rs1801166

rs1801166, also known as c.3949G>C, p.Glu1317Gln and E1317Q, represents a rare variant in the APC gene on chromosome 5. There are conflicting views on whether the minor rs1801166(C) allele increases risk for familial adenomatous polyposis (FAP), a disorder often leading to colorectal cancer. One publication states the presence of this minor allele raises the risk of colon cancer 11 fold; other publications find no increase in risk. Note that normally, APC gene mutations associated with FAP are dominant (and highly penetrant). Given that, the most conservative conclusion would be to say that if it's pathogenic at all, the E1317Q mutation is likely to lead to significantly increased risk primarily in rs1801166(C;C) homozygotes, but it might also be worth suggesting increased screening for heterozygotes anyway, and most especially for any E1317Q carriers with a family history of colon cancer. 23andMe name: i3002485 APC E1317Q is not associated with Colorectal Cancer in a population-based case-control study in Northern Israel. Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy.

C;C

observed in an 18th century hungarian mummy

C;G

Currently listed as either benign or of unknown significance in ClinVar.