Table 3: BRCA1 and BRCA2 gene mutations in Southern, Central and Western Europe.

CountryBRCA1 mutationsBRCA2 mutationsFounder mutations

SwitzerlandG4956A [161]7253delAA [161]
Britain4184del4 [7880], 185DelAG, intron 5 splice, 5382 Ins C [80, 162], C4446T, 3875del4, 2800delAA [27], 2080delA [80], 2594delC [79]6503delTT, 9303ins31 [80]2594delC [welsh founder [79], 2800delAA [163], 1294del40 [162]
2157delG [76]
Germany655A>G [164], 4282delAG [165, 166], 300T>G, 5382insC, 4184del4bp [100], c.3700_3704del5( exon 17 and 22 del
Exon 13dup [71]
3034del4bp, 5910C3G, 6676insTA [100] 2457C3T, 5382insC, 300T3G [100]
FranceFrench-Canadian: 4446C>T, 2953delGTAinsC, R1443X, 3875delGTCT [76, 167169]
French: 3600del11, 4184del4, G1710X [170]
Exons 8–13 del
Exons 3–8 and 18–20 dup [170, 171]
French-Canadian: 6085G>T, 8765delAG, 3398delAAAAG, 6503delTT [76, 168, 169]
3398delAAAAG
[73]
Italy
c.3228_3229delAG, c.3285delA, c.1377_1378insA c.5062_5064delTGT
Exons 17, 9–19, 18–19, 1a-2, 16–20 del 4843delC
[59]
1499insA [21], 7525_7526insT, 6174delT [20]
c.289G>T, c.2950G>T
c.7963C>T and c.8878C>T
[61, 62]
c.1377_1378insA and c.5062_5064delTGT
Exon 17 del,
4843delC [20], 1499insA [21, 172]
BelgiumIVS5+3A>G [173], E1221X, 2478–2479insG [174]IVS6þ1G4A, 6503-6504delTT, 9132delC [174]IVS5+3A>G
[173]
Spain330A>G, c.187_188delAG, c.5385insC, c.5242C>A
[68]
c.66_68delAG, c.5123C>A, c.1961delA, c.3770_3771delAG, and c.5152+5G>A [67]
Exons 3–5 del [66]
9254del5, c.9254_9258delATCAT, c.3492_3493insT, 9475A>G
[68]
c.9026_9030delATCAT, c.3264insT and c.8978_8991del14 [67]
330A>G, 9254del5
6857_6858del
[65]
Exons 3–5 del [66]
Portugalc.156_157insAlu [70]c.156_157insAlu
[70]
Poland4153delA, 5382insC, 300T>G, 185delAG, 3819del5, c.190T>C, 2991del5 [87, 88],C5370T, 3875del4 [90]6238ins2del21
10323delCins11
8876delC [87]
5382insC and 300T>G
[87, 88]