Review Article

A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer

Table 4

BRCA1 and BRCA2  gene mutations in Eastern Europe.

CountryBRCA1 mutationsBRCA2 mutationsFounder mutations

Czech5382insC, c.3819_3823del5, 300T>G [28], AluSx ins (g.17686-17695), AluY ins (g.18760-18769)
AluJb ins (g.33248-33276)
Exons 21–24 del
Exons 5–14 del, exons 1–17 del, c.3700_3704del5 [175]
8138_8142del5, c.8765_8766delAG [28], exons 21–24 del
[175]
300T>G, c.8765_8766delAG 8138_8142del5 [28], exons 5–14 del
Exons 1–17 del
5382insC [175]
Slovakia5382insC [176, 177], 300T>G, 185delAG, c.843_846del4 [177, 178], 300T>G, c.3700_3704del5, c.4243delG [178]c.6589delA [178, 179]c.6589delA [178, 179]
Romani5382insC, 300T>G, 461delTC [41]4817A>G, 8477delAGA [41]
Greek (South eastern Europe)5382insC and G1738R
[92]
G5331A, 3819delGTAAA [180]
8984delG [35], G4X and 3783del10 [92]5382insC and G1738R
[92], 3782del10, 4512insT [180]
Sloveniac.1193C>A [86]
c.181T>G, c.1687C>T, 5382insC,
c.844_850dupTCATTAC [85]
300T>G, 1806C>T, IVS16−2A>G [83]
c.116G>A, c.844_850dupTCATTAC, c.1687C>T, 300T>G [82]
c.5101C>T, c.5433_5436delGGAA
[86]
c.7806−2A>G, c.5291C>G, c.3975_3978dupTGCT
[85]
IVS16−2A>G [82]
5382insC, c.7806−2A>G
IVS16−2A>G [83]
Austria300T>G, 2795del4, C1806T, 5382insC [181]300T>G [181]
Croatiac.3318C>A and c.4790C>A [181]c.3318C>A, c.4790C>A [181]
Latvia4153delA, 5382insC, C61G [182, 183] 5382insC [182, 183]
Hungary5382insC, 300T>G, 185delAG [184, 185]9326insA and 6174delT [184]5382insC, 185delAG [184, 185]
Yugoslavia5382insC, 185delAG, 3447del4 [186]5382insC [186]
Belarus4153delA, 5382insC, C61G [187]4153delA and 5382insC [187]
Cyprus5429delG [35], 3232A.G, 4956A.G [27]8984delG [35], 1913T>A [36], 1342C>A, 3199A>G, 1093A>C [27]8984delG [36]