Retrospective post-implementation evaluation of an eight-variant BRCA1/2 PCR panel using routine referral data and two Ukrainian NGS cohorts

BRCA1/2

PCR detection of eight targeted BRCA1/BRCA2 variants

Commercial BRCA1/2 PCR panels, which interrogate only a few variants, remain in use where comprehensive sequencing is constrained. This retrospective study covers 3,440 women consecutively tested with a commercial eight-variant panel between January 2022 and August 2025, and compares panel targets with two Ukrainian NGS cohorts. A reproducibly positive result was obtained in 100 women (2.91%): 6.66% when the referral documented clinical or familial information, versus 0.97% without it (adjusted OR 7.35; 95% CI 4.55-11.87). In the NGS cohorts, the variant in BRCA1/2 carriers matched a panel target in 49.1% and 50.0% of cases, a measure of target overlap rather than clinical sensitivity.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

About half of carriers identified by NGS have a variant outside the panel targets: a negative PCR panel therefore cannot exclude BRCA1/2 predisposition, and full gene sequencing remains the reference. The strong association between documented referral information and positivity argues for well-documented requests, but it reflects patient selection as much as the test itself. Best read as an evaluation of local practice rather than a validation of the panel.

Analysis by Dr Thibaut Benquey