Affiliation: Leiden University Medical Center
Country: The Netherlands
- Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency SyndromeHeleen M van der Klift
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Hum Mutat 37:1162-1179. 2016..Application of universal tumor prescreening methods will however miss some PMS2 germline mutation carriers...
- Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndromeHeleen M van der Klift
Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Hum Mutat 33:1051-5. 2012..Especially large heterozygous insertions will remain unnoticed because of preferential amplification of the smaller wild-type allele in genomic DNA, and are probably underreported in the mutation spectra of autosomal dominant disorders...
- Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patientsHeleen M van der Klift
Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden, The Netherlands
Hum Mutat 31:578-87. 2010..Four of these (21%) are lying in the region with frequent sequence transfer and are missed or called incorrectly as homozygous with several PSV-based mutation detection methods...