Table 3 Mutation(s) detected
STUDY | EXON | MUTATION | EFFECT | CARRIERS | POPULATION |
|---|---|---|---|---|---|
BRCA1 | |||||
SUB SAHARAN AFRICA | |||||
Masri | NOT STUDIED | ||||
Yawitch | NONE | ||||
Van der Merwe | NONE | ||||
Fackenthal et al. (2005) | NONE | ||||
Yazici | 2 | 185 insA | |||
Cherbal F(2010) | 2 | Deletion of Exon 2 | |||
Cherbal et al. (2010) | 3 | c.83_84delTG | |||
Cherbal et al. (2010) | 5 | c.181 T > G | |||
Troudi et al. (2007) | 5 | 330 dup A | |||
Zhang B | 7 | Y101X (422 T[G) | 3 | 365 (177) | |
Cherbal et al. (2010) | 8 | Deletion of Exon 8 | |||
Gao et al. (2000) | 11 | Q1090X | Stop | 1 | 70 |
Gao et al. (2000) | 11 | 1742insG | Frameshift | 1 | 70 |
Stoppa Lyonnet | 11 | 926ins10 | 1 | ||
Yazici | 11 | 1623delTTAAA | |||
11 | 2139delC | ||||
11 | 3819delGTAAA | ||||
Ozdag | 11 | 1201 insA | |||
11 | K654E | ||||
Troudi et al. (2007) | 11 | 4160 delAG | |||
11 | 2789 del G | ||||
Cherbal et al. (2010) | 11 | c.798_799delTT | |||
Stoppa-Lyonnet et al. (1997) | 11 | 926ins10 | Frameshift | 1 | (?160) |
Gao et al. (2000) | 11 | 3034/6del4 | Frameshift | 1 | 70 |
Fackenthal et al. (2005) | 11 | 3034/6 delACAA | |||
Masri | 11 | Not Indicated | |||
Yazici | 14 | 4508delC | |||
Int 14 | IVS-14 + 1delG | ||||
Balci et al. (1999) | 20 | 5382insC | Stop | ||
Yazici | 20 | 5382insC | |||
Troudi et al. (2007) | 20 | 5385ins C | |||
Zhang et al. (2010) | 21 | Deletion of Exon 21 | 1 | ||
Balci et al. (1999) | 24 | 5622C – T | Stop | ||
Awadelkarim KD(2007) | NI | c.3999delT | Stop (codon 1335) | ||
Awadelkarim et al. (2007) | c.4065_4068delTCAA | Stop (codon 1364) | |||
Uhrhammer et al. (2008) | c.46_74del29 | ||||
c.83_84delTG | |||||
c.202 + 1 G > A | |||||
c.798_799delTT | |||||
c.1817delC | |||||
c.2745dupT | |||||
c.3715delT | |||||
BRCA2 | |||||
Yawitch | NONE | ||||
Zhang B | NONE | ||||
ZHANG J | NONE | ||||
Stoppa Lyonnet | NONE | ||||
Urhammer | NONE | ||||
Troudi et al. (2007) | 10 | 1537 del4 | |||
Cherbal et al. (2010) | 10 | c.1310_1313delAAGA | |||
van der Merwe et al. (2010) | 11 | 5999del4 (?Founder) | Frameshift | ||
Balci et al. (1999) | 11 | 3414delTCAG | Stop | ||
Ozdag | 11 | 3034 delAAAC | |||
11 | 6880 insG | ||||
Yazici et al. (2000) | 11 | 5295insA | |||
Yazici et al. (2000) | 11 | 6656delC | |||
Troudi et al. (2007) | 11 | 5909 ins A | |||
Cherbal et al. (2010) | 11 | c.5722 5723delCT | |||
Awadelkarim et al. (2007) | c.3195_3198delTAAT | Stop (codon 1075) | |||
Awadelkarim et al. (2007) | c.6406_6407delTT | Stop (codon 2139) | |||
Awadelkarim et al. (2007) | c.8642_8643insTTTT | Stop (codon 2907) | |||