Collaborator: Huntsman Cancer Institute

• Pathogenic variants in cancer susceptibility genes predispose to Ductal Carcinoma In situ of the breast

• A case of de novo Lynch syndrome with germline mosaicism

  April 2, 2026

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

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

• Genetic basis of Cowden syndrome and its implications for clinical practice and risk management

• 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…

• Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone

  * Concurrent RNA and DNA genetic testing increases the clinical impact of Lynch syndrome testing. * In this pilot study, RNA sequencing contributed to a 14% relative increase in diagnostic yield for Lynch syndrome overall; this increase was even higher among families with 3 or more individuals with Lynch spectrum cancers. * RNA sequencing also…

  April 2, 2026

• Germline mutations in cancer predisposition genes in patients with invasive lobular carcinoma of the breast

  April 2, 2026

• Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

  Abstract Purpose Genetic testing of individuals often results in identification of genomic variants of unknown significance (VUS). Multiple lines of evidence are used to help determine the clinical significance of these variants. Methods We analyzed ~138,000 individuals tested by multigene panel testing (MGPT). We used logistic regression to predict carrier status based on personal and…

• Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes

  Abstract Purpose To compare the classification of genetic variants reported on tumor genomic profiling (TGP) reports with germline classifications on clinical test results and ClinVar. Results will help to inform germline testing discussions and decisions in patients with tumor variants in genes that are relevant to hereditary cancer risk. Patients and Methods This study compared…