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Japanese Journal of Clinical Oncology 32:266-269 (2002)
© 2002 Foundation for Promotion of Cancer Research

The Novel Germline Mutation of hMSH2 Gene in a Case of a Colon Cancer Patient Without Family History

Hideyuki Ishida1, Hiroshi Furukawa1, Masayuki Tatsuta1, Seizo Masutani1, Hiroshi Imamura1, Junzo Shimizu1, Norikazu Masuda1, Takatoshi Kawasaki1, Takashi Satomi1, Kokichi Sugano2, Noriko Fukayama2 and Naohiro Tomita3,+

1 Department of Surgery, Sakai Municipal Hospital, Osaka, 2 Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi and 3 Department of Surgery, Kansai Rosai Hospital, Hyogo, Japan

Hereditary non-polyposis colorectal cancer (HNPCC) is generally found from the patient’s family history. The functional disorder of mismatch repair genes has been reported to be responsible for HNPCC. The proband was a 28-year-old Japanese female who was admitted to our hospital with a diagnosis of descending colon cancer. Although there was no previous or family history of malignant disorders within the first- and second-degree relatives, the early onset of colon cancer prompted genetic analysis with suspicion of HNPCC. PCR analysis of the primary tumor showed DNA replication errors at the six microsatellite regions. PCR/direct sequential analysis of the peripheral lymphocytes revealed a germline frameshift mutation due to deletion of TTCAA at nt. position from 650 to 654 in exon 4 of the hMSH2 gene. According to the Human Mutation Database and International Collaborative Group on HNPCC Database, this type of the frameshift mutation is the first report in the hMSH2 gene.

+ For reprints and all correspondence: Hideyuki Ishida, Department of Surgery, Sakai Municipal Hospital, 1–1–1 Minami-Yasui-Cho, Sakai, Osaka 591-0064, Japan. E-mail: h.ishida@hospital.sakai.osaka.jp


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