Article
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.
Journal of medical genetics - 1 Nov 2023
Valle Laura, Katz Lior H, Latchford Andrew, Mur Pilar, Moreno Victor, Frayling Ian M, Heald Brandie, Capellá Gabriel
Abstract excerpt
While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi...
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