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Genetic alterations in BRCA1 and BRCA2 genes detected in 328 Korean breast cancer patients
| Genetic alteration | BRCA1 | BRCA2 |
|---|---|---|
| Pathogenic variants | 17 | 18 |
| Frameshift | 10 | 8 |
| Nonsense | 7 | 10 |
| Unclassified variants | 33 | 47 |
| 1000 Genomes Phase 3 MAFs in EAS (< 0.02) | 26 | 40 |
| MAF in 328 breast cancer patients (> 0.005) | 7 | 12 |
| Genotyping in controls | 6 | 9 |
MAF, minor allele frequency; EAS, East-Asian population.
