From: Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil
ID | HGVS cDNA | HGVS protein | BIC name | Type | Age | Ancestry | HT | CS | FH | Reference |
---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | ||||||||||
21 | c.791_794delGTTC | p.Ser264Metfs | 910del4 | F | 50â59 | BRZ | S | III | NC | [30] |
18 | c.961_962delTG | p.(Trp321fs) | ND | F | 50â59 | BRZ | S | III | - | Current Study |
49 | c.1687Câ>âT | p.Gln563Ter | 1806Câ>âT | N | 40â49 | BRZ | S | III | + | [30] |
39 | c.2215Aâ>âT | p.Lys739Ter | K739X | N | 50â59 (BC â€50) | BRZ | S | III | NC | [BIC] |
17 | c.3331_3334delCAAG | p.Gln1111Asnfs | 3450del4 | F | 30â39 | IND/BRZ/EUR | S | III | + | |
42 | c.3331_3334delCAAG | p.Gln1111Asnfs | 3450del4 | F | 50â59 | IND/BRZ/EUR | S | III | + | |
107 | c.3331_3334delCAAG | p.Gln1111Asnfs | 3450del4 | F | 50â59 (BC â€50) | BRZ/EUR | E | III | + | |
50 | c.4484Gâ>âT | p.Arg1495Met | R1495M | M | 30â39 | BRZ | S | III | - | [4] |
37 | c.4484Gâ>âT | p.Arg1495Met | R1495M | M | 50â59 | IND/BRZ | S | IV | + | [4] |
106 | c.4675+1Gâ>âA | - | IVS15+1Gâ>A | Ss | 40â49 | BRZ/EUR | S | III | - | [4] |
67 | c.5074+2Â Tâ>âC | - | IVS17+2 Tâ>C | Ss | 60â69 | BRZ/EUR | S | III | + | [BIC] |
85 | c.5098_5098delA | p.Thr1700Hisfs | 5217delA | F | 40â49 | BRZ/EUR | S | IV | - | [BIC] |
26 | c.5266dupC | p.Gln1756Profs | 5382insC | F | 50â59 | EUR | S | IV | + | |
56 | c.5266dupC | p.Gln1756Profs | 5382insC | F | 50â59 (BC â€50) | BRZ | S | III | + | |
108 | c.5266dupC | p.Gln1756Profs | 5382insC | F | 40â49 | IND/BRZ | S | III | UK | |
101 | Exon 1â2 deleteda | - | - | LGR | 50â59 | BRZ | S | III | + | |
9 | Exon 5â7 deleteda | - | - | LGR | 50â59 | BRZ /EUR | S | III | - | |
BRCA2 | ||||||||||
74 | c.1963_1963delC | p.(Pro655fs) | ND | F | 60â69 | EUR | S | III | + | Current Study |
102 | c.5576_5579delTTAA | p.Ile1859_Lys1860?fs | 5804del4 | F | 60â69 | JAP | S | III | + | [30] |