Validation of a Compact and Self-Contained Pyrosequencing Platform for Clinical Screening of <i>RAS</i> Mutations in Thyroid Cancers.

ABSTRACT: Background and Objectives: Accurate screening of clinically significant tumor mutations is critical for precision medicine in oncology. This requires genotyping platforms with high accuracy and compatibility with varying DNA yields from challenging sample types. Here, we have validated a new, improved, compact, and self-contained pyrosequencing platform (Pyromark Q48 Autoprep; Q48) for screening N-, K- and H-RAS mutations in thyroid cancers. Methods: A set of 73 thyroid cancer and 16 non-thyroid cancer samples (fine needle aspirates and formalin-fixed paraffin-embedded) with known mutation status of RAS genes were tested using the Q48 platform. Performance parameters such as accuracy, precision, and limit-of-detection were established. Q48 workflow

SUBMITTER: Burkhardt A 

PROVIDER: S-EPMC11817209 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature