| Exon | Mutation type | Protein consequence | Number of cases | Country | Cancer site | Familial Sporadic | References |
---|---|---|---|---|---|---|---|---|
BRCA1 Pathogenic variants | ||||||||
c.46_74del29 | 2 | FS | p.Asn16fs | 2 | Algeria | BC | 1 Familial 1 Sporadic | [19] |
c.66_67delAG | 2 | FS | p.Glu23fs | 2 | Morocco | BC | Familial | [15] |
c.68_69delAG | 2 | FS | p.Glu23fs | 4 | Morocco | 3 BC, 1 OC | Familial | [8] |
Del exon 2 | 2 | LGR | - | 2 | Algeria | 1 BOC, BC | Familial | |
c.83_84delTG | 3 | FS | p.Arg28fs | 2 | Algeria | BC | 1 Familial 1 Sporadic | |
c.116G>A | 3 | MS | p.Cys39Tyr | 1 | Morocco | BC | Familial | [17] |
c.181T>G | 5 | MS | p.Cys61Gly | 3 | Morocco, Algeria | BC | Familial | |
c.211dupA | 5 | FS | p.Arg71fs | 19 | Tunisia | 3 BC, 2 BOC | Familial | |
c.212+2insG | 5 | Splicing | - | 1 | Tunisia | BC | Familial | [26] |
Del exon 8 | 8 | LGR | - | 1 | Algeria | BC | Familial | [20] |
c.2338C>T | 10 | NS | p.Gln780Ter | 2 | Tunisia | OC | 1 Familial 1 Sporadic | [32] |
c.798_799delTT | 11 | FS | p.Ser267LysfsX19 | 18 | Morocco, Algeria, Tunisia | BC | 16 Familial 2 Sporadic | |
c.1016dupA | 11 | FS | p.Val340LysfsX6 | 3 | Morocco | BC | Familial | |
c.1504_1508delTTAAA | 11 | FS | p.Leu502fs | 1 | Tunisia | BC | Familial | [27] |
c.1817delC | 11 | FS | p Pro606Leufs6 | 2 | Algeria | BC | 1 Familial 1 Sporadic | |
c.202+1G>A | 11 | FS | - | 1 | Algeria | BC | Familial | [19] |
c.296_297delTG | 11 | FS | p.V99fs*9 | 1 | Tunisia | BC | Familial | [32] |
c.2125_2126insA | 11 | FS | p.Phe709Tyrfs | 4 | Morocco, Algeria | BC | 3 Familials 1 Sporadic | |
c.2418dupA | 11 | MS | p.Ala807Serfs | 1 | Tunisia | BC | Familial | [31] |
c.2551delG | 11 | FS | p.Glu851fs | 2 | Tunisia | BC | Familial | |
c.2745dupT | 11 | NS | p.Ser915fs | 1 | Algeria | BC | Sporadic | [19] |
c.2805delA | 11 | FS | p.Asp936Ilefs | 2 | Morocco | BC | Familial | |
c.3254delG | 11 | FS | p.Arg1085Asnfs2 | 1 | Tunisia | BC | Familial | [32] |
c.3279delC | 11 | FS | p.Tyr1094Ilefs | 6 | Morocco | BC | Familial | |
c.3331_3334delCAAG | 11 | FS | p.Gln1111fs | 1 | Tunisia | BC | Familial | [26] |
c.3364_3370dupACAGATT | 11 | FS | Stop1115 | 1 | Tunisia | BC | Familial | [32] |
c.3453delT | 11 | FS | p.Asp1151Glufs | 1 | Morocco | BC | Familial | [12] |
c.3715delT | 11 | FS | p.Ser1239fs | 1 | Algeria | BC | Sporadic | [19] |
c.3751dup | 11 | FS | p.Thr1251fs | 1 | Tunisia | OC | Familial | [28] |
c.4041_4042delAG | 11 | FS | p.Gly1348fs | 4 | Tunisia | 1 BC, 2 BOC, 1MBC | Familial | |
c.4065_4068del | 11 | FS | p.Asn1355Lysfs10 | 1 | Algeria | BC | Familial | [21] |
c.4067_4071delAAGAA | 11 | FS | p.GLn1356Argfs8 | 1 | Tunisia | BC | Familial | [32] |
c.5095C>T | 14 | MS | p. Arg1699Trp | 2 | Morocco | BC | Familial | [10] |
c.4676- ? _4986 + ? Del/p. ? | 15 | ? | - | 2 | Algeria | 1 BOC,1 BC | Familial | [23] |
c.5030_5033delCTAA | 15 | NS | p.Thr1677Ilefs2 | 3 | Tunisia | 1 BOC,2 OC | Familial | [32] |
c.4823C>G | 16 | NS | p.Ser1608Ter | 1 | Morocco | BC | Familial | [15] |
