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 for cancer risk reduction and treatment.

Objective

To evaluate whether RGT is associated with improvement in the diagnostic outcome of DGT and in the delivery of personalized cancer risk management for patients with hereditary cancer predisposition.

Design, setting, and participants

Diagnostic study in which patients and/or families with inconclusive variants detected by

SUBMITTER: Karam R 

PROVIDER: S-EPMC6820040 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature