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)

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