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

Abstract

To investigate DBC2 mutations in breast cancer patients and evaluate the relationship between gene mutations and breast cancer susceptibility in an Eastern China population. 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. 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). 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.