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

Heleen M van der Klift; Arjen R. Mensenkamp; Mark Drost; Elsa C. Bik; Yvonne J Vos; Hans J. J. P. Gille; Bert E. J. W. Redeker; Yvonne Tiersma; Jose B. M. Zonneveld; Encarna Gomez Garcia; Tom G W Letteboer; Maran J. W. Olderode-Berends; Liselotte P. van Hest; Theo A. van Os; Senno Verhoef; Anja Wagner; Christi J. van Asperen; Sanne W Ten Broeke; Frederik J Hes; Niels de Wind; Maartje Nielsen; Peter Devilee; Marjolijn J. L. Ligtenberg; Juul T Wijnen; Carli M. J. Tops

doi:10.1002/humu.23052

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

Heleen M van der Klift, Arjen R. Mensenkamp, Mark Drost, Elsa C. Bik, Yvonne J Vos, Hans J. J. P. Gille, Bert E. J. W. Redeker, Yvonne Tiersma, Jose B. M. Zonneveld, Encarna Gomez Garcia, Tom G W Letteboer, Maran J. W. Olderode-Berends, Liselotte P. van Hest, Theo A. van Os, Senno Verhoef, Anja Wagner, Christi J. van Asperen, Sanne W Ten Broeke, Frederik J Hes, Niels de WindMaartje Nielsen, Peter Devilee, Marjolijn J. L. Ligtenberg, Juul T Wijnen, Carli M. J. Tops

Human genetics

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1162-1179
Journal	Human Mutation
Volume	37
Issue number	11
DOIs	https://doi.org/10.1002/humu.23052
Publication status	Published - Nov 2016

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10.1002/humu.23052

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van der Klift, H. M., 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., van Hest, L. P., van Os, T. A., Verhoef, S., Wagner, A., van Asperen, C. J., Ten Broeke, S. W., Hes, F. J., ... Tops, C. M. J. (2016). Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Human Mutation, 37(11), 1162-1179. https://doi.org/10.1002/humu.23052

@article{175e9c0fdec04563b2e7e5fd0c9e5b55,

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

keywords = "PMS2, Lynch syndrome, CMMRD, pseudogenes, missense variants, immunohistochemistry, mismatch repair, MLH1",

author = "{van der Klift}, {Heleen M} and Mensenkamp, {Arjen R.} and Mark Drost and Bik, {Elsa C.} and Vos, {Yvonne J} and Gille, {Hans J. J. P.} and Redeker, {Bert E. J. W.} and Yvonne Tiersma and Zonneveld, {Jose B. M.} and Garcia, {Encarna Gomez} and Letteboer, {Tom G W} and Olderode-Berends, {Maran J. W.} and {van Hest}, {Liselotte P.} and {van Os}, {Theo A.} and Senno Verhoef and Anja Wagner and {van Asperen}, {Christi J.} and {Ten Broeke}, {Sanne W} and Hes, {Frederik J} and {de Wind}, Niels and Maartje Nielsen and Peter Devilee and Ligtenberg, {Marjolijn J. L.} and Wijnen, {Juul T} and Tops, {Carli M. J.}",

year = "2016",

month = nov,

doi = "10.1002/humu.23052",

language = "English",

volume = "37",

pages = "1162--1179",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "11",

}

van der Klift, HM, Mensenkamp, AR, Drost, M, Bik, EC, Vos, YJ, Gille, HJJP, Redeker, BEJW, Tiersma, Y, Zonneveld, JBM, Garcia, EG, Letteboer, TGW, Olderode-Berends, MJW, van Hest, LP, van Os, TA, Verhoef, S, Wagner, A, van Asperen, CJ, Ten Broeke, SW, Hes, FJ, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, MJL, Wijnen, JT & Tops, CMJ 2016, 'Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome', Human Mutation, vol. 37, no. 11, pp. 1162-1179. https://doi.org/10.1002/humu.23052

TY - JOUR

T1 - Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

AU - van der Klift, Heleen M

AU - Mensenkamp, Arjen R.

AU - Drost, Mark

AU - Bik, Elsa C.

AU - Vos, Yvonne J

AU - Gille, Hans J. J. P.

AU - Redeker, Bert E. J. W.

AU - Tiersma, Yvonne

AU - Zonneveld, Jose B. M.

AU - Garcia, Encarna Gomez

AU - Letteboer, Tom G W

AU - Olderode-Berends, Maran J. W.

AU - van Hest, Liselotte P.

AU - van Os, Theo A.

AU - Verhoef, Senno

AU - Wagner, Anja

AU - van Asperen, Christi J.

AU - Ten Broeke, Sanne W

AU - Hes, Frederik J

AU - de Wind, Niels

AU - Nielsen, Maartje

AU - Devilee, Peter

AU - Ligtenberg, Marjolijn J. L.

AU - Wijnen, Juul T

AU - Tops, Carli M. J.

PY - 2016/11

Y1 - 2016/11

KW - PMS2

KW - Lynch syndrome

KW - CMMRD

KW - pseudogenes

KW - missense variants

KW - immunohistochemistry

KW - mismatch repair

KW - MLH1

U2 - 10.1002/humu.23052

DO - 10.1002/humu.23052

M3 - Article

C2 - 27435373

SN - 1059-7794

VL - 37

SP - 1162

EP - 1179

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -