Table 2.
BRCA1/2 pathogenic variants in TNBCs.
| TNBC | ||||||
|---|---|---|---|---|---|---|
| Gene | Type of PV | HGVS Nomenclature | BIC Nomenclature | Protein change | No. families | No. PV carriers (patients and family members) |
| BRCA1 | Deletion | c.514del | 633delC | p.Gln172fs | 5 (14.5%) | 15 |
| BRCA1 | SNV | c.3904G>T | 4023G>T | p.Glu1302Ter | 3 (9.1%) | 10 |
| BRCA1 | Duplication | c.5266dupC | 5382insC | p.Gln1756Profs | 3 (9.1%) | 5 |
| BRCA1 | Deletion | c.4964_4982del | 5083del19 | p.Ser1655fs | 2 (6%) | 4 |
| BRCA1 | SNV | c.3400G>T | 3519G>T | p.Glu1134Ter | 2 (6%) | 2 |
| BRCA1 | Deletion | c.798_799del | 916delTT | p.Ser267fs | 1 (2.9%) | 9 |
| BRCA1 | Deletion | c.1360_1361del | 1479delAG | p.Glu453_Ser454insTer | 1 (2.9%) | 7 |
| BRCA1 | Deletion | c.3228_3229del | 3347delAG | p.Gly1077fs | 1 (2.9%) | 6 |
| BRCA1 | Deletion | c.1531del | / | / | 1 (2.9%) | 6 |
| BRCA1 | Deletion | c.5030_5033del | 5147del4 | p.Thr1677fs | 1 (2.9%) | 4 |
| BRCA1 | Duplication | c.66dupA | 185insA | p.Glu23Argfs | 1 (2.9%) | 3 |
| BRCA1 | SNV | c.5123C>A | 5242C>A | p.Ala1708Glu | 1 (2.9%) | 1 |
| BRCA1 | Deletion | c.3266del | 3385delT | p.Leu1089fs | 1 (2.9%) | 1 |
| BRCA1 | Deletion | c.3599_3600del | 3718delAG | p.Gln1200Argfs | 1 (2.9%) | 1 |
| BRCA1 | Deletion | c.882del | 1001delA | p.Asp295fs | 1 (2.9%) | 1 |
| BRCA1 | SNV | c.2722G>T | 2841G>T | p.Glu908Ter | 1 (2.9%) | 1 |
| BRCA1 | Deletion | c.66_67del | 185_186delAG | p.Glu23fs | 1 (2.9%) | 1 |
| BRCA1 | LGR | c.-232_4675del | / | / | 1 (2.9%) | 1 |
| BRCA2 | Deletion | c.5851_5854del | 6076del4 | p.Ser1951fs | 2 (6%) | 4 |
| BRCA2 | SNV | c.8954-15T>G | / | / | 1 (2.9%) | 4 |
| BRCA2 | Deletion | c.1238del | 1466delT | p.Leu413fs | 1 (2.9%) | 1 |
| BRCA2 | Deletion | c.9455_9456del | 9683delAG | p.Glu3152fs | 1 (2.9%) | 1 |
| BRCA2 | Deletion | c.6082_6086del | 6310del5 | p.Glu2028fs | 1 (2.9%) | 1 |
Abbreviations: LGR, large genomic rearrangement; PV, pathogenic variant; SNV, single nucleotide variant.