|  |  | BRCA1 a | BRCA2 a | ||||
---|---|---|---|---|---|---|---|---|
Study | Population | n | Exon | HGVS cDNA | Protein Change | Exon | HGVS cDNA | Protein Change |
Guitierrez-Espeleta et al. 2012 [14] | Costa Rica | 111 | 11 | c.3403C > T | p.Gln1135* | 11 | c.5279C > G | p.Ser1760* |
 |  |  |  |  | 11 | c.5303_5304delTT | p.Leu1768Argfs*5 | |
Weitzel JN et al. 2007 [9] | US Hispanics | 110 | 9–12* | c.548-?_4185 + ?del (exon deletion) | p.Gly183Alafs*18 |  |  |  |
Weitzel JN et al. 2005 [26] | US Hispanics | 110 | 2 | c.66_67delAG (Mexico/Spain) | p.Glu23Valfs*17 | 11 | c.2224C > T (Mexico) | p.Gln742* |
 |  | 11 | c.1960A > T (Mexico) | p.Lys654* | 9 | c.729_732delTGAT (Mexico) | p.Asn243Lysfs*7 | |
 |  | 11 | c.943ins10 (Mexico) |  | 16 | c.7757G > A (Mexico) | p.Trp2586* | |
 |  | 11 | c.2864C > A (Mexico/Spain) | p.Ser955_Ser956?fs | 11 | c.3189_3192delGTCA (Colombia) | p.Ser1064Leufs*12 | |
 |  | 11 | c.1016dup (Cuba) | p.Val340Glyfs*6 | 11 | c.3264_3265insT (Mexico) | p.Gln1089Serfs*10 | |
 |  | 11 | c.3598C > T (Mexico) | p.Gln1200* | 11 | c.4936_4939delGAAA(Guatemala) | p.Glu1646Glnfs*23 | |
 |  | 11 | c.1086_1141del (Mexico) | p.Asn363Serfs*2 | 18 | c.8322_8323insT (El Salvador) | p. Met2775?Tyrfs*7 | |
 |  | 13 | c.4327C > T (Mexico/Peru) | p.Arg1443* | 23 | c.9026_9030delATCAT (El Salvador) | p.Tyr3009Serfs*7 | |
 |  | 11 | c.2296_2297delAG (Mexico) | p.Ser766*fs |  |  |  | |
Weitzel JN et al. 2013 [9] | US Hispanics | 746 | 2 | c.66_67delAG | p.Glu23Valfs*17 | 11 | c.3264dupT | p.Gln1089Serfs*10 |
 |  | 9–12* | c. 548-?_4185 + ?del (exon deletion) | p.Gly183Alafs*18 | 3 | c.145G > T | p.Glu49* | |
 |  | 5 | c.211A > G (Galician founder) (missense) | p.Arg71Gly |  |  |  | |
 |  | 13 | c.4327C > T | p.Arg1443* |  |  |  | |
 |  | 11 | c.3598C > T | p.Gln1200* |  |  |  | |
 |  | 11 | c.2864C > A | p.Ser955* |  |  |  | |
John EM et al. 2007 [10] | US Hispanics | 393 | 2 | c.66_67delAG | p.Glu23Valfs*17 | Â | Â | Â |
 |  | 11 | c.3029_3030delCT | p.Pro1010Argfs*7 |  |  |  | |
 |  | 11 | c.3759_3760delTA | p.Lys1254Glufs*12 |  |  |  | |
 |  | 11 | c.4065_4068delTCAA | p.Asn1355Lysfs*10 |  |  |  | |
 |  | 17 | c.5035_5039delCTAAT | p.Leu1679Tyrfs*2 |  |  |  | |
 |  | 5 | c.211A > G (Galician founder) (missense) | p.Arg71Gly |  |  |  | |
Gonzalez-Hormazabal et al. 2010 [16] | Chilean | 362 | 2 | c.68_69delAG | p.Glu23Valfs*17 | 11 | c.4742_4743insTG | p.Glu1581Aspfs*37 |
