Journal article
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
JM Chan, M Clendenning, S Joseland, P Georgeson, K Mahmood, R Walker, J Como, JE Joo, S Preston, RA Hutchinson, BJ Pope, A Metz, C Beard, R Purvis, J Arnold, V Vijay, G Konycheva, N Atkinson, S Parry, MA Jenkins Show all
Familial Cancer | SPRINGER | Published : 2022
Abstract
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..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
MAJ is an NHMRC Senior Research Fellow. DDB is supported by a NHMRC Investigator Grant (GNT1194896) and the University of Melbourne Dame Kate Campbell Fellowship. Funding from the University of Melbourne Research at Melbourne Accelerator Program (R@MAP) supported the design and conduct of the study, collection, management, analysis and interpretation of data.