Marie-Charlotte Villy, Julien Masliah-Planchon, Anne Schnitzler, Hélène Delhomelle, Bruno Buecher, Mathilde Filser, Kevin Merchadou, Lisa Golmard, Samia Melaabi, Sophie Vacher, Maud Blanluet, Voreak Suybeng, Carole Corsini, Marion Dhooge, Nadim Hamzaoui, Solenne Farelly, Amal Ait Omar, Robert Benamouzig, Vincent Caumette, Michel Bahuau, Joël Cucherousset, Yves Allory, Dominique Stoppa-Lyonnet, Ivan Bieche, Chrystelle Colas
BACKGROUND: The MSH3 gene is part of the DNA mismatch repair system, but has never been shown to be involved in Lynch syndrome. A first report of four patients from two families, bearing biallelic MSH3 germline variants, with a phenotype of attenuated colorectal adenomatous polyposis raised the question of its involvement in hereditary cancer predisposition. The patients' tumours exhibited elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), a hallmark of MSH3 deficiency...
July 4, 2023: Journal of Medical Genetics