Showing posts with label APC. Show all posts
Showing posts with label APC. Show all posts
Friday, May 14, 2010
abstract and free full text: How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
The three mutations analyzed were MSH2*1906 G->C, APC*I1307K, and BRCA2*6174delT.
"Mutation age estimates (averages):
16.8 generations for MSH2
106 generations for I1037K
90 generations for 6174delT
Tuesday, April 27, 2010
Candidate gene association studies: successes and failures
Abstract
"Epidemiologic studies of twins indicate that 20-40% of common tumors such as breast, colorectal, and prostate cancers are inherited. However, the effect of high penetrance tumor susceptibility genes such as APC, BRCA1, BRAC2, MSH1, MLH2 and MSH6 only accounts for a small fraction of these cancers. Low to moderate penetrance tumor susceptibility genes likely account for the large remaining proportion of familial cancer risk...."
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