Sophie Allen

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.

The paper evaluates how different truthset strategies affect evidence points (EPs) in clinical validation of functional assays across 2,120 gene-truthset-assay combinations.

The paper establishes consensus guidelines for constructing truthsets to validate functional assays in cancer variant interpretation, focusing on missense variants and clinical validation frameworks.

This paper evaluates a streamlined germline genetic testing pathway for breast cancer patients, showing high satisfaction and feasibility while highlighting the need for simplified criteria to improve detection of pathogenic variants.

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

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.

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

The paper analyzes UK Biobank data to assess the association of APC I1307K variant with colorectal cancer risk in Ashkenazi and non-Ashkenazi whites, finding no significant association and highlighting the need for larger studies.

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

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

This study compares digital and in-person genetic counseling for germline testing in breast cancer patients, finding higher uptake with digital information without compromising other outcomes.

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.