BRCA Genetic Screening in Middle Eastern and North African: Mutational Spectrum and Founder BRCA1 Mutation (c.798_799delTT) in North African

Table 3

Pathogenic mutations among Northern African populations.

Genetic variant	Consequence	Age at diagnosis	Familial or sporadic	BC or OC	Reference
Morocco
c.181T>G	p.Cys61Gly	34	Familial	BC	[22]
c.798_799delTT	p.Ser267LysfsX19	40, 42, 44	Familial	BC	[22, 23]
c.1016dupA	p.Lys1698X	44, 46	Familial	BC	[23]
c.2805delA	p.S896Vfs104	41	Familial	BC	[22]
c.3279delC	p.Ile1859LysfsX3	32	Familial	BC	[22]
c.4942A>T	p.Lys1648X	45	Familial	BC	[23]
c.5062_5064delGTT	p.Val1688del	25	Familial	BC	[22]
c.5095C>T	p.Arg1699Trp	44, 45	Familial	BC	[23]
Algeria
c.46_74del29	p.Asn16fs	29	Sporadic	BC	[24]
c.46_74del29	p.Asn16fs	37 + 44	Familial	BC	[24]
c.83_84delTG	p.Leu28Argfs x12	26	Sporadic	BC	[24]
c.83_84delTG	p.Leu28Argfsx12	32	Familial	BC	[25]
c.181T>G	p.Cys61Gly	45	Familial	BC	[25]
c.202+1G>A	Splice donor exon 5	25	Familial	BC	[24]
c.798_799delTT	p.Ser267LysfsX19	30, 32, 33, 43, ni	Familial	BC	[24, 25]
c.1817delC	p.Pro606fs	37	Sporadic	BC	[24]
c.2745dupT	p.Ser915fs	36	Sporadic	BC	[24]
c.3715delT	p.Ser1239fs	36	Sporadic	BC	[24]
Tunisia
c.211dupA	p.Arg71LysfsX80	54, 47, 38, 40, 40, 27	Familial	BOC, BBC, BC	[26, 28]
c.212+2insG	IVS5+2insG	ni	Familial	BC	[27]
c.798_799delTT	p.Ser267LysfsX19	38, 38, 43	Familial	BC	[27]
c.1504_1508delTTAAA	p.Leu502Alafs	32	Familial	BC	[28]
c.2551delG	p.Glu851Asnfs41	45	Familial	BC	[26]
c.3331_3334delCAAG	3450delCAAG	ni	Familial	BC	[27]
c.4041delAG	p.Gly1348AsnfsX6	65	Familial	BC	[26]
c.5266dupC	p.Gly1348AsnfsX6	50, ni, 34, 56, 47	Familial	BOC, BC	[26–28]

ni: no information.