Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Author(s):
Jansen, A.M.L.; Geilenkirchen, M.A.; Wezel, T. van; Jagmohan-Changur, S.C.; Ruano, D.; Klift, H.M. van der; Akker, B.E.W.M. van den; Laros, J.F.J.; Galen, M. van; Wagner, A.; Letteboer, T.G.W.; Gomez-Garcia, E.B.; Tops, C.M.J.; Vasen, H.F.; Devilee, P. (0000-0002-8023-2009); Hes, F.J. (0000-0002-3025-0882); Morreau, H.; Wijnen, J.T. (0000-0003-2805-6922)
Published
2016
Publication type
Article / Letter to editor

Abstract

This is the first study in sLS patients to include the entire genomic sequence of CRC susceptibility genes. An underlying somatic or germline MMR gene defect was identified in ten of 34 sLS patients (29%). In the remaining sLS patients, the underlying genetic defect explaining the MMR deficiency in their tumors might be found outside the genomic regions harboring the MMR and other known CRC susceptibility genes.

Date issued
2016-06-14
Language
English
Publisher
PUBLIC LIBRARY SCIENCE
Is part of
PLoS ONE (2016), No. 6
hdl
1887/117208
doi
10.1371/journal.pone.0157381