Bethany Torr

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

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.