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Lynch syndrome
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DNA mismatch repair
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variants of uncertain significance
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functional analysis-based classification
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Drost, M.
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Wind, N. de
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Trends in distal esophageal and gastroesophageal junction cancer care
Recurrent disease after esophageal cancer surgery
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome
Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
Contribution of mRNA splicing to mismatch repair gene sequence variant interpretation
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome
Adjuvant Treatment for POLE Proofreading Domain-Mutant Cancers: Sensitivity to Radiotherapy, Chemotherapy, and Nucleoside Analogues
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
DNA mismatch repair: from biophysics to bedside
Career satisfaction of postdoctoral researchers in the relation to their expectations for the future
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity
Development of in vitro and in vivo functional assays to enable diagnosis of Variants of Uncertain Significance in the common cancer predisposition Lynch syndrome
Multivariate analysis of MLH1 c.1664T > C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity
Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene
LOFAR: The LOw-Frequency ARray
Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome
LOFAR: The LOw-Frequency ARray
Functional characterization of MLH1 missense variants identified in lynch syndrome patients
Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants
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