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

Table 3

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

Country	BRCA1 mutations	BRCA2 mutations	Founder mutations
Switzerland	G4956A [161]	7253delAA [161]	—
Britain	4184del4 [78–80], 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]
Germany	655A>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]
France	French-Canadian: 4446C>T, 2953delGTAinsC, R1443X, 3875delGTCT [76, 167–169]; 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]
Belgium	IVS5+3A>G [173], E1221X, 2478–2479insG [174]	IVS6þ1G4A, 6503-6504delTT, 9132delC [174]	IVS5+3A>G; [173]
Spain	330A>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]
Portugal	—	c.156_157insAlu [70]	c.156_157insAlu; [70]
Poland	4153delA, 5382insC, 300T>G, 185delAG, 3819del5, c.190T>C, 2991del5 [87, 88],C5370T, 3875del4 [90]	6238ins2del21; 10323delCins11; 8876delC [87]	5382insC and 300T>G; [87, 88]