Article
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Familial cancer - 1 Oct 2022
Chan James M, Clendenning Mark, Joseland Sharelle, Georgeson Peter, Mahmood Khalid, Walker Romy, Como Julia, Joo Jihoon E, Preston Susan, Hutchinson Ryan A, Pope Bernard J, Metz Andrew, Beard Catherine, Purvis Rebecca, Arnold Julie, Vijay Varnika, Konycheva Galina, Atkinson Nathan, Parry Susan, Jenkins Mark A, Macrae Finlay A, Rosty Christophe, Winship Ingrid M, Buchanan Daniel D
Abstract excerpt
Germline loss-of-function variants in AXIN2 are associated with oligodontia and ectodermal dysplasia. The association between colorectal cancer (CRC) and colonic polyposis is less clear despite this gene now being included in multi-gene panels for CRC. Study participants were people with genetically unexplained colonic polyposis recruited to the Genetics of Colonic Polyposis Study who had a rare germline AXIN2...
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