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遺伝性非ポリポーシス大腸癌（HNPCC）の発癌に関与するE2F-4遺伝子の変異：池田雅彦^１, 松原長秀^１, 木村彰方^３, 馬場正三^４, 田中紀章^１, 清水憲二^２（^１岡山大・外, ^２岡山大・病態遺伝子, ^３東京医歯大・難治研, ^４浜松医大・外）

Mutation of E2F-4 in hereditary non-polyposis colorectal cancer: Masahiko IKEDA^１, Nagahide MATSUBARA^１, Akinori KIMURA³, Shozo BABA⁴, Noriaki TANAKA^１, Kenji SHIMIZU²　(^１Dept. of Surg., ² Molecular Genetics, Okayama Univ. Med School, ³ Div. of Adult Diseases, Med. Res. Institute, Tokyo Med. & Dent. Univ., ⁴Hamamatsu Univ. School of Med.)

Defects in mismatch-repair are known to cause microsatellite instability (MI) in HNPCC as well as sporadic colorectal cancer (CRC). We previoiusly reported that E2F-4 had frequent tumor-specific mutations at coding microsatellite in a subset of human sporadic CRC with MI. In this study, we detected mutations of E2F-4 in HNPCC at the same positions. Frequency of E2F-4 mutation in HNPCC was relatively lower and the pattern of mutations in HNPCC were different from that in sporadic CRC with MI. Most of the E2F-4 mutations in sporadic CRC with MI were accompanied by mutations of MSH3 and/or MSH6. However, no mutation of both MSH3 and MSH6 were detected in HNPCC. These results may indicate the presence of a preferabe cascade of mutational events from MSH3 and/or MSH6 to E2F-4 in sporadic CRC with MI but may not in HNPCC during its progression.