The Study Of Relationship Between DBC2 Gene Mutation And Breast Cancer In Han People From Eastern China

Partâ… : Mutation analysis of DBC2 gene in breast cancerObjective: To investigate the prevalence of mutations in DBC2 of breast cancer patients, evaluate relationship between gene mutations and the susceptibility for breast cancer in Eastern China.Methods: Mutation analysis of the 285bp promoter sequence, the coding exon 7 and it's exon/intron boundaries of DBC2 was performed in thirty-two breast cancer specimens by polymerase chain reaction and direct sequencing. Eighteen benign tumour specimens were also determined as control cases.Results: No mutation in the promoter or exon 7 was found in either group. An intronic alteration (IVS7+53C>G) was found in 13 specimens. There was no significant difference in the prevalence of IVS7+53C>G between study group and control one (8/32 vs 5/18, P>0.05). IVS7+53C>G mutation was related with HER2, p53 expression (P <0.05), but not related with the age, the tumor size, the lymph node metastasis, ER and PR expression. (P >0.05).Conclusion: Mutation in the promoter and exon 7 is rare in Chinese population, and may not contribute to susceptibility for breast cancer in Eastern China. The intron alteration IVS7+53C>G is a common polymorphism, further research is required to reveal the relationship between IVS7+53C>G and breast cancer. Partâ…¡: Mutation analysis of DBC2 gene in early-onset breast cancer patients'peripheral bloodObjective: To investigate the prevalence of DBC2 mutations in early-onset breast cancer patients, evaluate relationship between gene mutations and the susceptibility for early-onset breast cancer in Eastern China.Methods: Forty-five sporadic early-onset breast cancer patients with negative family history were recruited in the study. The average age at diagnosis of the patients was 35.67 years with a range of 24-40. Thirty-six healthy adult volunteers were also recruited as control cases. Mutation analysis of the 285bp promoter sequence, the coding exon 7 and it's exon/intron boundaries of DBC2 was performed in peripheral blood by polymerase chain reaction and direct sequencing.Results: No mutation in the promoter or exon 7 was found in either group. An intronic alteration (IVS7+53C>G) was found in 23 cases, There was no significant difference in the distribution of IVS7+53C>G between study group and control one (12/45 vs 11/36, P>0.05). The mean age of the patients with IVS7+53C>G mutant was 38.33, about 3.63 years older than that of wild type DBC2 patients. Meanwhile, the frequency of IVS7+53C>G mutation was higher among patients who were 35 years or older than those younger than 35. The difference was significant (P<0.05).Conclusion: Mutation in the promoter and exon 7 of DBC2 is rare in Han people from Eastern China and may not contribute to susceptibility for early onset breast cancer in China. The intron alteration IVS7+53C>G is a common polymorphism in Chinese population, population carry IVS7+53C>G mutant tend to develop early-onset breast cancer later than those with wild type DBC2. Further research is required to reveal the relationship between IVS7+53C>G and the susceptibility for early-onset breast cancer.