Table 1.
BRCA1/2 Pathogenic Variants Identified in Breast Cancer Patients
| Gene | Type of PV | HGVS Nomenclature | Protein Change | No. Cases | |
|---|---|---|---|---|---|
| BRCA1 | Duplication | c.66_67insA | p.(Glu23Argfs) | 1 | |
| BRCA1 | Deletion | c.117_118delTG | p.(Cys39Ter) | 1 | |
| BRCA1 | SNV | c.181T>G | p.(Cys61Gly) | 1 | |
| BRCA1 | Deletion | c.514del | p.(Gln172Asnfs) | 1 | |
| BRCA1 | SNV | c.1204G>T | p.(Glu402Ter) | 1 | |
| BRCA1 | Deletion | c.1360_1361delAG | p.(Ser454Ter) | 1 | |
| BRCA1 | Deletion | c.2350_2351delTC | p.(Ser784Valfs) | 1 | |
| BRCA1 | SNV | c.2536G>T | p.(Glu846Ter) | 1 | |
| BRCA1 | Insertion | c.2835_2836insCC | p.(Ile946Profs) | 1 | |
| BRCA1 | Duplication | c.3253dup | p.(Arg1085Lysfs) | 1 | |
| BRCA1 | SNV | c.4117G>T | p.(Glu1373Ter) | 1 | |
| BRCA1 | SNV | c.4357+1G>T | / | 1 | |
| BRCA1 | SNV | c.4484G>T | p.(Arg1495Met) | 1 | |
| BRCA1 | Deletion | c.5035_5039delCTAAT | p.(Leu1679Tyrfs) | 2 | |
| BRCA1 | Duplication | c.5266dup | p.(Gln1756Profs) | 1 | |
| BRCA1 | SNV | c.5509T>C | p.(Trp1837Arg) | 1 | |
| BRCA1 | Deletion | c.5522delG | p. (Ser1841fs*) | 1 | |
| BRCA2 | Duplication | c.428dup | p.(Val144Cysfs) | 3 | |
| BRCA2 | SNV | c.631G>A | p.(Val211Ile) | 1 | |
| SNV | c.7008–2A>T | / | |||
| BRCA2 | Duplication | c.5073_5074insA | p.(Trp1692Metfs) | 1 | |
| BRCA2 | Deletion | c.5603_5606delACAG | p.(Asp1868Valfs) | 1 | |
| BRCA2 | Deletion | c.5851_5854delAGTT | p.(Ser1951TrpfsTer) | 2 | |
| BRCA2 | Deletion | c.6082_6086 delGAAGA | p.(Glu2028Lysfs) | 1 | |
| BRCA2 | Deletion | c.6486_6489delACAA | p.(Lys2162Asnfs) | 1 | |
| BRCA2 | SNV | c.8331+2T>C | / | 1 | |
| BRCA2 | SNV | c.8487+1G>A | / | 3 | |
| BRCA2 | SNV | c.8754+4A>G | / | 1 | |
| BRCA2 | SNV | c.9004G>A | p.(Glu3002Lys) | 1 | |
| BRCA2 | Deletion | c.9026_9030delATCAT | p.(Tyr3009Serfs) | 1 | |
| BRCA2 | Deletion | c.9455_9456delAG | p.(Glu3152Glyfs) | 1 | |
Note: *Novel alteration.
Abbreviations: HGVS, Human Genome Variation Society; PV, pathogenic variant; SNV, single nucleotide variant; c, chromosome site; p, protein site; del, deletion; fs, frame-shift mutation.