 |  | 11 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | 11 | c.5145_5148delGTAT | p.Tyr1716?Lysfs*8 | |
 |  | 11 | c.3858_3861delTGAG | p.Ser1286Argfs*20 | 11 | c.6275_6276delTT | p.Leu2092Profs*7 | |
 |  | 11 | c.4066_4069delCAAG | p.Gln1356Lysfs*9 | 18 | c.8068_8069delGT | p.Val2690Phefs*2 | |
Donenberg T et al. 2010 [22] | Bahamas | 214 | 15 | c.4611_4612insG | p.Gln1538Alafs*36 | Â | None studied | Â |
 |  | 2 | c.66_67delAG | p.Glu23Valfs*17 |  |  |  | |
Delgado L et al. 2011 [76] | Uruguay | 111 | 11 | c.2568 T > G | p.Tyr856* | 11 | c.5351_5352insA | p.Asn1784Lysfs*3 |
Rodriguez AO et al. 2012 [19] | Colombia | 100 | 11 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | 11 | c.6024_6025insG | p.Gln2009Alafs*9 |
 |  |  |  |  | 11 | c.4889C > G | p.Ser1630* | |
Torres-Mejia et al. 2014 [77] | Mexican | 810 | 9–12 | c.548-?_4185 + ?del (exon deletion) | p.Gly183Alafs*8 | 10 | c.1796_1800delTTTAT | p.Ser599* |
 |  | 11 | c.1016dup | p.Val340Glyfs*6 | 11 | c.2808_2811delACAA | p.Ala938Profs*21 | |
 |  | 11 | c.2296_2297delAG | p.Ser766*fs | 11 | c.3264_3265insT | p.SGln1089Serfs*10 | |
 |  | 11 | c.2071delA | p.Arg691Aspfs*10 | 11 | c.6486_6489delACAA | p.Lys2162Asnfs*5 | |
 |  | 11 | c.3598C > T | p.Gln1200* | 11 | c.4111C > T | p.Gln1371* | |
 |  | 13 | c.4327C > T | p.Arg1443* |  |  |  | |
Villareal-Garza et al. 2015 [40] | Mexico | 188 | 9–12* | c. 548-?_4185 + ?del (exon deletion) | p.Gly183Alafs*8 | 11 | c.6486_6489delACAA | p.Lys2162Asnfs*5 |
 |  | 11 | c.3858_3861delTGAG | p.Ser1286Argfs*20 | 11 | c.6024_6025insG | p.Gln2009Alafs*9 | |
 |  | 11 | c.4065_4068delTCAA | p.Asn1355Lysfs*10 |  |  |  | |
 |  | 5 | c.211A > G (Galician founder) (missense) | p.Arg71Gly |  |  |  | |
 |  | 11 | c.2806_2809delGATA | p.Asp936Serfs*63 |  |  |  | |
 |  | 11 | c.3759_3760delTA | p.Lys1254Glufs*12 |  |  |  | |
 |  | 2 | c.66_67delAG | p.Glu23Valfs*17 |  |  |  | |
 |  | 13 | c.4327C > T | p.Arg1443* |  |  |  | |
Ewald IP et al. 2016 [32] | Portugal | 145 | 16–17 | c.(4986 + 1_4987-1)_(5074 + 1_5075-1)del (exon deletion) |  | 3 | c.156_157insAlu (Founder) |  |
 |  | 19 | c.5177_5180delGAAA | p.Arg1726Lysfs*3 |  |  |  | |
Peixoto A et al. 2009 [31] | Portugal | 208 | Â | Â | Â | 3 | c.156_157insAlu (founder) | Â |
Rodriguez RC et al. 2008 [23] | Cuba | 307 |  |  |  | 11 | c.3166C > T | p.Gln1056* |
