An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

ABSTRACT: Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment with poly ADP ribose polymerase (PARP) inhibitors. Tumor BRCA1/2 testing is more challenging than germline testing as the majority of samples are formalin-fixed paraffin embedded (FFPE), the tumor genome is complex, and the allelic fraction of somatic variants can be low. We collaborated with 10 laboratories testing BRCA1/2 in tumors to compare different approaches to identify clinically important variants within FFPE tumor DNA samples. This was not a proficiency study but an inter-laboratory comparison to identify common issues. Each laboratory received the same tumor DNA samples ranging in genotype, quantity, quality, and variant allele frequency (VAF). Each laboratory performed their preferred ne

SUBMITTER: Ellison G 

PROVIDER: S-EPMC5838520 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature