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Table 4 Specific Mutations by Region

From: Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia

Region Pathogenic Mutations Polymorphisms
BRCA1 BRCA2 BRCA1 BRCA2
Pacific p.Thr790Ala
p.Arg959Lys
p.Glu1345Lys
p.Val859Ser*22 p.Asp693Asn p.Asp796Asn
Caribbean NO NO NO p.Gln716Arg
p.Asn991Asp
c.1910-37dup
Andean NO NO NO NO
Coffee NO p.Leu771Phe
p.Asn818Lys
p.Lys1032Ile
NO c.1909-33delA
Eastern NO NO NO NO
  1. NO not observed