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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).