Table 4. Detection of BRCA deleterious mutations in patients.
Sample | Gene | Mutation | Type of mutation | Position (aa) | Stop position (aa) | Coverage1 | Clinical relevance | BIC reported | References |
Patient 3 | BRCA1 | c.3124_3133delAGCAATATTA | F | 1042 | 1047 | 77 | Yes | No | Not reported |
Patient 39 | BRCA1 | c.2805_2808del AGAT | F | 935 | 998 | 21 | Yes | No | Not reported |
Patient 1 | BRCA2 | c.5114_5117delTAAA | F | 1705 | 1710 | 70 | Yes | Yes | [53] |
Patient 15 | BRCA2 | c.2639_2640delTG | F | 880 | 888 | 29 | Yes | No | Not reported |
Number of reads per nucleotide.
Types of mutations: F: frameshift; S: stop.