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

Research output: Contribution to journalArticleAcademicpeer-review

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

Keywords

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

Cite this

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