Table 3 Examples of recurrent and founder mutations in BRCA1 and BRCA2 genes described in European and non-European countries

Algerian [19]

c.798_799delTT*

p.Ser267Lysfs*

Egyptian

[73]

c.68_69delAG*

c.181T>G

c.4327C>T

c.5266dupC

c.5335delC*

p.Glu23fs*

p.Cys61Gly

p.Arg1443Ter

p.Gln1756Profs

p.Gln1779Asnfs*

c.771_775del5*

c.5335del

p.Asn257Lysfs*

p.Gln1779Asnfs

Moroccan

[9, 11, 13,14,15, 19]

c.798_799delTT*

c.3279delC

c.5309G>T*

p.Ser267Lysfs*

p.Tyr1094Ilefs

p.Gly1770Val*

c.1310_1313detAAGA

p.Lys437Ilefs

Nigerian

[74]

c.191G>A

c.303T>G *

c.1504_1508delTTAAA

c.1623dupG* c.3268C>T

c.4122_4123delTG* c.4240dupC c.5324T>G*

p.Cys64Tyr

p.Tyr101Ter*

p.Leu502Alafs

p.Asn542fs*

p.Gln1090Ter

p.Ser1374Argfs*

p.Leu1414fs

p.Met1775Arg*

c.1310_1313delAAGA c.2402_2412del11 c.8817_8820delGAAA

p.Lys437Ilefs

p.Asn801fs

p.Lys2939fs

Senegalese

[75]

c.815_824dup10*

p.Thr276Afs*

South African

[59]

c.68_69delAG

c.1374delC

c.2641G>T*

c.5266dupC

c.7934delG*

p.Glu23fs

p.Asp458Glufs

p.Glu881Ter*

p.Gln1756Profs

p.Arg2645Asnfs*

Tunisian

[19, 28, 30, 31]

c.211dupA*

c.798_799delTT*

c.5266dupC

p.Arg71Lysfs

p.Ser267Lysfs

p.Gln1756Profs

c.1310_1313detAAGA

p.Lys437Ilefs

African American

[50,51,52]

c.824_825ins10* c.1713_1717delAGAAT* c.4357+1G>A

c.498616T>C c.5177_5180delGAAA*

c.5251C>T

c.5324T>G c.5387C>A

c.4485-1G>A*

-

p.Glu572fs*

-

-

p.Arg1726Lysfs*

p.Arg1751Ter

p.Met1775Arg

p.Ser1796Ter

-

c.4471_4474delCTGA

p.Leu1491Lysfs

Argentinian

[76]

c.68_69delAG*

c.211A > G*

c.5266dupC*

p.Glu23fs*

p.Arg71Gly*

p.Gln1756Profs*

c.2808_2811del4 c.5946_5946delT*

p.Ala938Profs

p.Ser1982Argfs*

Bahamian

[77,78,79,80]

c.68_69delAG*

c.824_825ins10*

c.4357+1G>A*

c.4611_4612insG* c.49861+6T>C* c.5324T>G*

p.Glu23fs

-

-

p.Gln1538fs

-

p.Met1775Arg

c.7900delA*

p.Met2634fsX14

Brazilian

[81,82,83,84,85,86,87,88]

ins6Kb, c.68_69delAG c.211A>G*

c.1082C>G

c.2037delGinsCC

c.3331_3334delCAAG 3261delGinsCC

c.3403C>T

c.5263dupC

c.5266dupC*

-

p.Glu23fs

p.Arg71Gly*

p.Ser361Ter

p.Lys679fs

p.Gln1111fs*

-

p.Gln1135Ter

p.Glu1756Profs*4

p.Gln1756Profs

c.156_157insAlu*

c.3869G>A

c.4808delA c.5650_5659del

c.5946_5946delT c.6405_6409delCTTAA c.6656C>G

p.Lys53AlafsTer9*

p.Cys1290Tyr

p.Asn1603fs

p.Ile1884fsp.Ser1982Argfs

p.Asn2135Lysfs

p.Ser2219Ter

p.Ser2219Ter

Chilean

[89, 90]

c.68_69delAG

c.211A>G

c.1504_1507delTTAA* c.2486_2487delTT c.3331_3334delCAAG*

3759dupT*

c.3817C>T*

p.Glu23fs

p.Arg71Gly

p.Leu502Serfs*

p.Gly828_Phe829insTer

p.Gln1111fs*

p.Lys1254Terfs*

p.Gln1273Ter*

c.145G>T*

c.4740_4741insTG* c.5146_5149del4* c.6275_6276delT

c.8987T>A*

c.9382C<T*

p.Glu49Ter*

p.Glu1581Trpfs*

p.Tyr1716LysfsTer8*

p.Leu2092Profs

p.Leu2996*

p.Arg3128Ter*

Colombian

[91, 92]

