Article
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
Human molecular genetics - 1 Jun 1996
Nyström-Lahti M, Wu Y, Moisio A L, Hofstra R M, Osinga J, Mecklin J P, Järvinen H J, Leisti J, Buys C H, de la Chapelle A, Peltomäki P
Abstract excerpt
The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for germline mutations in these genes in 35 HNPCC kindreds fulfilling the Amsterdam diagnostic criteria and in a further 20 kindreds with an average of four affected members per family but not meeting the formal criteria. We first screened for truncations by...
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