Research Article
Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing
Table 2
Pathogenic mutations in the validation set tested for the evaluation of the AVA 2.7 software.
| | Variant HGVS | Gene | Variant freq. % (number of reads) | | forward | reverse |
| | c.70_71insTGTC | BRCA1 | 55.88 (68) | 59.32 (59) | | c.1121-1123delCACinsT | BRCA1 | 35 (60) | 49.25 (67) | | c.1961delA | BRCA1 | 38.68 (106) | 31.07 (103) | | c.2921T>A (p.L974X) | BRCA1 | 51.16 (43) | 36.21 (58) | | c.3767_3768delCA | BRCA1 | 26 (50) | 54.69 (64) | | c.3770-3771delAG | BRCA1 | 50 (50) | 47.46 (59) | | c.4107-4110dupATCT | BRCA1 | 54.24 (59) | 51.85 (54) | | c.5123C>A | BRCA1 | 52.38 (42) | 56.25 (48) | | c.1842dupT | BRCA2 | 56.00 (25) | 55.17 (29) | | c.5350-5351delAAinsT | BRCA2 | 48.92 (139) | 54.08 (98) | | c.6275-6276delTT | BRCA2 | 47.41 (116) | 38.13 (139) | | c.7617+1G>A | BRCA2 | 34.78 (23) | 48.28 (29) | | c.8946delAa | BRCA2 | 100 (52) | 44.44 (36) | | c.9026_9030delATCAT | BRCA2 | 50.94 (53) | 40.54 (37) |
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Mutation located in a homopolymeric region.
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