c.4942A>T | 16 | NS | p.Lys1648X | 1 | Morocco | BC | Sporadic | [10] |
c.5062_5064delGTT | 17 | FS | p.Val1688del | 1 | Morocco | BC | Familial | [9] |
c.5117G>C | 18 | MS | p.Gly1706Ala | 1 | Algeria | BC | Familial | [22] |
c.5158C>T | 18 | MS | p.Arg1720Trp | 1 | Morocco | BC | Familial | [15] |
c.5266dupC | 20 | FS | p.Gln1756Profs | 11 | Tunisia | 9 BC, 2 BOC | Familial | |
c.5309G>T | 20 | MS | p.Gly1770Val | 10 | Morocco | 9BC,1 OC, | 8 Familial 2 Sporadic | |
c.5332+1G>A | 20 | Splicing | - | 2 | Algeria | 1 BC, 1 OC | Familial | |
c.5390C>A | 22 | NS | p.Ser1797Ter | 1 | Morocco | BC | Familial | [17] |
BRCA2 Pathogenic variants | ||||||||
c.17_20delAAGA | 2 | FS | p.Lys6Argfs17 | 2 | Tunisia | BC | Familial | [32] |
c.250C>T | 3 | NS | p.Gln84Ter | 1 | Algeria | BC | Familial | [32] |
c.289G>T | 3 | NS | p.Glu97Ter | 1 | Morocco | BC | Familial | [22] |
c.517_1G>A | Intron 6 | SA | - | 1 | Morocco | BC | Sporadic | [9] |
c.632_1G>A | 7 | Splicing | - | 2 | Tunisia | BC | Familial | [32] |
c.1302_1305delAAGA | 10 | FS | p.Lys437fs | 1 | Morocco | OC | Familial | [15] |
c.1309del4 | 10 | FS | Stop459 | 1 | Tunisia | BC | Familial | [24] |
c.1310_1313delAAGA | 10 | FS | p.Lys437IlefsX22 | 26 | Morocco, Algeria, Tunisia | 25 BC, 1MBC | Familial | |
c.1313dupT | 10 | FS | Stop451 | 2 | Tunisia | BC | Familial | [27] |
c.1528G>T | 10 | NS | p.Glu510 | 1 | Algeria | BC | Familial | [21] |
c.1813dupA | 10 | FS | p. Ile605Asnfs11 | 1 | Algeria | BC | Familial | [23] |
c.1976_1800delCTTAT | 10 | FS | p.Ser599 | 1 | Tunisia | BC | Familial | [32] |
c.2095C>T | 10 | NS | p.Gln699Ter | 1 | Tunisia | BC | Familial | [32] |
c.5116_5119delAATA | 11 | FS | p.Arg2108Cys | 2 | Morocco | BC | Familial | |
c.3381delT | 11 | FS | p.Phe1127Leufs | 1 | Morocco | BC | Familial | [16] |
c.3847_3848delGT | 11 | FS | p.Val1283fs | 1 | Morocco | OC | Familial | [9] |
c.3860delA | 11 | FS | p.Asn1287fs | 1 | Morocco | BOC | familial | [15] |
c.5073dupA | 11 | FS | p.Trp1692Metfs | 2 | Morocco | BC | Familial | [8] |
c.5576_5579delTTAA | 11 | FS | p.I1859fs | 1 | Morocco | OC | familial | [15] |
c.5682insA | 11 | FS | - | 1 | Tunisia | BC | familial | [24] |
c.5722_5723delCT | 11 | FS | p.Leu1908Argfs2 | 1 | Algeria | BC | familial | [20] |
c.6450del | 11 | FS | p.Val2151Phefs17 | 1 | Algeria | BC | familial | [21] |
c.7110delA | 14 | FS | p.Lys2370Asnfs | 2 | Morocco | 1 OC, 1BC | familial | |
c.7234_7235insG | 14 | FS | p.Thr2412fs | 3 | Morocco | BC | Familial | |
c.7235_7236insG | 14 | FS | p.Lys2413fs | 1 | Morocco | OC | Familial | [15] |
c.7654dupA | 16 | FS | p.Ile2552Asnfs2 | 2 | Algeria | BC | Familial | |
c.7654dupT | 16 | FS | p.Ile2552fs | 2 | Tunisia | BC | Familial | [27] |
c.8485C>T | 19 | NS | p.Gln2829 | 1 | Algeria | BC | familial | [23] |
Del exons 19-20 | 19/20 | LGR | - | 1 | Algeria | BC | familial | [21] |
c.8940delA | 22 | FS | p.Glu2981Lysfs7 | 1 | Algeria | BOC | Familial | [23] |
c.9097delA | 22 | FS | p.Thr3033Leufs | 1 | Tunisia | BC | Familial | [32] |
c.9364G>A | 25 | MS | p.Ala3122Thr | 1 | Algeria | BC | familial | [22] |