c.114G>A

c.211A>G*

c.2808_2811delACAA* c.3331_3334delCAAG* c.4327C>T*

c.5123C>A*

p.Lys38=

p.Gln1111fs

p.Ala1708Glu

p.Arg1443Ter

p.Ala1708Glu

ex1-14del c.1763_1766delATAA c.2808_2811del4*

c.6024dupG

-

p.Asn588Serfs

p.Ala938Profs

p.Gln2009Alafs

Costa Rican

[93]

c.68_69del

c.3403C>T

c.5266dupC*

p.Glu23fs

p.Gln1135Ter

p.Gln1756Profs*

c.5279C>G

c.5303_5304delTT c.5946_5946delT

c.6174delT

p.Ser1760Ter

p.Leu1768fs

p.Ser1982Argfs

p.Phe2058fs

Cuban

[94]

c.3166C>T

p.Gln1056Ter

French Canadian

[56, 95,96,97,98]

c.962 G> A

c.1016dupA

c.1961dupA

c.2125_2126insA

c.2834_2836delGTAinsC

c.3649_3650insA

c.3756_3759delGTCT

c.4327C>T*

c.3756_3759delGTCT

c.5102_5103delTG

p.Trp321Ter

p.Val340GlyfsTer

p.Tyr655ValfsTer

p.Phe709TyrfsTer

p.Ser945ThrfsTer

p.Ser1217TyrfsTer

p.Ser1253ArgfsTer10

p.Arg1443Ter*

p.Ser1253fs

p.Leu1701GlnfsTer14

c.2588dupA

c.2806_2809delAAAC

c.3170_3174delAAAAG

c.3545_3546delTT

c.5857G>T*

c.6275_6276delTT

c.8537_8538delAG*

c.9004 G>A

p.Asn863LysfsTer

p.Ala938ProfsTer21

p.Lys1057fs

p.Phe1182Ter

p.Glu1953Ter*

p.Leu2092ProfsTer

p.Glu2846Glyfs*

p.Glu3002Lys

Fillipino

[99]

c.5335delC*

p.Gln1779fs*

c.4631delA*

p.Asn1544Thrfs*

Mexican

[100, 101]

c.211A>G*

c.212+1G>A

c.548-?_4185 ?del

exons 9–12del*

ex8-9dup

ex18-19del

c.4327C>T*

p.Arg71Gly*

-

-

-

-

-

p.Arg1443Ter*

Peruvian

[102]

c.68_69delAG

c.1961delA

c.4327C>T*

p.Glu23fs

p.Lys654fs

p.Arg1443Ter*

c.2808_2811del4

p.Ala938Profs

Puerto Rican

[103]

c.3922G>T*

p.Glu1308Ter*

Ashkenazi Jewish

[49, 104]

c.68_69delAG*

c.5266dupC*

p.Glu23fs*

p.Gln1756Profs*

c.5946_5946delT *

p.Ser1982Argfs*

Chinesse

[75, 105,106,107]

c.66dup

c.470_471delCT

c.981_982delAT*

c.1465G>T

c.3181del*

c.3257del c.3342_3345delAGAA c.5406+1_5406+3delGTA

c.5470_5477delATTGGGCA*

c.981_982delAT*

p.Glu23Argfs

p.Ser157Terfs

p.Cys328Terfs*

p.Glu489Ter

p.Glu1060_Ile1061insTer*

p.Arg1085_Leu1086insTer

p.Glu1115Terfs

-

p.Ile1824Aspfs*

p.Cys328Terfs

c.1832C>A c.6591_6592delTG

c.1963delC c.2808_2811delACAA

c.3109C>T*

c.7436_7805del370*

c.9097_9098insA*

p.Ser611Ter

p.Glu2198Asnfs

p.Arg655Glufs

p.Gln1037Ter*

p.Asp2479GlyfsX46*

p.T3033fs*

Indian

[108, 109]

c.68_69delAG c.178_179delCA

c.1016delA

c.2864C>A

c.3331_3334delCAAG c.4094delT

c.5074+1G>A

c.5137+1G>A

c.5098delC

c.5148T>G

p.Glu23fs

p.Gln60Valfs

p.Lys339Argfs

p.Ser955Ter

p.Gln1111Asnfs

p.Leu1365Terfs

-

-

p.Thr1700fs

p.Tyr1716Ter

c.682-2A>G

c.1907C>G

c.4638dupT

c.4779A>C c.5851_5854del4 c.8117A>G

c.5946delT*

-

p.Ser636Ter

p.Asp1547Ter

p.Glu1593Asp

p.(Ser1951TrpfsTer11)

p.Asn2706Ser

p.Ser1982Argfs*

Iraqi

[110]

c.68_69delAG

p.Glu23fs

Japanese

[111,112,113]

