MMR: CanVIG-UK Gene-Specific Guidance

CanVIG-UK review of MMR genes, 07/10/2025 (MLH1/MSH2/MSH6/PMS2): Consensus to use relevant recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1, MSH2, MSH6, and PMS2 Version 1.0.0 (available at: https://clinicalgenome.org/affiliation/50099).Additional points of specification are given below where applicable. Please defer to the respective gene VCEP guidelines for evidence combination rules

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-02-04
DOI
https://doi.org/10.5281/zenodo.15021539
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

MMR: CanVIG-UK Gene-Specific Guidance

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

MMR: CanVIG-UK Gene-Specific Guidance

article en

Abstract

CanVIG-UK review of MMR genes, 07/10/2025 (MLH1/MSH2/MSH6/PMS2): Consensus to use relevant recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1, MSH2, MSH6, and PMS2 Version 1.0.0 (available at: https://clinicalgenome.org/affiliation/50099).Additional points of specification are given below where applicable. Please defer to the respective gene VCEP guidelines for evidence combination rules

Zenodo (CERN European Organization for Nuclear Research)
Belfast Health and Social Care Trust (GB), Cardiff and Vale University Health Board (GB), North Bristol NHS Trust (GB), Royal Marsden NHS Foundation Trust (GB), Nottingham University Hospitals NHS Trust (GB), University of Ulster (GB), Institute of Cancer Research (GB), University of Exeter (GB), Leeds Teaching Hospitals NHS Trust (GB), Royal Devon & Exeter NHS Foundation Trust (GB), Western General Hospital (GB), NHS Greater Glasgow and Clyde (GB), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), St George’s University Hospitals NHS Foundation Trust (GB), Southmead Hospital (GB), University Hospital Southampton NHS Foundation Trust (GB), University of Manchester (GB), Children's Health Ireland at Crumlin (IE), Sheffield Children's NHS Foundation Trust (GB), Royal Victoria Hospital (GB), Genomics England (GB), Birmingham Women’s and Children’s NHS Foundation Trust (GB), Queen Elizabeth University Hospital (GB)
Openalex Percentile: Top 100%
Genomics and Rare Diseases
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