Collaborator: University of Kansas Cancer Center

• BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

• Beyond familial adenomatous polyposis: using genotype-phenotype correlations to discern germline versus somatic status for APC whole gene deletions among 860,000 tests

  Presenting Author: Katherine L. Belshe, MS, CGC from the University of Kansas Take home points:  APC whole-gene deletions are incidentally identified in pan-cancer-panel-tested individuals but are most often reported as mosaic. Mosaic APC whole-gene deletions were older than heterozygous individuals and had a cancer history that was distinct from FAP. Breakpoint analysis revealed that the…

  April 2, 2026

• Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

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

• Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C

• 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…