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

by Ventayol Garcia, Marina , Devilee, Peter , Gómez-García, Encarna B , van Wezel, Tom , van den Akker, Brendy EWM , Ruano, Dina , Morreau, Hans , Jansen, Anne ML , Letteboer, Tom GW , Wijnen, Juul T , Tops, Carli MJ , Hes, Frederik J , Wagner, Anja

in 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

2016

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

2016

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

2016

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Journal Article

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

Ventayol Garcia, Marina,

Devilee, Peter,

Gómez-García, Encarna B,

van Wezel, Tom,

van den Akker, Brendy EWM,

Ruano, Dina,

Morreau, Hans,

Jansen, Anne ML,

Letteboer, Tom GW,

Wijnen, Juul T,

Tops, Carli MJ,

Hes, Frederik J,

Wagner, Anja

2016

Overview

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 leukocyte and tumor DNA of 62 sLS patients using gene panel sequencing including the POLE, POLD1 and MMR genes. Forty tumors showed either one, two or more somatic MMR variants predicted to affect function. Nine sLS tumors showed a likely ultramutated phenotype and were found to carry germline (n=2) or somatic variants (n=7) in the POLE/POLD1 exonuclease domain (EDM). Six of these POLE/POLD1-EDM mutated tumors also carried somatic MMR variants. Our findings suggest that faulty proofreading may result in loss of MMR and thereby in microsatellite instability.

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Publisher

Nature Publishing Group

Subject

/ Aged

/ Colorectal Neoplasms, Hereditary Nonpolyposis - genetics

/ Colorectal Neoplasms, Hereditary Nonpolyposis - pathology