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CHK2 sequence variations in breast cancer
| 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 |
All mutations were heterozygous. The total number of patients was 119 (74 sporadic and 45 BRCA2 999del5).
