Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

CanVIG-UK propose a framework for the classification of variants of reduced penetrance in high-penetrance genes. These principles, although developed for cancer susceptibility genes, are potentially applicable to other clinical contexts.

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Publication Details

Journal
Genetics in Medicine
Published
2024-10-24
DOI
https://doi.org/10.1016/j.gim.2024.101305
Citations
8
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
4.40

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article

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Trudi McDevitt, Sheila Palmer-Smith, Helen Hanson, Sophie Allen et al.
8 citations
Genetics in Medicine
BRCA gene mutations in cancer
4.40
article

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Trudi McDevitt, Sheila Palmer-Smith, Helen Hanson, Sophie Allen, Clare Turnbull, Rachel Robinson, Judith Pagan, Alice Garrett, Bethan Frugtniet, Jonathan Grant, Alison Callaway, George J. Burghel, Miranda Durkie, Charlie F Rowlands, Terri McVeigh, Joanne Field
article en
8 citations

Abstract

CanVIG-UK propose a framework for the classification of variants of reduced penetrance in high-penetrance genes. These principles, although developed for cancer susceptibility genes, are potentially applicable to other clinical contexts.

Genetics in MedicineVol. 27(2)
Cardiff and Vale University Health Board (GB), Royal Marsden NHS Foundation Trust (GB), Nottingham University Hospitals NHS Trust (GB), Institute of Cancer Research (GB), Leeds Teaching Hospitals NHS Trust (GB), Royal Devon & Exeter NHS Foundation Trust (GB), Western General Hospital (GB), NHS Greater Glasgow and Clyde (GB), University Hospital of Wales (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), Queen Elizabeth University Hospital (GB)
Cancer Research UK
Gender equality
Openalex Percentile: Top 5%
BRCA gene mutations in cancer
4.40
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