CAJ | 학술논문

目的：探讨ERCC2基因rs3916840 C/T、rs1799793 G/A和rs238416 G/A多态性在乳腺癌分子病理诊断中的应用价值。方法应用聚合酶链反应-限制性片段长度多态性( polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)法比较101例乳腺癌和101例正常对照组中ERCC2基因rs3916840、rs1799793和rs238416位点的多态性分布与乳腺癌易感性及临床病理特征之间的关系。结果 rs3916840位点的多态性分布与肿瘤大小显著相关(P=0．049)；rs1799793位点的多态性分布与乳腺病理组织PR状态(P=0．037)及三阴性乳腺癌(P=0．037)显著相关,rs238416位点的多态性分布与p53蛋白表达显著相关,p53蛋白阳性的乳腺癌患者所携带的GA基因型频率显著低于 p53阴性乳腺癌患者( P=0．026)。缺失rs238416位点基因型GA的个体患乳腺癌的风险增加0．287倍(P<0．001,95%CI：0．153~0．537),rs3916840和rs1799793位点多态性分布与乳腺癌的发病风险无关( P>0．05)。结论 rs3916840、rs1799793和rs238416位点的多态性分布分别与肿瘤大小、PR状态、三阴性乳腺癌以及p53蛋白表达相关,检测ERCC2基因的多态性在乳腺癌的早期诊断及预后中具有一定的应用价值。
목적：탐토ERCC2기인rs3916840 C/T、rs1799793 G/A화rs238416 G/A다태성재유선암분자병리진단중적응용개치。방법응용취합매련반응-한제성편단장도다태성( polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP)법비교101례유선암화101례정상대조조중ERCC2기인rs3916840、rs1799793화rs238416위점적다태성분포여유선암역감성급림상병리특정지간적관계。결과 rs3916840위점적다태성분포여종류대소현저상관(P=0．049)；rs1799793위점적다태성분포여유선병리조직PR상태(P=0．037)급삼음성유선암(P=0．037)현저상관,rs238416위점적다태성분포여p53단백표체현저상관,p53단백양성적유선암환자소휴대적GA기인형빈솔현저저우 p53음성유선암환자( P=0．026)。결실rs238416위점기인형GA적개체환유선암적풍험증가0．287배(P<0．001,95%CI：0．153~0．537),rs3916840화rs1799793위점다태성분포여유선암적발병풍험무관( P>0．05)。결론 rs3916840、rs1799793화rs238416위점적다태성분포분별여종류대소、PR상태、삼음성유선암이급p53단백표체상관,검측ERCC2기인적다태성재유선암적조기진단급예후중구유일정적응용개치。
Purpose To evaluate the application value of ERCC2 gene polymorphism ( rs3916840 C/T, rs1799793 G/A and rs238416 G/A) detection in molecular pathological diagnosis of breast cancer. Methods The polymorphisms of ERCC2 ( rs3916840, rs1799793 and rs238416) were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in 101 patients with breast cancer and in 101 cancer-free controls. Results Analysis of the data showed a 0. 287-fold increased risk of breast cancer due to the deletion of genotype GA at rs238416 (P<0. 001, 95%CI: 0. 153 ~0. 537). However, polymorphisms of rs3916840 and rs1799793 were not associated with breast cancer risk (P>0. 05). Furthermore, Heterozygous genotype of rs3916840 was significantly associated with tumor size (P=0. 049), heterozygous genotype of rs1799793 was significantly associated with PR sta-tus and triple negative breast cancer (P=0. 037). Remarkably, the genotype frequency of GA in p53-positive patients was lower than that in p53-negiative patients (P=0. 026). Conclusions These results indicate that the polymorphism of rs238416 of ERCC2 is sig-nificantly associated with breast cancer risk. Tumor size, PR status, triple negative breast cancer, and p53 protein expression are asso-ciated with polymorphisms of ERCC2 (rs3916840, rs1799793 and rs238416) respectively. ERCC2 gene polymorphism detection is useful for the early diagnosis and prognosis evaluation of breast cancer.