Article
Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Sept 2013
Zauber Peter, Marotta Stephen P, Sabbath-Solitare Marlene
Abstract excerpt
APC*E1317Q is a low-penetrance variant of the APC gene suggested as a risk for the development of colorectal adenomas and carcinomas. There is very little in the literature describing the molecular details of APC*E1317Q in tumor tissue. We provide information about the molecular genetics of 3 patients with APC*E1317Q. For 1 patient, we show linkage to a specific APC allele. We further show that loss of...
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