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目的研究上海地区非BRCA1/2基因突变的遗传倾向乳腺癌中CHEK2基因c.1100delC突变的携带情况及可能的作用。方法研究对象来自114例遗传倾向性乳腺癌,包括家族性乳腺癌76例,其中8例发病年龄低于40岁;38例单纯早发性乳腺癌(发病年龄<40岁)。对照组为121名无乳腺癌的健康女性,静脉血中提取基因组DNA,对CHEK2基因的第10~14外显子进行长片段PCR扩增,PCR产物再进行含突变的第10外显子的扩增。突变分析全部由DNA直接测序进行鉴定。结果研究人群和对照人群中都没有发现c.1100delC的突变;在3例(3/114,2.6%)家族性乳腺癌中发现邻近c.1100delC的新的错义突变位点1111C>T(p.His371Tyr),对照组中则无此突变发现。结论CHEK2基因c.1100delC突变可能是中国人群罕见的突变位点,在中国人乳腺癌遗传易感性中的作用非常有限;1111C>T可能与中国上海地区遗传倾向乳腺癌低度外显的易感性有关,需要进行进一步研究确认。
OBJECTIVE: To study the possibility of carrying the c.1100delC CHEK2 mutation in genetic predisposition breast cancer with non-BRCA1 / 2 mutations in Shanghai. METHODS: A total of 114 patients with genetic predisposition to breast cancer were enrolled, including 76 familial breast cancers, of whom 8 were younger than 40 years of age and 38 were those with early-onset breast cancer (age <40 years). The control group consisted of 121 healthy women without breast cancer. The genomic DNA was extracted from the venous blood, and the 10 to 14 exons of CHEK2 gene were amplified by PCR. The PCR product was further subjected to the mutation of exon 10 Amplify. Mutation analysis was all identified by DNA direct sequencing. Results No c.1100delC mutation was found in both study population and control population. A new missense mutation locus 1111C> T (p <0.001) was found in 3 (3 / 114,2.6%) familial breast cancers, .His371Tyr), but no such mutation was found in the control group. Conclusions The c.1100delC mutation in CHEK2 gene may be a rare mutation in Chinese population and has a limited role in the genetic susceptibility of human breast cancer in China. 1111C> T may be associated with low predominant susceptibility to genetic predisposition breast cancer in Shanghai, China Related to the need for further research to confirm.