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

Table 2

Pathogenic mutations among middle eastern populations.

Genetic variant	Consequence	Age at diagnosis	Familial or sporadic	BC or OC	Reference
Lebanon
c.131G>T	p.Cys44Phe	ni	Familial	BC	[21]
c.424C>G^*	p.Pro142Ala	ni	Familial	BC	[21]
c.536A>G	p.Tyr179Cys	ni	Familial	BC	[21]
c.1456T>C	p.Phe486Leu	ni	Familial	BC	[21]
c.1648A>C	p.Asn550His	ni	Familial	BC	[21]
Cyprus
c.1840A>T	p.Lys614X	ni, 40	Familial	BC	[19, 20]
c.5310delG	p.Phe1772SerfsX21	ni, 33	Familial	BC	[19, 20]
Egypt
c.68_69delAG	p.Glu23ValfsX17	ni	Familial	BC	[17, 18]
c.181T>G	p.Cys61Gly	ni	Familial	BC	[17]
c.4327C>T	p.Arg1443X	ni	Familial	BC	[18]
c.5266dupC	p.Gln1756ProfsX74	ni	Familial	BC	[17]
c.5335delC	p.Gln1779Asnfs14	ni	Familial	BC	[17, 18]

ni: no information; ^*mutation is not considered deleterious in international databases.