Table 1 Mutations in BRCA1 gene in Slovenian population.
From: The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population
BIC nomenclature* | HGVS nomenclature** | Protein change according to BIC database | Described in BIC database (No. of quotations in BIC) | Present in other than Slovenian population (No. of families) *** | No. of positive Slovenian families |
|---|---|---|---|---|---|
235G > A | c.116G > A | C39Y | yes (4) | 3 | |
300T > G | c.181T > G | C61G | yes (202) | Germany (30), Italy (?), Czech rep (20), Austria (3), Slovakia (2) | 15 |
300T > A | c.181T > A | C61S | no | 4 | |
310G > A | c.191G > A | C64Y | yes (20) | Germany (1), Czech rep (1), Canada (2) | 1 |
576delAG | c.457_458delAG | 157X | no | 1 | |
963-969 dup (969ins7) | c.844_850dupTCATTAC | 288X | yes (2) | Germany (2) | 8 |
962 del4 | c.843_846delCTCA | 297X | yes (17) | Germany (2), Italy (?), Czech rep (1), Austria (2), Slovakia (2), Canada (2- Slavic origin) | 2 |
1806C > T | c.1687C > T | Q563X | yes (88) | Germany (5), Czech rep (6), Austria (2) | 13 |
2388delG | c.2269delG | 764X | yes (7) | 1 | |
3137delTTCA | c.3018_3021delTTCA | 1022X | yes (2) | 1 | |
5296 del4 (GAAA) | c.5177_5180delGAAA | 1728X | yes (45) | 1 | |
5370C > T | c.5251C > T | R1751X | yes (30) | Germany (1), | 1 |
5382insC | c.5266dupC | 1829X | yes (200) | Germany (46), Italy (?), Czech rep. (75), Netherlands (5), Austria (2), Slovakia (2) | 8 |
5496A > T | c.5377A > T | K1793X | no | 2 | |
Ex1-2del | Ex1-2del | no | Germany (?),Czech (1) Canada, Spain | 1 | |
Ex5-10 del | Ex5-10 del | no | 3 | ||
Ex5-8 del | Ex5-8 del | no | 1 | ||
Ex5-7 del | Ex5-7 del | no | Spain, Germany | 2 | |
Total BRCA1 | 68 |