Review Article

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

Table 5

BRCA1 and BRCA2 gene mutations in America.

CountryBRCA1 mutationsBRCA2 mutationsFounder mutations

Cubac.5231delT [188]c.3394C>T, c.7697T>C [188]
Costa RicaC3522T [189] 5531delTT, C5507G and 6174delT [189]
Chile185AGdel [39, 104]c.5373_5376 del GTAT, c.373G>T [104]
Brazil5382insC [101, 102, 190]S2219X, C1290Y [101], 6633del5 [102]
Colombia (Hispanic and Colombia)3450delCAAG [33, 191] and A1708E (polymorphism) [33]
Exons 9–12 del [97]
3034delACAA [33]3450delCAAG [191]
Exons 9–12 del (Mexican founder) [97]
Bahamas
IVS13+1G>A, 4730insG, T5443G, IVS16+6T>C, 943ins10, 185delAG [103]818delA, exons 8-9 del [105]
818delA [105]
Venezuela
c.951_952insA, c.1129_1135insA, c.4603G>T and IVS20+1G>A [192]c.3036_3039delACAA, c.6024_6025_delTA, c.2732_2733insA and c.3870_3873delG [192]
Puerto RicoExons 1-2 del [193]4150G>T, 6027del4 [193]
Mexicoc.3124_3133delAGCAATATTA
c.2805_2808delAGAT [194]
c.5114_5117delTAAA
c.2639_2640delTG [194]