AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer. Leclerc, J., Beaumont, M., Vibert, R., Pinson, S., Vermaut, C., Flament, C., Lovecchio, T., Delattre, L., Demay, C., Coulet, F., Guillerm, E., Hamzaoui, N., Benusiglio, P. R., Brahimi, A., Cornelis, F., Delhomelle, H., Fert-Ferrer, S., Fournier, B. P. J., Hovnanian, A., Legrand, C., Lortholary, A., Malka, D., Petit, F., Saurin, J., Lejeune, S., Colas, C., & Buisine, M. Genes, Chromosomes and Cancer, December, 2022. _eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.23112
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer [link]Paper  doi  abstract   bibtex   
Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual contribution of this gene to colorectal cancer (CRC) susceptibility. To assess the clinical relevance for AXIN2 testing in patients suspected of genetic predisposition to CRC, we collected clinical and molecular data from the French Oncogenetics laboratories analyzing AXIN2 in this context. Between 2004 and June 2020, 10 different pathogenic/likely pathogenic AXIN2 variants were identified in 11 unrelated individuals. Eight variants were from a consecutive series of 3322 patients, which represents a frequency of 0.24%. However, loss-of-function AXIN2 variants were strongly associated with genetic predisposition to CRC as compared with controls (odds ratio: 11.89, 95% confidence interval: 5.103–28.93). Most of the variants were predicted to produce an AXIN2 protein devoid of the SMAD3-binding and DIX domains, but preserving the β-catenin-binding domain. Ninety-one percent of the AXIN2 variant carriers who underwent colonoscopy had adenomatous polyposis. Forty percent of the variant carriers developed colorectal or/and other digestive cancer. Multiple tooth agenesis was present in at least 60% of them. Our report provides further evidence for a role of AXIN2 in CRC susceptibility, arguing for AXIN2 testing in patients with colorectal adenomatous polyposis or cancer.
@article{leclerc_axin2_2022,
	title = {{AXIN2} germline testing in a {French} cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer},
	volume = {n/a},
	issn = {1098-2264},
	url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/gcc.23112},
	doi = {10.1002/gcc.23112},
	abstract = {Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual contribution of this gene to colorectal cancer (CRC) susceptibility. To assess the clinical relevance for AXIN2 testing in patients suspected of genetic predisposition to CRC, we collected clinical and molecular data from the French Oncogenetics laboratories analyzing AXIN2 in this context. Between 2004 and June 2020, 10 different pathogenic/likely pathogenic AXIN2 variants were identified in 11 unrelated individuals. Eight variants were from a consecutive series of 3322 patients, which represents a frequency of 0.24\%. However, loss-of-function AXIN2 variants were strongly associated with genetic predisposition to CRC as compared with controls (odds ratio: 11.89, 95\% confidence interval: 5.103–28.93). Most of the variants were predicted to produce an AXIN2 protein devoid of the SMAD3-binding and DIX domains, but preserving the β-catenin-binding domain. Ninety-one percent of the AXIN2 variant carriers who underwent colonoscopy had adenomatous polyposis. Forty percent of the variant carriers developed colorectal or/and other digestive cancer. Multiple tooth agenesis was present in at least 60\% of them. Our report provides further evidence for a role of AXIN2 in CRC susceptibility, arguing for AXIN2 testing in patients with colorectal adenomatous polyposis or cancer.},
	language = {en},
	number = {n/a},
	urldate = {2023-01-18},
	journal = {Genes, Chromosomes and Cancer},
	author = {Leclerc, Julie and Beaumont, Marie and Vibert, Roseline and Pinson, Stéphane and Vermaut, Catherine and Flament, Cathy and Lovecchio, Tonio and Delattre, Lucie and Demay, Christophe and Coulet, Florence and Guillerm, Erell and Hamzaoui, Nadim and Benusiglio, Patrick R. and Brahimi, Afane and Cornelis, François and Delhomelle, Hélène and Fert-Ferrer, Sandra and Fournier, Benjamin P. J. and Hovnanian, Alain and Legrand, Clémentine and Lortholary, Alain and Malka, David and Petit, Florence and Saurin, Jean-Christophe and Lejeune, Sophie and Colas, Chrystelle and Buisine, Marie-Pierre},
	month = dec,
	year = {2022},
	note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1002/gcc.23112},
	keywords = {Alamut Visual v2.15},
}
Downloads: 0
About
Documentation
Keywords
Search
Users
Terms and Conditions of Use
Privacy Policy
Sitemap
© BibBase.org 2021