MSH3: a confirmed predisposing gene for adenomatous polyposis

Conclusion
This report lends further credence to biallelic MSH3 germline pathogenic variants being involved in colorectal and duodenal adenomatous polyposis. Large-scale studies may help clarify the tumour spectrum and associated risks. Ascertainment of EMAST may help with the interpretation of variants of unknown significance. We recommend adding MSH3 to dedicated diagnostic gene panels.

Source: Journal of Medical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Villy, M.-C., Masliah-Planchon, J., Schnitzler, A., Delhomelle, H., Buecher, B., Filser, M., Merchadou, K., Golmard, L., Melaabi, S., Vacher, S., Blanluet, M., Suybeng, V., Corsini, C., Dhooge, M., Hamzaoui, N., Farelly, S., Ait Omar, A., Benamouzig, R., Tags: Cancer genetics Source Type: research