CanVIG-UK Resources

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Version 2.0

UKCGG/CStAG statement on reporting practice for variants in "moderate risk" breast cancer susceptibility genes

Previous Versions:

CHEK2: v1.0

Version: v1.0

Date: 08/10/2025

Statement to propose strategies for analysis and reporting of variants in "moderate risk" breast cancer susceptibility genes. **Please note this document supersedes the previous reporting practice statement for variants in CHEK2.**

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UKCGG/CStAG statement on extension of testing undertaken under R444.1 to include PALB2

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Version: v1.2

Version: v1.0

Date: 12/02/2025

Statement to recommend that patients tested under R444.1 receive germline genetic testing of BRCA1, BRCA2 AND PALB2.

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UKCGG/CanVIG framework for germline follow-up of variants picked up through tumour testing

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Version: v1.2

Version: v1.0

Date: 11/06/2025

Statement to document the recommendations of the UKCCG/CStAG for germline follow-up of variants identified through tumour testing or ctDNA sampling.

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Exception Variant reporting list

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Version 1.0

Version: v2.0

Date: 09/10/2025

There are certain genes in which variability in penetrance associated with different variants is such that not all variants will be reported by NHS laboratories/UK practice.

It is not feasible to maintain a formal whitelist of exception variants, but laboratory teams are encouraged to communicate rationale for reporting of non-standard variants via CanVar-UK.

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Other CanVIG-UK variant resources

CanVIG-UK Summary Variant List (live sync)

A summary list of variants previously classified by the CanVIG-UK group or currently in progress. For full consensus classifications, please see CanVar-UK or ClinVar.

Please note; variant review by CanVIG-UK is limited to variants dictated by members as pertinent to the development of cancer variant interpretation guidance. At this time, we do not have the capacity to formally review variants outside this remit.

NDRS Variant Counts - Insertion, Deletion, Duplications

Date: July 2023

Spreadsheet of insertion, deletion, duplication and insertion-deletion variants returned by NDRS as part of UK clinical laboratory data collection. Includes key colorectal panel genes as well as BRCA1/BRCA2.

DDX41 National Data Collection Sheet

Information regarding DDX41 variants observed in the UK, submitted by UK laboratories. Made available on behalf of the DDX41 working group.

VIDEO: Using Epidemiological Multifactorial Analysis Data for Variant Interpretation

Date: October 2023

A demonstration video which describes how to use data from Epidemiological Multifactorial Analysis Studies as part of variant interpretation, per current CanVIG_UK guidance.