Table 1. Evaluation of the methodological strategy for the detection of BRCA mutations.
| Sample | Gene | Deleterious Mutation | Type of mutationa | Position (aa) | Stop codón position (aa) | Coverage1 | Clinical relevance | BIC reported | Reference |
| Control (+)1 | BRCA1 | c.4065_4068delTCAA | F | 1355 | 1364 | 41 | Yes | Yes | [13], [47]–[49] |
| Control (+)2 | BRCA2 | c.2808_2811delACAA | F | 936 | 958 | 459 | Yes | Yes | [50] |
| Control (+)3 | BRCA2 | c.9382C>T | S | 3128 | 3128 | 485 | Yes | Yes | [51], [52] |
| Control (−)1 | - | None detected | - | - | - | - | - | - | - |
| Control (−)2 | - | None detected | - | - | - | - | - | - | - |
1
Number of reads per nucleotide.
a
Types of mutations: F: frameshift; S: stop.