 |  |  |  |  | 11 | c.2376C > A | p.Tyr792* | |
 |  |  |  |  | 11 | c.2564_2565delCA | p.Thr855Lysfs*25 | |
Abugattas J et al. 2014 [18] | Peru | 266 | 2 | c.66_67delAG | p.Glu23Valfs*17 | 11 | c.2808_2811delACAA | p.Ala938Profs*21 |
 |  | 11 | c.1961delA | p.Lys654Serfs*47 |  |  |  | |
 |  | 11 | c.3759_3760delTA | p.Lys1254Glufs*12 |  |  |  | |
Dutil J et al. 2012 [24] | Puerto Rico | 23 | 1-2 | c.(?_-48)_(80 + 1_81-1)del (exon deletion) |  | 11C | c.3922G > T (only observed in PR) | p.Glu1308* |
 |  |  |  |  | 11E | c.5799_5802delCCAA | p.Asn1933Lysfs*29 | |
 |  |  |  |  |  | c.6393del | p.Lys2131Asnfs*6 | |
 |  |  |  |  | 11 F | c.6486_6489delACAA | p.Lys2162Asnfs*5 | |
 |  |  |  |  | 15 | c.7480C > T | p.Arg2494* | |
Calderon-Guarcidueñas et al. 2005 [25] | Mexican | 22 |  |  |  | 19 | c.8377G > A (missense) | p.Gly2793Arg |
Torres D et al. 2007 [20] | Colombia | 57 | 11D | c.3331_3334delCAAG (founder) | p.Gln1111Asnfs*5 | 11B | c.2808_2811delACAA (founder) | p.Ala938Profs*21 |
 |  | 18 | c.5123C > A (founder) (missense) | p.Ala1708Glu | 11B | c.5851_5854delGTTA | p.Ser1951Trpfs*11 | |
 |  |  |  |  | 11 F | c.6275_6276delTT | p.Leu2092Profs*7 | |
Lara K et al. 2012 [21] | Venezuela | 58 | 11 | c.1016dup | p.Val340Glyfs*6 | 11 | c.2808_2811delACCA | p.Ala938Profs*21 |
 |  | 14 | c.4603G > T | p.Glu1535* | 11 | c.3680_3681delTG | p.Leu1227Glnfs*5 | |
Gomes M et al. 2007 [12] | Brazil | 402 | 11C | c.3228_3229delAG | p.Gly1077Alafs*8 | 11Â F | c.6405_6409delCTTAA | p.Asn2135Lysfs*3 |
 |  | 20 | c.5263dupC (founder) | p.Glu1756Profs*4 |  |  |  | |
da Costa ECB et al. 2008 [41] | Brazil | 7 | 20 | c.5263dupC (founder) | p.Glu1756Profs*4 | Â | Â | Â |
Ewald IP et al. 2011 [37] | Brazil | 137 | 2 | c.66_67delAG | p.Glu23Valfs*17 | 11 | c.5722_5723del | p.Leu1908Argfs*2 |
Dufloth RM et al. 2005 [38] | Brazil | 31 | 20 | c.5263dupC (founder) | p.Glu1756Profs*4 | 11 | c.6656C > G | p.Ser2219* |
Gallardo M et al. 2006[15] | Chile | 77 | 11D | c.3817C > T | p.Gln1273* | 11 | c. 5946delT | p.Ser1982Argfs*22 |
 |  | 5 | c.189dup | p.Cys64Metfs*2 | 11 | c.6629_6630delAA | p.Glu2210Glyfs*14 | |
 |  | 2 | c.66_67delAG | p.Glu23Valfs*17 | 11 | c.145G > T | p.Glu49* | |
Lourenco J et al. 2004 [13] | Brazil | 47 | 20 | c.5263dupC (founder) | p.Gln1756Profs*4 | Â | Â | Â |
