Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Many suspected Lynch Syndrome (sLS) patients who lack mismatch repair (MMR) germline gene variants and MLH1 or MSH2 hypermethylation are currently explained by somatic MMR gene variants or, occasionally, by germline POLE variants. To further investigate unexplained sLS patients, we analyzed leukocyt...

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Veröffentlicht in:	European journal of human genetics : EJHG 2016-07, Vol.24 (7), p.1089-1092
Hauptverfasser:	Jansen, Anne Ml, van Wezel, Tom, van den Akker, Brendy Ewm, Ventayol Garcia, Marina, Ruano, Dina, Tops, Carli Mj, Wagner, Anja, Letteboer, Tom Gw, Gómez-García, Encarna B, Devilee, Peter, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Catalytic Domain Clonal Evolution Colorectal cancer Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Colorectal Neoplasms, Hereditary Nonpolyposis - pathology Deoxyribonucleic acid DNA DNA Mismatch Repair DNA polymerase DNA Polymerase II - chemistry DNA Polymerase II - genetics DNA Polymerase III - chemistry DNA Polymerase III - genetics DNA sequencing Editing Endometrial cancer Exonuclease Female Genes Genetic testing Genetics Genomic Instability Germ-Line Mutation Humans Licenses Male Microsatellite instability Microsatellite Repeats Middle Aged Mismatch repair MLH1 protein MSH2 protein Mutation MutL Protein Homolog 1 - genetics MutS Homolog 2 Protein - genetics Phenotypes Poly-ADP-Ribose Binding Proteins Proofreading Short Report Tumors
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