Collaborator: Dana Farber Cancer Institute

• Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception

  August 3, 2026

• Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes

• Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition

• Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2

• Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

• A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

• Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

• Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment

• Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

• Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

  Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a…