Associated Papers
The Temozolomide Mutational Signature: Mechanisms, Clinical Implications, and Therapeutic Opportunities in Primary Brain Tumor Management.
Yaacov A et al.
Cells, 2025
Mismatch Repair as a Dynamic and Clinically Actionable Vulnerability in Cancer.
Piumatti E et al.
Cancer Research, 2025
Certain pMMR colorectal cancer patients should undergo additional MSI-PCR testing to reduce the risk of misdiagnosing MSI-H and Lynch syndrome.
Huang J et al.
Bmc Cancer, 2025
DNA repair-dependent immunogenic liabilities in colorectal cancer: opportunities from errors.
Amodio V et al.
British Journal of Cancer, 2024
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Rise of oligodendroglioma hypermutator phenotype from a subclone harboring TP53 mutation after TMZ treatment.
Higuchi F et al.
Brain Tumor Pathology, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Identifying predictors of glioma evolution from longitudinal sequencing.
Mu Q et al.
Science Translational Medicine, 2023
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
AlHarbi M et al.
Oncotarget, 2023
EANO guideline on rational molecular testing of gliomas, glioneuronal, and neuronal tumors in adults for targeted therapy selection.
Capper D et al.
Neuro-oncology, 2023
Pan-cancer clinical impact of latent drivers from double mutations.
Yavuz BR et al.
Communications Biology, 2023
Genetic and pharmacological modulation of DNA mismatch repair heterogeneous tumors promotes immune surveillance.
Amodio V et al.
Cancer Cell, 2023
Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers.
Lim WC et al.
Frontiers in Immunology, 2023
Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.
Crisafulli G et al.
Cancer Discovery, 2022
Importance of Early Next-Generation Sequencing in Microsatellite Unstable Colon Cancer With a High Tumor Mutation Burden.
Ashish S et al.
Cureus, 2022
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.
Hechtman JF et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Mechanisms and therapeutic implications of hypermutation in gliomas.
Touat M et al.
Nature, 2020
Spontaneous mutations in the single TTN gene represent high tumor mutation burden.
Oh JH et al.
Npj Genomic Medicine, 2020
Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients.
Ikenoue T et al.
Journal of Human Genetics, 2019
Double somatic mutations in mismatch repair genes are frequent in colorectal cancer after Hodgkin's lymphoma treatment.
Rigter LS et al.
Gut, 2018
Inactivation of DNA repair triggers neoantigen generation and impairs tumour growth.
Germano G et al.
Nature, 2017
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Ashktorab H et al.
Oncotarget, 2017
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Houlleberghs H et al.
Plos Genetics, 2017
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Erson-Omay EZ et al.
Genome Medicine, 2017
Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.
Xie C et al.
Molecular and Clinical Oncology, 2016
Clinical response to everolimus in a patient with Hodgkin's lymphoma harboring a TSC2 mutation.
Perini GF et al.
Blood Cancer Journal, 2016
Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendroglioma contribute to temozolomide resistance independently of MGMT promoter methylation.
Nguyen SA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H et al.
Journal of Biomedical Science, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).
Geng H et al.
The Journal of Biological Chemistry, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
MSH6 mutations arise in glioblastomas during temozolomide therapy and mediate temozolomide resistance.
Yip S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
Berends MJ et al.
American Journal of Human Genetics, 2002
Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Nasrallah MP et al.
Academic Pathology, 0
Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.
Ji J et al.
Neuro-oncology Advances, 0
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0