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Table 3 Mutation(s) detected

From: Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? – a systematic review

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)   
  1. NI = Not Indicated, ∞? Same patient as Gao.