Table 3.
Characterization of reported BRCA variants.
| Gene | Cases | Gene Variant | Variant Type | ACMG Score | Associated Phenotype |
Relevant Literature |
|---|---|---|---|---|---|---|
| BRCA1 | 3 |
NM_007300.4:c.5329dup p.(Gln1777ProfsTer74) |
Duplication frameshift |
Pathogenic (PVS1, PP5, PM2) |
TN | [4,62,63,64,65] |
| L-B | ||||||
| NCO | ||||||
| BRCA1 | 2 |
NM_007300.4: c.843_846del p.(Ser282TyrfsTer15) l |
Deletion, frameshift | Pathogenic (PVS1, PP5, PM2) |
TN | [66,67,68] |
| TN | ||||||
| BRCA1 | 1 |
NM_007300.4: c.5093_5096del p.(Thr1698IlefsTer2) |
Deletion, frameshift | Pathogenic (PVS1, PP5, PM2) |
TN | [63,69,70] |
| BRCA2 | 1 |
NM_000059.4: c.2471T>G p.(Leu824Ter) |
Substitution, Missense | Pathogenic (PVS1, PP5, PM2) |
TN | [71,72] |
| BRCA2 | 1 |
NM_000059.4: c.5576_5579del (p.Ile1859fs) |
Deletion, frameshift | Pathogenic (PVS1, PP5, PM2) |
L-A | [73,74,75,76,77] |
| BRCA2 | 1 |
NM_000059.3: c.8331+1G>Ap.? |
Substitution, Missense splice site, intron 18 |
Pathogenic (PVS1, PP5, PM2) |
L-A | [78,79,80,81] |
Legend: BC = Breast carcinoma; L-A = Luminal A type BC; L-B = Luminal B type BC; NCO = Not Carried Out; T-N = Triple-Negative BC.