CanVIG-UK

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network

CanVIG-UK evaluates the impact of its activities on variant interpretation in cancer susceptibility genes through a survey, showing high utility and usage of its consensus recommendations.

Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls

The paper combines enriched case data with population-based case-control analyses using a likelihood-ratio methodology to classify variants in breast cancer susceptibility genes.

CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genes

CanVar-UK is a web platform that supports collaborative interpretation of germline variants in cancer susceptibility genes by integrating variant data, clinical information, and expert discussions.

Availability of benign missense variant truthsets for validation of functional assays: current status and a novel systematic approach

The paper evaluates the limitations of existing benign missense variant truthsets for MAVEs and proposes a proactive-systematic framework to improve their construction for better functional evidence classification.

Validating data from Multiplex Assays of Variant Effect (MAVEs): A CanVIG-UK National Survey of NHS Clinical Scientists

The paper surveys NHS clinical scientists on their acceptance of MAVE data validation, finding that trusted central bodies are needed for clinical adoption.

The PS4-Likelihood Ratio Calculator: Flexible allocation of evidence weighting for case-control data in variant classification

The paper introduces PS4-LRCalc, a tool that quantitatively assigns evidence for variant classification using case-control data, enabling continuous scoring instead of dichotomous PS4 scoring.