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Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer

✍ Scribed by Mari Holmberg; Paula Kristo; Robert B. Chadwicks; Jukka-Pekka Mecklin; Heikki Järvinen; Albert de la Chapelle; Minna Nyström-Lahti; Päivi Peltomäki

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
37 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

Worldwide, the DNA mismatch repair genes MSH2 and MLH1 account for a major share and almost equal proportions of hereditary nonpolyposis colorectal cancer (HNPCC). Furthermore, the predisposing mutation usually varies from kindred to kindred. In this study, we screened 29 verified or putative HNPCC kindreds from Finland for mutations in these two genes and found 8 different mutations, 7 in MLH1 and 1 in MSH2, occurring in 13 families. Four of these mutations were novel. Altogether, we have to date studied 81 kindreds for mutations and 12 different mutations in 52 families have been identified, 10 in MLH1 and 2 in MSH2. These data show that Finnish HNPCC kindreds are characterized by the predominant involvement of MLH1 (49/52, 94% of the families) and a high rate of shared mutations (5/12, 42%) offering unique possibilities for mutation screening for both research and diagnostic purposes.

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