MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer.
作者： Shannon A. Kuismanen , Henrik Grönberg , Jukka-Pekka Mecklin , Robert B. Chadwick , Julie E. Meek
DOI:
关键词: Genetics 、 Mutation 、 Carcinogenesis 、 MLH1 、 Frameshift mutation 、 MSH2 、 Biology 、 MSH6 、 Exon 、 MSH3
摘要: A set of 90 nonpolypotic colon cancer families in which germ-line mutations MSH2 and MLH1 had been excluded were screened for two additional DNA mismatch repair genes, MSH6 MSH3 . Kindreds fulfilling not the Amsterdam I criteria, showing early late onset colorectal (and other) cancers, having microsatellite stable unstable tumors included. Two partly parallel approaches used: genetic linkage analysis (19 large families) protein truncation test (85, mostly smaller, families). Whereas was involved any family, a Amsterdam-positive, late-onset family showed novel mutation (deletion CT at nucleotide 3052 exon 4). The identified through (multipoint lod score 2.4) subsequent sequencing Furthermore, entire gene sequenced by with frameshift (C)8 tract tumors, previously suggested as predictor mutations; no found. We conclude that involvement is rare other genes are likely to account majority -, -mutation negative cancer.
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