department of Surgery, Kansai Rosai Hospital, Amagasaki, Hyogo, 2 Department of Pathology, School of Allied Health Science, Faculty of Medicine, Osaka University, Suita, Osaka, 3 Aino-Gakuen College, Ibaraki, Osaka and 4 Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Utsunomiya, Japan

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’ have been used. In this report, we present a case of an HNPCC patient who met the revised Amsterdam criteria after the sequential history taking in which a novel germline mutation of hMSH2 gene was detected by genetic testing. The proband was a 69-year-old Japanese female who was admitted to our hospital with a diagnosis of advanced ascending colon cancer. Microsatellite instability (MSI) analysis revealed high MSI in the resected tumor tissue. PCR/direct sequencing analysis of the genomic DNA revealed the TTG(Leu) to TAG(Stop) nonsense mutation at codon 302 in exon 5 of the hMSH2 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 type of nonsense mutation is the first report in the hMSH2 gene.

+ For reprints and all correspondence: Naohiro Tomita, Department of Surgery, Kansai Rosai Hospital, 3–1–69, Inaba-so, Amagasaki, Hyogo 660-8511, Japan. E-mail: ntomita{at}kanrou.net


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N. Tomita, M. Fukunaga, S. Okamura, K. Nakata, H. Ohzato, S. Tamura, K. Sugimoto, T. Aihara, H. Miki, Y. Takatsuka, et al.
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
Jpn. J. Clin. Oncol., September 1, 2004; 34(9): 556 - 560.
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