c.307T>A*

c.188T>A *

c.2389delGA

c.2800C>T*

c.3442delG

p.Leu63Ter*

p.Glu797Thrfs

p.Gln934Ter*

p.Glu1148Argfs

c.1278delA

c.2835C>A*

c.5576_5579delTTAA*

5802delAATT*

c.8504C>A

c.9117G>A

c.6952C>T

c.8589dupA

p.Asn433Glnfs

-

p.lle1859Lysfs*

-

p.Ser2835Ter

p.Pro3039Pro

p.Arg2318Ter

p.Ala2864Serfs

Korean

[114]

c.1399A>T

c.3744_3747delTGAG

c.7480C>T*

p.Lys467Ter

p.Ser1248Argfs

p.Arg2494Ter

Pakistani

[115,116,117]

c.3770_3771del*

c.4065_4068del* c.4485-1G>A*

c.4508C>A*

c.5503C>T*

exon 1-2 deletion*

p.Glu1257Glyfs*

p.Asn1355Lysfs*

-

p.Ser1503*

p.Arg1835*

-

Vietnamese

[118]

c.66dupA

c.5251C>T

p.Glu23Argfs

p.Arg1751Ter

c.1399A>T

c.3744_3747delTGAG

c.4478_4481delAAAG

c.7480C>T

p.Lys467Ter

p.Ser1248Argfs

p.Glu1493Valfs

p.Arg2494Ter

Austrian

[119]

c.181T>G

c.1687C>T*

c.2676_2679delAAAG*

c.3016_3019del4

c.5266dupC

p.Cys61Gly

p.Gln563Ter*

p.​Leu892_Lys893?fs*

p.His1006Glnfs

p.Gln1756Profs

c.8363G>A

c.8754+1G>A c.3860del

p.Trp2788Ter

-

p.Asn1287fs

Belarusian

[120]

c.181T>G

c.5266dupC

p.Cys61Gly

p.Gln1756Profs

Belgian

[121,122,123]

c.212+3A>G*

c.2359dupG* c.2685_2686delAA*

c.3661G>T*

-

p.Glu787Glyfs*

p.Pro897Lysfs*

p.Glu1221Ter*

c.516+1G>A*

c.6275_6276delTT*

c.8904delC*

-

p.Leu2092ProfsTer7*p.Val2969fs*

British

[124, 125]

c.2681_2682delAA*(Scotland)

c.4065_4068del4(NorthWest)

exon 13 duplication(ins6kbEx13)*

p.Lys894Thrfs*

p. Asn1355Lysfs10

-

c.6275_6276delTT* (Scotland)

c.1929delG (North-West)

p.Leu2092ProfsTer7*p.Arg645fs

Cypriot

[126, 127]

c.8755delG*

-

Czech

[128, 129]

c.181T>G*

c.5266dupC*

c.3700_3704del5*

exons 1–17 deletion*

exons 5–14 deletion*

c.7910_7914del5*

p.Cys61Gly*

p.Gln1756Profs*

p.​Cys61Gly

-

-

p.Phe2638Ter*

c.7913_7917delTTCCT*

c.8537_8538del2*

p.Phe2638Terfs*

p.Glu2846GlyfsTer22*

Danish

[130,131,132]

c.2475delC

c.3319G>T

c.3710delT

exons 3-16 deletion*

c.5266dupC

p.Asp825fs

p.Glu1107Ter

p.Ile1237Asnfs

-

p.Gln1756Profs

c.1310_1013del4

c.3847_3848delGT

c.6373delA

c.6486_6489del4

p.Lys437IlefsX22

p.Val1283Lysfs

p.Thr2125Profs

p.Lys2162AsnfsTer5

Finnish

[133,134,135,136,137]

c.2684del2

c.3485delA

c.3626delT

c.4096+3A>G*

c.4097-2A>G

c.4327C>T*

c.5251C>T

p.Ala895fs

p.Asp1162Valfs

p.Lys1208_Leu1209insTer

-

-

p.Arg1443Ter*

p.Arg1751Ter

c.8327T>G* c.771_775delTCAAA* c.7480C>T*

c.9117+1G>A*

c.9118-2A>G

p.Leu2776Ter*

p.Asn257Lysfs*

p.Arg2494Ter*

-

-

French

[43, 64]

c.3481_3491del11* c.5030_5033delCTAA c.5128G>T

-

Thr1677Ilefs2

p.Gly1710Ter

c.6644_6647delACTC

p.Tyr2215SerfsTer13

German

[138,139,140]

c.181T>G

c.2338C>T

c.4065_4068del4

Exon 17 deletion*

c.5266dupC*

p. Cys61Gly

p.Gln780Ter

p. Asn1355Lysfs10

-

p.Gln1756Profs

c.1813dupA

c.4478del4

c.9098dupA

p. Ile605Asnfs11

p.Glu1493Valfs

p.Gln3034fs

Greek

[141, 142]

