Collaborator: QIMR Berghofer Medical Research Institute

• Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management

• Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

• Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants

  Presenting Author: Matthew J. Varga, PhD Take home points:  Structural information is a useful tool in variant interpretation but until recently has not been available in a user-friendly format for non-experts. This work obtained structural data from accessible sources and compared outputs to rich functional datasets for BRCA1 and TP53. Results show that using these…

  April 2, 2026

• Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

• ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

• CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources

• Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

• Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

• Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

• An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy