CHEK2: CanVIG-UK Gene-Specific Guidance

CanVIG-UK review of CHEK2 07/10/2025: Consensus to use relevant recommendations from the ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.4.0 (available at: https://clinicalgenome.org/affiliation/50039/).Additional points of specification are given below where applicable.Additional Note: For diagnostic analysis and reporting for cancer indications, the scope of this test indication currently includes canonical protein truncating variants and CHEK2 c.349A>G p.(Arg117Gly).

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-10-07
DOI
https://doi.org/10.5281/zenodo.15021529
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

CHEK2: CanVIG-UK Gene-Specific Guidance

Zenodo (CERN European Organization for Nuclear Research)
BRCA gene mutations in cancer
article

CHEK2: CanVIG-UK Gene-Specific Guidance

article en

Abstract

CanVIG-UK review of CHEK2 07/10/2025: Consensus to use relevant recommendations from the ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.4.0 (available at: https://clinicalgenome.org/affiliation/50039/).Additional points of specification are given below where applicable.Additional Note: For diagnostic analysis and reporting for cancer indications, the scope of this test indication currently includes canonical protein truncating variants and CHEK2 c.349A>G p.(Arg117Gly).

Zenodo (CERN European Organization for Nuclear Research)
Cardiff and Vale University Health Board (GB), Royal Marsden NHS Foundation Trust (GB), Nottingham University Hospitals NHS Trust (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), St George’s University Hospitals NHS Foundation Trust (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), Genomics England (GB), Birmingham Women’s and Children’s NHS Foundation Trust (GB), Queen Elizabeth University Hospital (GB)
Openalex Percentile: Top 54%
BRCA gene mutations in cancer
DOIOpen Access PDFOpenAlex
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CHEK2: CanVIG-UK Gene-Specific Guidance · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS