Table 2. BRCA1 and BRCA2 mutations in breast cancer patients: Clinical aspects and molecular description.
| ID | HGVS cDNA | HGVS protein | Type | BrCa Age | OvCa Age | Tumor Subtype | HG | CS | Ancestry | FH |
|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 | ||||||||||
| 29 | c.5074+2T>C | - | SS | 58 | - | TN | 2 | ND | BRZ | Pos |
| 17 | c.5123C>A | p.Ala1708Glu | M | 56 | - | Lum B | 3 | III | BRZ/AUS | Pos |
| 47 | Exon 1-19 deleted | - | LGR | 58 | - | TN | 3 | III | BRZ/EUR | Pos |
| BRCA2 | ||||||||||
| 44 | c.2T>G | p.Met1Arg | M | 56 | - | Lum B | 3 | II | BRZ | Pos |
| 2 | c.5645C>A | p.Ser1882Ter | NS | 80 | >70 | Lum B | 2 | ND | Asian | Pos |
ID: Patient identification; SS: Splice site; M: Missense; LGR: Large genomic rearrangement; NS: Nonsense; Lum: Luminal; HG: Histological grade; CS: Clinical stage; AUS: Australian; FH: Family history of breast, ovarian, pancreatic or prostate cancer; Pos: Positive.