Table 2 Frequency of rare (non-founder) BRCA1 mutations reported in the Polish population
BRCA1 mutation | Perkowska (2003) [39] | Górski (2004) [32] | Brożek (2008) [35] | Ratajska (2008) [26] | Rzepecka (2012) [54] | Gaj (2012) [55] | Cybulski (2014) [24] | Ratajska (2015) [27] | Szwiec (2015) [49] | Kluska (2015) [2015] | Current study |
|---|---|---|---|---|---|---|---|---|---|---|---|
N = 60 | N = 200 | n = 151 | N = 64 | n = 257 | n = 906 | n = 144 | n = 134 | n = 1164 | n = 512 | n =121 | |
c.342_343delTC | - | - | - | - | - | - | - | - | - | 1 | - |
c.405_408delAAGA | - | - | - | - | - | - | - | - | - | 1 | - |
c.406delA | - | - | - | - | - | - | - | - | - | 1 | - |
c.594-2A > C | - | - | - | - | - | - | - | 1 | - | - | - |
c.676delT | - | 2 | - | - | - | - | - | - | - | - | - |
c.1612C > T | - | - | - | - | - | - | - | - | - | 1 | - |
c.1687C > T | - | - | 2 | - | - | - | 1 | - | - | 8 | - |
c.1695_1696insG | - | - | - | - | - | - | - | - | - | 1 | - |
c.1793 T > A | - | - | - | - | - | - | - | 1 | - | - | - |
c.2563C > T | 1 | - | - | - | - | - | - | - | - | - | - |
c.2866_2870delTCTCA | - | 1 | - | - | - | - | - | - | - | - | - |
c.2872_2876delTTCAG | - | - | - | 1 | - | - | - | - | - | - | - |
c.3531delT | - | - | - | - | - | - | - | - | - | - | 1 |
c.3748G > T | - | - | - | - | 1 | - | - | - | - | - | - |
c.3756_3759delGTCT | - | - | - | - | 3 | 4 | - | - | - | - | - |
c.3779delT | - | - | - | - | - | 2 | - | - | - | - | - |
c.3817C > T | - | - | - | 1 | - | - | - | - | - | - | - |
c.4041_4042delAG | - | - | - | - | - | 1 | 1 | - | - | - | - |
c.4357 + 2 T > G | - | - | - | - | - | - | - | 1 | - | - | - |
c.4484 + 1G > A | 1 | - | 1 | - | - | - | - | - | - | - | - |
c.4516delG | - | - | - | - | - | - | - | - | - | 4 | - |
c.4597_4598delGA | - | - | - | - | - | - | - | - | - | 1 | - |
c.4689C > G | - | - | - | - | - | - | - | - | - | 1 | - |
c.5030_5033delCTAA | - | 1 | - | - | - | - | - | - | - | - | - |
c.5095C > T | - | - | - | - | - | - | - | - | - | 2 | - |
c.5137delG | - | - | - | - | - | - | - | - | - | 1 | - |
c.5177_5180delGAAA | - | - | - | - | - | - | 1 | - | - | - | - |
c.5232del7ins12 | - | - | - | - | - | - | - | - | - | 1 | - |
c.5251C > T | - | 3 | - | - | - | 8 | 1 | - | 3 | - | - |
c.5289insG | - | - | - | - | - | - | - | - | - | 1 | - |
c.5346G > A | 1 | - | - | - | - | - | 1 | - | - | 2 | - |