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Table 2 CHK2 sequence variations in breast cancer

From: Mutation analysis of the CHK2 gene in breast carcinoma and other cancers

Sequence variation Codon Nucleotide change and position Effect on protein
Germ line 59 C176A T59K
  Non-coding delT (exon 1) None
  Non-coding insA (intron 2) None
Somatic 303 +3TTgt(a → c)agt (intron 8) Splice site
Polymorphism 84 A252G None
  1. All mutations were heterozygous. The total number of patients was 119 (74 sporadic and 45 BRCA2 999del5).