OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data

Figure 1

Sequencing electropherogram of polymorphisms of OGG1. (a), (b), (c), (d), and (e) are intronic mutations ((a) g.9792260 insertion of T in Intron 1, (b) g.9793680G>A (rs55846930) substitution in Intron 3, (c) g.9793748G>A substitution in Intron 3, (d) g.9798336T>G substitution in Intron 5, and (e) g.9798349T>A substitution in Intron 5). (f), (g), (h), and (i) are splice site mutations ((f) g.9792109 deletion of T at Splice site region of Intron 1, (g) g.9798307T>G substitution in splice site region of Intron 5, (h) g.9798502T>G substitution in splice site region of Intron 6, and (i) g.9800972T>G substitution in splice site region of Intron 7a). (j) and (k) are substitutions in 3′UTR ((j) g.9798848G>A substitution in 3′UTR (k) g.9798896T>C substitution in 3′UTR). (l), (m), (n), and (o) are missense mutations ((l) missense mutation Val159Gly showing g.9793544T>G substitution in Exon 3 resulting in change of codon from GTG to GGG encoding amino acid Valine instead of Glycine, (m) missense mutation Gly221Arg (TMP_ESP_3_9796483) showing g.9796483G>A substitution in Exon 4 resulting in change codon from GGG to AGG encoding the amino acid Glycine instead of Arginine, (n) missense mutation Ser326Cys (rs1052133) (CM993185) showing g.9798773C>G substitution in Exon 6d resulting in change of codon from TCC to TGC encoding the amino acid Serine instead of Cysteine, and (o) nonsense mutation Trp375 showing g.9807669G>A substitutions in Exon 8 resulting in change of codon from TGG to TGA terminating the protein instead of encoding the Tryptophan amino acid).

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