Table 1 Published number of families with recurrent BRCA1/2 pathogenic variants in different Baltic region countries and worldwide
HGVS [15] | Latvia | Lithuania | Estonia | Russia | Poland | Belorussia | Worldwide (CIMBA [12]) |
|---|---|---|---|---|---|---|---|
BRCA1 NM_007294.3 | |||||||
c.181 T > G | 15 (current study) 7 [5] | 22 [12] 15 [8] | – | 2 [16] | 276 [12] | 20 [17] | Worldwide total 909 |
c.1961delA | 2 (current study) 1 [13] | – | – | 1 [18] 1 [12] | – | – | Worldwide total 79 UK10 Germany 6 |
c.2481delA | 1 (current study) | 1 [12] | – | – | – | – | – |
c.3700_3704delGTAAA | 1 (current study) | 2 [12] | – | – | 10 [19] | – | Worldwide total 159 Germany 57 Czech 25 |
c.4035delA | 147 (current study) 40 [12] 43 [2] | 113 [12] 96 [8] | 3 [12] 6 [20] | 11 [12] | 69 [12] | 17 [17] | Worldwide total 304 Germany 25 |
c.4675G > A | 5 (current study) | 1 [12] | 1 [20] | – | 1 [21] | – | Worldwide total 5 Germany 1 USA 1 |
c.4689C > G | 1 (current study) | 2 [12] | – | 1 [12] | 4 [22] | – | worldwide total 104 Germany 66 |
c.5095C > T | 1(current study) | – | – | – | 1 [22] | – | Worldwide total 37 Spain 3 Germany 13 |
c.5117G > A | 18 (current study) 2 [13] | 1 [12] | 1 [20] | 1 [18] | – | – | Worldwide total 18 Spain 13 UK 1 |
c.5251C > T | – | – | – | – | 6 [19] | – | Worldwide total 94 Germany 9 Austria 16 |
c.5266dupC | 211 (current study) 58 [5] | 58 [12] 56 [8] | 7 [10] | 135 [12] | 711 [12] | 49 [17] | Worldwide total 2942 |
c.5346G > A | – | – | – | – | 5 [19] | – | Worldwide total 3 Germany 2 |
c.5503C > T | 2 (current study) | 1 [12] | – | 1 [12] | – | – | Worldwide total 183 Germany 53 |
c.68_69del | 2 ([5]) 1 [12] | 3 [23] 3 [12] | – | 7 [12] 2 [24] | 9 [19] 2 [12] | – | Worldwide total 2301 Germany 47 |
c.843_846delCTCA | 1 (current study) 1 [5] | 2 [12] 1 [23] | – | – | – | – | Worldwide total 54 Germany 13 Italy 10 |
c.-232-?_134 +?del exon 1-3del | 1 (current study) | 3 [8] 2 [23] | – | – | – | – | Worldwide total 11 Germany 3 USA 4 |
BRCA2 NM_000059.3 | |||||||
c.3847_3848del | – | 4 [12] | – | – | 1 [12] | – | Worldwide total 169 Germany 36 |
c.3974_3975insTGCT | – | – | – | – | 3 [19] | – | – |
c.5946delT | 1 (current study) | – | – | 1 ([12]) | 3 [12] | – | Worldwide total 1401 USA 723 Germany 29 |
c.6267delG | – | – | – | – | 3 [19] | – | – |
c.646delG | 4 [7] | – | – | – | – | – | – |
c.658delGT | 3 [7] | – | – | – | – | – | – |
c.658_659del | – | 13 [12] | – | – | 1 [12] 3 [19] | – | Worldwide total 130 Germany 22 |
c.7913_7917delTTCCT | – | – | – | – | 3 [19] | – | Worldwide total 37 Germany10 Denmark 7 |
c.8572C > T | 1(current study) | 2 [8] | – | – | – | – | Worldwide total 3 Italy 2 |
c.9402delC | – | – | – | – | 5 [19] | – | – |
c.9246_9247insA | – | – | – | – | 4 [19] | – | – |