Abstract:

Objective

To study the mutation of cell cycle checkpoint kinase(CHEK2)gene in human breast cancer.

Methods

The DNA was extracted by the phenol-chloroform method from 65 breast cancers,21 benign breast diseases and 145 blood samples of healthy controls.The exons 1,10,11,13 and 14 of CHEK2 gene were amplified by PCR,and the PCR products were assayed by single-strand confirmation polymorphism analysis(SSCP).The abnormal bands were analyzed by DNA sequencing and compared with those in the gene bank.

Results

Four mutations of CHEK2 gene in 65 cases of breast cancer were identified,including 1 frame-shift mutation in exon 10(1100delC)and 3 insertion mutations in exon 11(1336insG).One missense mutation in exon 1(252A>G)of CHEK2 gene was detected in a healthy person.There was no CHEK2 gene mutation in benign breast diseases.And no mutation in exron 13 or 14 of CHEK2 were detected.The frequency of CHEK2 gene mutation was higher in patients with breast cancer than that in controls(6.15%vs 0.6%,P<0.05).

Conclusion

CHEK2 gene mutation may plays an important role in the development and progression of breast cancer.

Key words: breast cancer, CHEK2 gene, SSCP, DNA sequencing