Review Article
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] |
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ni: no information; *mutation is not considered deleterious in international databases.
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