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

Article Oncology

Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome

N. Jewel Samadder et al.

Summary: This cohort study found that universal multigene panel testing among patients with solid tumor cancer was associated with an increased detection of heritable variants over the predicted yield of targeted testing based on guidelines. Nearly 30% of patients with high-penetrance variants had modifications in their treatment based on the finding. The uptake of cascade FVT was low despite being offered at no cost.

JAMA ONCOLOGY (2021)

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Article Genetics & Heredity

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

Rebecca Truty et al.

Summary: The study found that splicing variants accounted for a significant portion of variants in the clinical cohort, with most being classified as VUSs. Additionally, RNA analysis could provide supporting evidence for reclassifying splicing VUSs, but the majority of variants were likely to be classified as likely benign.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Oncology

Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer

Konstantinos Agiannitopoulos et al.

Summary: This study investigated the occurrence of splicing variants in genes associated with hereditary cancer and demonstrated the clinical utility of RNA analysis in reclassifying variants from VUS to pathogenic. RNA analysis is essential for proper classification and personalized management of patients with uncharacterized splicing variants.

CANCER GENOMICS & PROTEOMICS (2021)

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Article Oncology