AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

doi:10.1002/gcc.23112

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AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Genes, chromosomes & cancer - 1 Apr 2023

Leclerc Julie, Beaumont Marie, Vibert Roseline, Pinson Stéphane, Vermaut Catherine, Flament Cathy, Lovecchio Tonio, Delattre Lucie, Demay Christophe, Coulet Florence, Guillerm Erell, Hamzaoui Nadim, Benusiglio Patrick R, Brahimi Afane, Cornelis François, Delhomelle Hélène, Fert-Ferrer Sandra, Fournier Benjamin P J, Hovnanian Alain, Legrand Clémentine, Lortholary Alain, Malka David, Petit Florence, Saurin Jean-Christophe, Lejeune Sophie, Colas Chrystelle, Buisine Marie-Pierre

Abstract excerpt

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...

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Identifiers

PMID: 36502525
DOI: 10.1002/gcc.23112
PMCID: PMC10107344

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