 |  | 11D | c.3403C > T | p.Gln1135* |  |  |  | |
 |  | 11D | c.3331_3334delCAAG | p.Gln1111Asnfs*5 |  |  |  | |
Solano AR et al. 2012 [17] | Argentina | 134 | 2 | c.66_67delAG | p.Glu23Valfs*17 | 11 | c.2808_2811delACAA | p.Ala938Profs*21 |
 |  | 5 | c.211A > G (Galician founder) (missense) | p.Arg71Gly | 11 | c.6037A > T | p.Lys2013* | |
 |  | 7 | c.427G > T | p. Glu143* |  |  |  | |
 |  | 11 | c.797_798delTT | p.Ser267Lysfs*19 |  |  |  | |
 |  | 11 | c.1504_1507del | p.Leu502Serfs*29 |  |  |  | |
 |  | 11 | c.1519delC | p.Arg507Aspfs*25 |  |  |  | |
 |  | 11 | c.507_508delAA | p.Arg170Aspfs*11 |  |  |  | |
 |  | 11 | c.2686delA | p.Ser896Valfs*104 |  |  |  | |
 |  | 11 | c.2728C > T | p. Gln910* |  |  |  | |
 |  | 11 | c.3607C > T | p. Arg1203* |  |  |  | |
 |  | 11 | c.3627insA | p.Glu1210Argfs*8 |  |  |  | |
 |  | 11 | c.3758_3759delCT | p. Ser1253* |  |  |  | |
 |  | 17 | c.5030_5033delCTAA | p.Thr1677Ilefs*2 |  |  |  | |
BIC Database | Portugal |  | 5 | c.211A > G (Galician founder) (founder) | p.Arg71Gly | 3 | c.156_157insAlu |  |
 |  | 11 | c.3689 T > G | p.Leu1230* |  |  |  | |
Blay P et al. 2013 [28] | Spain (Asturias) | 256 | 2 | c.66_67delAG | p. Glu23Valfs*17 | 3 | c.262_263delCT | p.Leu88Alafs*12 |
 |  | 5 | c.211A > G (Galician founder) (missense) | p.Arg71Gly | 11 | c.2830A > T | p.Lys944* | |
 |  | 8 | c.470_471delCT | p.Ser157* | 11 | c.5116_5119delAATA | p.Asn1706Leufs*5 | |
 |  | 11 | c.1687C > T (Spain founder) | p.Gln563* | 11 | c.5576_5579delTTAA | p.Ile1859Lysfs*3 | |
 |  | 11 | c.2900_2901dupCT | p.Pro968Leufs*33 | 18 | c.8042_8043delCA | p.Thr2681Serfs*11 | |
 |  | 11 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | 23 | c.9026_9030delATCAT | p.Tyr3009Serfs*7 | |
 |  | 11 | c.3689 T > G | p.Leu1230* | 25 | c.9310_9311delAA | p.Lys3104Valfs*6 | |
 |  | 11 | c.3770_3771delAG | p.Glu1257Glyfs*9 |  |  |  | |
 |  | 11 | c.4065_4068delTCAA | p.Asn1355Lysfs*10 |  |  |  | |
 |  | 1–24 | c.(−20 + 1_-19-1)_(*1383_?)del (exon deletion) |  |  |  |  | |
 |  | 1–13 | c.(?_-48)_(4357 + 1_4358-1)del (exon deletion) |  |  |  |  | |
 |  | 20 | c.5213_5277 + 3182delinsT (exon deletion) |  |  |  |  | |
Fachal L et al. 2014 [29] | Spain (Galicia) | 651 | 1-2 | c.(?_-48)_(80 + 1_81-1)del (exon deletion) |  |  |  |  |
 |  | 1–24 | c.(−20 + 1_-19-1)_(*1383_?)del (exon deletion) |  |  |  |  | |
 |  | 1–13 | c.(?_-48)_(4357 + 1_4358-1)del (exon deletion) |  |  |  |  | |
