The mutation of DBC2 in breast cancer patients from the Han ethnic group in Eastern China.

OBJECTIVE:To investigate DBC2 mutations in breast cancer patients and evaluate the relationship between gene mutations and breast cancer susceptibility in an Eastern China population. METHODS:Mutation analyses of 285bp promoter sequence, coding exon 7 and its exon/intron boundaries of DBC2 were performed in 32 breast cancer specimens by polymerase chain reaction and direct sequencing. Eighteen benign breast tumor specimens were also analyzed as control. RESULTS:No mutation in the promoter or exon 7 was found in either group. An intronic alteration (IVS7+53C>G) was detected in 13 specimens. There was no significant difference in the rate of IVS7+53C>G alteration between the study and control groups (8/32 vs 5/18, respectively, P>0.05). The G allele of IVS7+53 was correlated with HER2 and p53 expression (P<0.05), but not with age, tumor size, lymph node metastasis, ER or PR expression (P>0.05). CONCLUSION:Mutation in the promoter and exon 7 of DBC2 gene is not common in the Chinese population and may not contribute to the susceptibility for breast cancer in China. The intronic alteration IVS7+53C>G is a common polymorphism in the Chinese Han ethnic group. Further research is warranted to evaluate the relationship between IVS7+53C>G and the susceptibility for breast cancer.

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