Clinical Performance of International and Korean Genetic Testing Criteria for Hereditary Breast Cancer

Sensitivity/specificity comparison of international vs Korean genetic testing criteria for BRCA1/2 in a breast cancer population

This study compares the clinical performance of international (ASCO-SSO, NCCN, ASBrS) and Korean genetic testing criteria for identifying BRCA1/2 pathogenic variants in breast cancer patients. Expanded international criteria, especially ASBrS criteria (any breast cancer patient), show significantly higher sensitivity than the more restrictive Korean criteria. Expanding testing toward a non-selective approach identifies additional carriers, justifying a revision of Korean national recommendations.

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

The global trend is toward expanding BRCA testing to universal screening of all breast cancer patients, and this study provides performance data to justify this evolution in Korea. The argument generalizes to all countries with still-restrictive recommendations based on strict family history criteria.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 8/10