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Abstract
Germline mutations of the STK11 gene lead to emergence of hamartomas in the gastrointestinal tract of patients with Peutz‐Jeghers syndrome, who bear an increased risk of malignancies of the gastrointestinal tract, genital tract, and other organs. We analyzed 80 sporadic colorectal cancers, six small‐intestinal cancers, and 40 gastric cancers for somatic mutations of STK11 by SSCP methods. Among them only one colorectal cancer, which showed a phenotype of microsatellite instability, was found to possess a deleterious mutation in this gene, a frameshift involving deletion of one base at codons 279–281. This region of the gene contains a mononucleotide‐repeat sequence, CCCCCC. The other allele of STK11 had been lost in this tumor. If the STK11 gene is one of the mutational targets of microsatellite instability, its inactivation may be associated with tumor development in a small proportion of colorectal cancers.
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1 Division of Clinical Genetics, Biomedical Research Center, Osaka University Medical School, 2–2 Yamadaoka, Suita, Osaka 565–0871; Second Department of Surgery, Osaka University Medical School, 2–2 Yamadaoka, Suita, Osaka 565–0871
2 Division of Clinical Genetics, Biomedical Research Center, Osaka University Medical School, 2–2 Yamadaoka, Suita, Osaka 565–0871
3 Second Department of Surgery, Osaka University Medical School, 2–2 Yamadaoka, Suita, Osaka 565–0871
4 Department of Surgery, Osaka Medical Center for Cancer and Cardiovascular Diseases, 1–3–3 Nakamichi, Higashinari‐ku, Osaka 537–0025
5 Division of Clinical Genetics, Biomedical Research Center, Osaka University Medical School, 2–2 Yamadaoka, Suita, Osaka 565–0871; Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4–6–1 Shirokanedai, Minato‐ku, Tokyo 108–8639