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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