Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
James M Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Romy Walker, Julia Como, Jihoon E Joo, Susan Preston, Ryan A Hutchinson, Bernard J Pope, Andrew Metz, Catherine Beard, Rebecca Purvis, Julie Arnold, Varnika Vijay, Galina Konycheva, Nathan Atkinson, Susan Parry, Mark A Jenkins Show all
Fam Cancer | Published : 2021
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 gene variant identified from either clinical multi-gene panel testing (n=2) or from whole genome/exome sequencing (n=2). Variant segregation in relatives and characterisation of tumour tissue were performed where possible. Four different germline pathogenic variants in AXIN2 were ident..View full abstract