Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

Klift, H.M. van der; Mensenkamp, A.R.; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.J.P.; ... ; Tops, C.M.J. (2016)

Article / Letter to editor

• PMS2
• Lynch syndrome
• CMMRD
• pseudogenes
• missense variants
• immunohistochemistry
• mismatch repair
• MLH1

• All authors: Klift, H.M. van der; Mensenkamp, A.R.; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.J.P.; Redeker, B.E.J.W.; Tiersma, Y.; Zonneveld, J.B.M.; Garcia, E.G.; Letteboer, T.G.W.; Olderode-Berends, M.J.W.; Hest, L.P. van; Os, T.A. van; Verhoef, S.; Wagner, A.; Asperen, C.J. van; Broeke, S.W. ten; Hes, F.J.; Wind, N. de; Nielsen, M.; Devilee, P.; Ligtenberg, M.J.L.; Wijnen, J.T.; Tops, C.M.J.
• Date: 2016-11-30
• Journal: Human Mutation
• Volume: 37
• Issue: 11
• Pages: 1162 - 1179
• DOI: doi:10.1002/humu.23052