乳腺癌中BRCA1基因突变与雌激素受体的关系

目的探讨遗传性乳腺癌与卵巢癌易感基因(Hereditarybreastandovariancancersusceptibilitygene,BRCA1)基因突变、雌激素受体(Estrogenreceptor,ER)在乳腺癌中的作用以及二者之间的关系。方法选取64例乳腺癌患者标本作研究组,另取10例非癌乳腺组织标本作对照组。利用PCR-SSCP法和直接测序法检测BRCA1基因突变情况;利用SP(链霉菌抗生物素蛋白-过氧化物酶链接法)二步法检测ER,比较ER阳性组与ER阴性组BRCA1突变情况。结果10例非乳腺癌组织未检测出BRCA1基因突变。64例乳腺癌标本中检出BRCA1基因突变6例,突变率为9.4%。突变发生在5、12、17外显子上,均为错义突变,ER阳性44例,阳性率为68.75%(44/64)。ER阳性组中只有1例BRCA1突变(1/44),ER阴性组中有5例检出BRCA1突变(5/20),两组比较BRCA1突变率有显著差异性(P>0.05)。结论广西乳腺癌与BRCA1基因突变有关,BRCA1突变与雌激素受体有关,BRCA1基因突变病人雌激素阴性状态比非BRCA1基因突变病人多。

BRCA1 gene mutations and estrogen receptors in human breast cancer

Objective To study the role of the hereditary breast and ovarian cancer susceptibility gene(BRCA1)mutation and estrogen receptor(ER)in breast cancer and study the relationship between BRCA1and ER.Methods64cases with breast cancer were used as the studied group,breast tissues of10cases without cancer were used as the controls.Mutational screening was performed by single-strand conformation polymorphism analysis(SSCP),and alterations were confirmed by DNA sequencing.The estrogen receptors were detected by SP.The BRCA1gene mutations in ER-positive group were compared with those in ER-negative group.Results No mutation was identified in the controls.A total of6single nucleotide changes in BRCA1were identified,all mutations were missense mutations.There were44cases with ER(+),only1case had BRCA1mutation,but there5cases with BRCA1mutation in ER(-)group(5/20).The difference was notable between the two groups.Conclusion BRCA1mutation is related to breast cancer in Guangxi.BRCA1mutations have relation with estrogen receptors.BRCA1-related breast cancers are more frequently estrogen receptor negative than no BRCA1-related breast cancers.