c.5212G>A*

c.5251C>T

c.5266dupC*

c.5467G>A

3782del10

4512insT

p.Gly1738Arg*

p.Arg1751Ter

p.Gln1756Profs*

p.Ala1823Thr

-

-

c.4284dup*

p.Gln1429fs*

Hungarians

[143]

c.68_69delAG

c.181T>G*

c.5266dupC*

p. Glu23fs

p. Cys61Gly*

p.Gln1756Profs*

c.9097dupA

c.5946delT*

p.Thr3033Asnfs

p.Ser1982Argfs*

Icelandic

[53, 54]

c.771_775del5*

p.Asn257Lysfs*

Italian

[67, 144, 145]

c.116G>A*

c.3228_3229delAG*(Tuscany)

c.3285delA*(Tuscany)

c.1380dupA* (Tuscany)

c.5062_5064del3* (Tuscany)

c.4964_4982del19* (Calabria)

c.5062_5064delGTT*(Nordeast)

p. Cys39Tyr*

p.Gly1077Alafs*

p.Lys1095Asnfs*

p.Phe461Ilefs*

p. Val1688del*

p.Ser1655Tyrfs*

p. Val1688del*

c.8537_8538delAG* (Sardinia)

p.Glu2846Glyfs*

Irish

[146]

c.427G>T*

p.Glu143Ter*

Lativian

[147]

c.4035delA*

c.5266dupC

p.Glu1346fs*

p.Gln1756Profs

Lithuanian

[148, 149]

c.4035delA*

c.5266dupC

p.Glu1346fs*

p.Gln1756Profs

Norwegian

[150, 151]

c.1A>C

c.697delGT * c.1016dupA*

c.1556delA

c.2351del7*

c.3084del11*

c.3178G>T* c.3228delAG*

c.4745delA*

c.5075-2A>C

exons 1-13 deletion

exon 13 duplication (ins6kbEx13)

p.Met1Val

p.Val233Ter*

p.Val340Glyfs*

p.Lys519Argfs

p.Ser784Trpfs*

p.Asn1029Argfs*

p.Glu1060Ter*

p.Gly1077Alafs*

p.Asp1582fs*

-

-

-

-

c.2808del4*

c.3847delGT*

p.Ala938Profs*

p. Val1283fs*

Polish

[152]

c.181T>G*

c.3700_3704del5

c.4035delA

c.5266dupC*

p.Cys61Gly*

p.Val1234fs

p.Glu1346fs

p.Gln1756Profs*

Portuguese

[87]

c.156_157insAlu*

p.Lys53AlafsTer9*

Russian

[153]

c.68_69delAG

c.181T>G*

c.4034delA

c.5266dupC*

p. Glu23fs

p.Cys61Gly*

p.Glu1346fs

p.Gln1756Profs*

Scandinavian

[154]

c.2475delC

c.5266dupC

p.Asp825fs

p.Gln1756Profs

Scottish/ Northern Irish

[155]

c.2681_2682delAA

p.Lys894fs

c.6275_6276delTT

p.Leu2092Profs

Slovenian

[156,157,158]

c.181T>G*

c.181T>A

c.1687C>T

c.5266dupC

p.Cys61Gly*

p.Cys61Ser

p.Gln563Ter

p.Gln1756Profs

c.6589delA*

c.7806-2A>G*

p.Thr2197fs

-

Spanish

[159,160,161]

c.68_69delAG*

c.211A>G* (Galicia) c.2900_2901dupCT c.3331_3334delCAAG

c.5117G>A

c.5123C>A

c.470_471delCT

c.5153-1G>A

p.Glu23Valfs*

p.Arg71Gly*

p.Pro968Leufs

p.Gln1111Asnfs

p.Gly1706Glu

(p.Ala1708Glu)

p.Leu156_Ser157insTer

-

c.1813dupA

c.2095C>T

c.2808_2811del4

c.4030_4035delinsC c.5146_5149del4

c.6629_6630delAA

c.9026_9030del5

c.9310_9311delAA

p.Ile605Asnfs

p.Gln699

p.Ala938Profs

p.Asn1344fs

p.Tyr1716Lysfs

p.Glu2210fs

p.Tyr3009Serfs

p.Lys3104ValfsTer

Swedish

[69, 162,163,164,165,166]

c.1082_1092del11*

c.1016dupA

c.1687C>T*

c.2475delC*

c.3048_3052dupTGAGA*

c.3171_3175dup*

c.3626delT* (Northern)

exon 13 duplication (ins6kbEx13)

p.Cys360_Ser361insTer*

p. Val340LysfsX6

p.Gln563Ter*

p.Asp825fs*

p.Asn1018Metfs*

p.Thr1189fs*

p.Lys1208_Leu1209insTer

-

c.4258delG

p.Asp1420fs