Collaborator: Moffitt Cancer Center

• BRCA1 frameshift variants leading to extended incorrect protein termini

  April 2, 2026

• Reduced risk BRCA1 and BRCA2 variants: Insight into classification of concordant variants between two commercial laboratories

  The identification and reporting of reduced risk BRCA1 and BRCA2 (RR-BRCA) variants is complex and poses challenges for patient counseling. We sought to compile and compare data for RR-BRCA variants reported by two clinical diagnostic laboratories.

  April 2, 2026

• Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

• Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico

  Abstract Inherited pathogenic variants in genes that confer moderate to high risk of breast cancer may explain up to 50% of familial breast cancer. This study aimed at identifying inherited pathogenic variants in breast cancer cases from Puerto Rico that were not linked to BRCA1 or BRCA2. Forty-eight breast cancer patients that met the clinical criteria for BRCA testing but…