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 & 5 others Maartje Nielsen, Peter Devilee, Marjolijn J. L. Ligtenberg, Juul T Wijnen, Carli M. J. Tops

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1162-1179
JournalHuman Mutation
Volume37
Issue number11
DOIs
Publication statusPublished - Nov 2016

Cite this

van der Klift, Heleen M ; Mensenkamp, Arjen R. ; Drost, Mark ; Bik, Elsa C. ; Vos, Yvonne J ; Gille, Hans J. J. P. ; Redeker, Bert E. J. W. ; Tiersma, Yvonne ; Zonneveld, Jose B. M. ; Garcia, Encarna Gomez ; Letteboer, Tom G W ; Olderode-Berends, Maran J. W. ; van Hest, Liselotte P. ; van Os, Theo A. ; Verhoef, Senno ; Wagner, Anja ; van Asperen, Christi J. ; Ten Broeke, Sanne W ; Hes, Frederik J ; de Wind, Niels ; Nielsen, Maartje ; Devilee, Peter ; Ligtenberg, Marjolijn J. L. ; Wijnen, Juul T ; Tops, Carli M. J. / Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. In: Human Mutation. 2016 ; Vol. 37, No. 11. pp. 1162-1179.
@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 = "11",
doi = "10.1002/humu.23052",
language = "English",
volume = "37",
pages = "1162--1179",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
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}

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

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. / van der Klift, Heleen M; Mensenkamp, Arjen R.; Drost, Mark; Bik, Elsa C.; Vos, Yvonne J; Gille, Hans J. J. P.; Redeker, Bert E. J. W.; Tiersma, Yvonne; Zonneveld, Jose B. M.; Garcia, Encarna Gomez; Letteboer, Tom G W; Olderode-Berends, Maran J. W.; van Hest, Liselotte P.; van Os, Theo A.; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J.; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J. L.; Wijnen, Juul T; Tops, Carli M. J.

In: Human Mutation, Vol. 37, No. 11, 11.2016, p. 1162-1179.

Research output: Contribution to journalArticleAcademicpeer-review

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

VL - 37

SP - 1162

EP - 1179

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 11

ER -