Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation

Abstract

Next generation sequencing (NGS) is a widespread molecular biology method integrated into clinical practice to detect genetic variants, for diagnostic and prognostic purposes. The scheduled external quality assessments (EQA) is integral part of clinical molecular laboratory quality assurance. The EQA provides an efficient system to compare analytic test performances among different laboratories, which is essential to evaluate consistency of molecular test. EQA failures demands targeted corrective action plans. In this context, the complexity of the NGS techniques requires careful and continuous quality control procedures. We report a tumor BRCA1/2 (tBRCA) testing benchmark discrepancy provided by the European Molecular Genetics Quality Network in our laboratory during a round of EQA for somatic mutation testing of BRCA genes in relation to ovarian cancer. The critical analysis emerging from the tBRCA EQA is presented. We underline that harmonization processes are still required for the EQA in the molecular biology field, especially if applied to the evaluation of methods characterized by high complexity.

BRCAtesting on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation

“…In the case of BRCA1 , the variability factor can be attributed to the high degree of homology with the ΨBRCA1 pseudogene that contains the duplicated region of BRCA1 exon 1–2. Second, in the amplicon-based approach, the “overlapping degree” of target amplicons could be the reason for the observed greater data variability, as we previously highlighted 23. However, the difference in coverage level does not affect the sequencing data.…”