Molecular Background of Colorectal Tumors From Patients with Lynch Syndrome Associated With Germline Variants in PMS2

Germline variants in the mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk of developing colorectal cancers (CRCs) that differ from sporadic CRCs in genetic and histologic features. It has been a challenge to study CRCs associated with PMS2 variants (PMS2-associated CRCs) because these develop less frequently and in patients of older ages than colorectal tumors with variants in the other mismatch repair genes.

Source: Gastroenterology - May 11, 2018 Category: Gastroenterology Authors: S.W. ten Broeke, T.C. van Bavel, A.M.L. Jansen, E. G ómez-García, F.J. Hes, L.P. van Hest, T.G.W. Letteboer, M.J.W. Olderode-Berends, D. Ruano, L. Spruijt, M. Suerink, C.M. Tops, R. van Eijk, H. Morreau, T. van Wezel, M. Nielsen Source Type: research