de Juan Jimenez I et al. 2013 [30] | Spain | 1763 | 1-2 | c.(?_-48)_(80 + 1_81-1)del (exon deletion) |  | 3 | c.145G > T | p.Glu49* |
 |  | 1-24 | c.(−20 + 1_-19-1)_(*1383_?)del (exon deletion) |  | 3 | c.262_263delCT | p.Leu88Alafs*12 | |
 |  | 20 | c.5213_5277 + 3182delinsT (exon deletion) |  | 4 | c.370delA | p.Met124Trpfs*12 | |
 |  | 2 | c.68_69delAG | p.Glu23Valfs*17 | 10 | c.1310_1313delAAGA | p.Lys437Ilefs*22 | |
 |  | 5 | c.211A > G (Galician founder) (missense) | p.Arg71Gly | 11 | c.2808_2811delACAA | p.Ala938Profs*21 | |
 |  | 11 | c.981_982delAT | p.Cys328* | 11 | c.3170_3174delAGAAA | p.Lys1057Thrfs*8 | |
 |  | 11 | c.1504_1508delTTAAA | p.Leu502Alafs*2 | 11 | c.3264_3265insT | p.Gln1089Serfs*10 | |
 |  | 11 | c.1687C > T | p.Gln563* | 11 | c.3847_3848delGT | p.Val1283Lysfs*2 | |
 |  | 11 | c.1953_1956delGAAA | p.Lys653Serfs*47 | 11 | c.3922G > T | p.Glu1308* | |
 |  | 11 | c.2694dup | p.Val899Serfs*4 | 11 | c.4936_4939delGAAA | p.Glu1646Glnfs*23 | |
 |  | 11 | c.3257 T > G | p.Leu1086* | 11 | c.5130_5133delATGT | p.Tyr1710* | |
 |  | 11 | c.3331_3334delCAAG | p.Gln1111Asnfs*5 | 11 | c.5576_5579delTTAA | p.Ile1859Lysfs*3 | |
 |  | 11 | c.3359_3360delTT | p.Val1120Glufs*12 | 11 | c.6275_6276delTT | p.Leu2092Profs*7 | |
 |  | 11 | c.3583delC | p.His1195Ilefs*15 | 11 | c.6486_6489delACAA | p.Lys2162Asnfs*5 | |
 |  | 11 | c.3627dup | p.Glu1210Argfs*9 | 11 | c.6629_6630delAA | p.Glu2210Glyfs*14 | |
 |  | 11 | c.3700_3704del | p.Val1234Glnfs*8 | 18 | c.8042_8043delCA | p.Thr2681Serfs*11 | |
 |  | 11 | c.3759dup | p.Lys1254* | 23 | c.9018C > A | p.Tyr3006* | |
 |  | 11 | c.3770_3771delAG | p.Glu1257GlyfsX9 | 23 | c.9026_9030delATCAT | p.Tyr3009Serfs*7 | |
 |  | 11 | c.3785C > A | p.Ser1262* | 25 | c.9286G > T | p.Glu3096* | |
 |  | 11 | c.4065_4068delTCAA | p.Asn1355Lysfs*10 |  |  |  | |
 |  | 12 | c.4161_4162delTC | p.Gln1388Glufs*2 |  |  |  | |
 |  | 13 | c.4307_4308delCT | p.Ser1436Phefs*4 |  |  |  | |
 |  | 13 | c.4357delG | p.Ala1453Glnfs*3 |  |  |  | |
 |  | 14 | c.4375A > T | p.Lys1459* |  |  |  | |
 |  | 15 | c.4552C > T | p.Gln1518* |  |  |  | |
 |  | 16 | c.4810C > T | p.Gln1604* |  |  |  | |
 |  | 17 | c.5030_5033delCTAA | p.Thr1677Ilefs*2 |  |  |  | |
 |  | 20 | c.5363_5364insC | p.Ala1789Lysfs*41 |  |  |  | |
 |  | 21 | c.5311_5333del | p.Pro1771Serfs*51 |  |  |  |