Collaborator: University of California, Irvine

• Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

• Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

• Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

• Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer

• Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

• Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers

• NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

  August 3, 2026

• Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

• 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…

• Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

  Abstract Importance Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-accepted clinical practice; however, the interpretation of DNA variation remains a challenge for laboratories and clinicians. Adding RNA genetic testing (RGT) enhances DGT by clarifying the clinical actionability of hereditary cancer gene variants, thus improving clinicians’ ability to accurately apply strategies…