Table 2 BRCA1/2 damaging mutations in Bulgarian BC patients
From: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients
Exon | HGVS nomenclature | BIC nomenclature | Protein nomenclature | Functional domain | Mutation type | Times observed |
|---|---|---|---|---|---|---|
BRCA1 | ||||||
5 | c.181 T > G | C61G | p.Cys61Gly | Ring finger | Missense | 2 |
8 | c.464delA | 583delA | p.Gln155fs | - | Frameshift | 1 |
15 | c.4603G > T | E1535X | p.Glu1535Ter | AD1 | Nonsense | 1 |
17 | c.5030_5033delCTAA | 5149del4 | p.Thr1677_Asn1678delinsIlefs | BRCT1/AD2 | Frameshift | 1 |
20 | c.5263_5264insC | 5382insC | p.Ser1755delinsSerProfs | linker | Frameshift | 22 |
22 | c.5397_5403delCCCTTGG | 5515del7 | p.Thr1799delins | BRCT2/AD2 | Frameshift | 1 |
BRCA2 | ||||||
11 | c.5718_5719delCT | 5946delCT | p.Asn1906_Ser1907 = fs | - | Frameshift | 1 |
11 | c.5851_5854delAGTT | 6079del4 | p.Ser1951_Leu1952delinsTrpfs | - | Frameshift | 2 |
11 | c.5946delT | 6174delT | p.Ser1982Argfs | BRC repeat7 | Frameshift | 1 |
17 | c.7910_7914delCCTTT | 8138del5 | p.Ala2637_Phe2638delinsAlafs | Helical Domain | Frameshift | 1 |
20 | c.8532_8533delAA | 8760delAA | p.Glu2844fs | Tower | Frameshift | 1 |
23 | c.9098_9099insA | 9326insA | p.Thr3033delinsThrSerfs | OB2 | Frameshift | 4 |
27 | c.9682delA | 9908delA | p.Gln3227fs | - | Frameshift | 1 |