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KMID : 0624620100430100693
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BMB Reports
2010 Volume.43 No. 10 p.693 ~ p.697
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Three novel germline mutations in MLH1 and MSH2 in families with Lynch syndrome living on Jeju island, Korea
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Kim Young-Mee
Choe Chang-Gyu
Cho Somi-Kim
Jung In-Ho
Chang Won-Young
Cho Moon-Jae
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Abstract
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Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed with colorectal cancer and had subsequently undergone surgery. Five Lynch syndrome patients carried germline mutations in MLH1 or MSH2. Two of these were identified as known mutations in MLH1: deletion of exon 10 and a point mutation (V384D). The remaining three patients exhibited novel mutations: a duplication (937_942dupGAAGTT) in MLH1; deletion of exons 8, 9, and 10; and a point mutation in MLH1 (F396I) combined with multiple missense mutations in MSH2 (D295G, K808E, Q855P, and I884T). The findings underline the importance of efficient pre-screening of conspicuous cases.
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KEYWORD
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Germline mutation, HNPCC, Lynch syndrome, MLH1, MSH2
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