目的

研究细胞周期调定点激酶基因(CHEK2基因)突变与乳腺癌的关系。

方法

取65例乳腺癌组织标本作实验组,21例乳腺良性疾病组织和145例正常人血液标本作正常对照。全部标本以酚-氯仿抽提法提取DNA后经PCR扩增CHEK2基因外显子1、10、11、13、14,并分别对PCR扩增产物进行SSCP分析,然后对出现泳动变位或异常区带者进行DNA测序,最后与基因库序列对比分析其突变情况。

结果

65例乳腺癌共检测出4例突变,1例为外显子10缺失所致框移突变(1100del C),3例为外显子11的插入所致框移突变(1336ins G);145例正常人检测出1例突变,为外显子1的错义突变(252A>G);21例良性疾病患者未发现突变。所有检测对象未发现CHEK2基因外显子13、14有突变。乳腺癌组CHEK2基因突变率为6.15%(4/65),与对照组比较(0.6%,1/166)差别具有显著性(P<0.05)。

结论

CHEK2基因突变与乳腺癌发生有一定关系,可能在乳腺癌的发生发展过程中起重要作用。

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.