CAJ | 학술논문

目的探讨乳腺癌基因1相关环指结构域蛋白1 (BRCA1 associated RING domain 1,BARD1)剪切变异体在乳腺癌组织中的表达及其临床意义.方法对北京医院乳腺中心液氮冷冻储存的39例汉族女性散发性乳腺癌组织、12例癌旁乳腺组织和7例正常汉族女性乳腺组织提取目的基因,检测BARD1剪切变异体在不同组织中的表达状况,分析剪切变异体在不同组织中表达的差异及其临床意义.结果在各种组织中共发现4种BARD1基因的转录产物,分别为全长基因、剪切变异体γ、剪切变异体δ、剪切变异体ε.全长BARD1基因在所有组织中均有表达；剪切变异体γ、δ在乳腺癌组织阳性表达率明显高于其他两组,差异有统计学意义(P＜0.05).在癌组织中,剪切变异体的表达种类明显增多,与癌旁组织和正常组织相比差异均有统计学意义(P=0.0075).剪切变异体ε在组织分级3级、HER2阳性表达、肿瘤直径大的乳腺癌组织和预后较差的病理类型中表达明显增多,差异有统计学意义(P＜0.05).结论 BARD1剪切变异体在汉族女性散发性乳腺癌组织、癌旁组织及汉族女性正常乳腺组织中的表达存在差异；肿瘤组织中检测到剪切变异体ε的表达的患者预后可能较差.
목적 탐토유선암기인1상관배지결구역단백1 (BRCA1 associated RING domain 1,BARD1)전절변이체재유선암조직중적표체급기림상의의.방법 대북경의원유선중심액담냉동저존적39례한족녀성산발성유선암조직、12례암방유선조직화7례정상한족녀성유선조직제취목적기인,검측BARD1전절변이체재불동조직중적표체상황,분석전절변이체재불동조직중표체적차이급기림상의의.결과 재각충조직중공발현4충BARD1기인적전록산물,분별위전장기인、전절변이체γ、전절변이체δ、전절변이체ε.전장BARD1기인재소유조직중균유표체；전절변이체γ、δ재유선암조직양성표체솔명현고우기타량조,차이유통계학의의(P＜0.05).재암조직중,전절변이체적표체충류명현증다,여암방조직화정상조직상비차이균유통계학의의(P=0.0075).전절변이체ε재조직분급3급、HER2양성표체、종류직경대적유선암조직화예후교차적병리류형중표체명현증다,차이유통계학의의(P＜0.05).결론 BARD1전절변이체재한족녀성산발성유선암조직、암방조직급한족녀성정상유선조직중적표체존재차이；종류조직중검측도전절변이체ε적표체적환자예후가능교차.
Objective To evaluate the potential relationship between isoforms of BRCA1 associated RING domain 1 ( BARD1 ) and the pathophysiologic markers of sporadic breast carcinoma of female Han ethnic group. Methods The expression of BARD1 isoforms in 39 breast carcinomatous tissue, 12paracancerous-normal breast tissue and 7 controlled normal breast tissue was detected by reverse transcription polymerase chain reaction (RT-PCR) and then cloned and sequenced.The difference of isoforms expression and their clinical significance were analyzed. Results There were four transcriptive products of BARD1 found in all these candidates,named full lenth,isoform γ,isoform δ and isoform e.The positive rate of isoform γ and δ was higher in carcinomatous tissues than in paracancerous-normal tissues and normal breast tissue in healthy women ( P ＜ 0.05 ). Carcinomatous tissue expressed more kinds of isoforms.There was significant difference between carcinomatous tissue and paranormal/nomal tissue ( P =0.0075 ).There was significant correlation between isoform ε positive and poor prognosis factors such as poorly differentiation,HER2 positive,poor pathologic type and larger breast cancer lumps(P ＜ 0.05 ). Conclusions There are significant differences in the expression of BARD1 isoforms among different kinds breast tissues in the female Han ethnic group.Positive isoform ε may predict poor prognosis of breast carcinoma in the female Han ethnic group.