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BRCA1基因

BRCA1基因的相关文献在1997年到2022年内共计162篇,主要集中在肿瘤学、内科学、基础医学 等领域,其中期刊论文107篇、会议论文9篇、专利文献86771篇;相关期刊79种,包括现代生物医学进展、中华医学遗传学杂志、中国癌症杂志等; 相关会议9种,包括第九届中国肿瘤内科大会、第四届中国肿瘤医师大会暨中国抗癌协会肿瘤临床化疗专业委员会2015年学术年会、2014年台丽温三地外科学术研讨会、中国抗癌学会肺癌专业委员会第十二届全国肺癌学术大会等;BRCA1基因的相关文献由522位作者贡献,包括邵志敏、张海添、黄薇等。

BRCA1基因—发文量

期刊论文>

论文:107 占比:0.12%

会议论文>

论文:9 占比:0.01%

专利文献>

论文:86771 占比:99.87%

总计:86887篇

BRCA1基因—发文趋势图

BRCA1基因

-研究学者

  • 邵志敏
  • 张海添
  • 黄薇
  • 沈镇宙
  • 胡震
  • 曾健
  • 江玥
  • 沈洪兵
  • 胡志斌
  • 陆云飞
  • 期刊论文
  • 会议论文
  • 专利文献

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    • 摘要: 癌症遗传往往不是癌症本身,而是癌症的“易感性”遗传。一个基因的致病突变可能导致多种癌症,导致癌症的遗传可能出现多人患不同癌症的现象,例如BRCA1基因发生突变后,可能导致乳腺癌,还可能导致卵巢癌等。家族成员也并不一定都会患癌,因为大多数癌症都是遗传因素与环境因素相互作用的结果。
    • 朱信屹; 田田; 蔡旭; 秦广琪; 孙孟红; 吴炅; 沈镇宙; 邵志敏; 胡震
    • 摘要: 背景与目的:BRCA1和BRCA2是两个最主要的遗传性乳腺癌相关基因,本研究旨在发现中国BRCA1/2突变阳性乳腺癌的病理学特征.方法:本研究入组了2012—2016年间287例接受过BRCA1/2基因突变检测的乳腺癌,对其中BRCA1/2突变阳性和突变阴性患者的组织病理学和免疫组织化学检测结果进行了比较性研究.结果:在287例乳腺癌中,66例为BRCA1突变阳性,47例为BRCA2突变阳性,174例为BRCA1/2突变阴性.BRCA1突变的乳腺癌表现为更高的组织学分级(P<0.001),更高比例的三阴性乳腺癌(72.7%,P<0.001).BRCA1突变阳性和BRCA2突变阳性的乳腺癌中人表皮生长因子受体2(human epidermal growth factor receptor 2,HER2)的阳性表达率较BRCA1/2突变阴性的乳腺癌更低(P<0.001).BRCA1突变阳性乳腺癌基底标志物细胞角蛋白5/6(cytokeratin 5/6,CK5/6)和表皮生长因子受体(epidermal growth factor receptor,EGFR)的阳性率为50%,明显高于其他两组(P<0.001),雄激素受体(androgen receptor,AR)的阳性率也更低(P<0.05).结论:中国BRCA1突变阳性乳腺癌更多为三阴性乳腺癌,具有CK5/6和EGFR的阳性率更高等特点,并且BRCA1和BRCA2突变阳性乳腺癌中HER2受体阳性率也更低.
    • CHENG Duo; LIANG Fang; ZHANG Qing-Song; HUO Yan-Ping; ZHANG Nan; GAO Hui; DU Jie
    • 摘要: 目的 探讨中原地区家族性乳腺癌BRCA1和BRCA2基因突变的临床意义.方法 选取2016年7月至2018年12月郑州大学附属郑州中心医院乳腺外科、肿瘤内科和放疗科收治的乳腺癌患者214例作为研究对象,98例符合遗传性乳腺癌标准,并纳入独立家系,统计遗传性乳腺癌患者BRCA1/2突变情况,比较胃癌或其他恶性肿瘤家族史对BRCA1/2突变的分布及其临床影响.结果 存在乳腺癌及卵巢癌家族史者其BRCA1/2突变检出率高于仅存在卵巢癌家族史者和仅存在乳腺癌家族史者(P0.05).结论 在乳腺癌患者中,同时存在乳腺癌和卵巢癌家族史,其BRCA1和BRCA2突变率高,随着家族中患癌人数的增加而增高.
    • 缑文斌; 王烨; 张巍
    • 摘要: Purpose To investigate whether there is a difference in BRCA1 gene single nucleotide polymorphisms (SNPs) in Uighurs and Han Chinese sporadic breast cancer,and to analyze the relationship between SNPs locus and tumor susceptibility.Methods 100 cases of sporadic breast cancer (Uighur and Han 50 cases each) and 100 cases of mammary gland disease (Uighur and Han 50 cases each) were collected as the research object,the BRCA1 gene rs16941 and rs16942 were sequenced.Results The distribution of AA,AG and GG genotypes of rs16941 and rs16942 between Uygur and Han breast cancer groups were statistically significant (P =0.009,P =0.017).Compared with AA genotype of rs16941,AG genotype of rs16941 could reduce the risk of breast cancer in Uighurs (OR =0.964,95% CI:0.260-3.583,P =0.009).Compared with AA genotype of rs16942,AG genotype of rs16942 could increase the risk of breast cancer in Uighurs (OR =1.017,95% CI:0.293-3.916,P =0.017).Compared with AA genotype of rs16941,AG genotype could reduce the risk of breast cancer in Han nationality (OR=0.824,95% CI:0.210-3.234,P =0.044).Conclusion The distribution of AA,AG and GG genotypes of rs16941 and rs16942 in Uygur and Han breast cancer groups are statistically significant,and SNPs is correlated with tumor susceptibility.%目的 探讨维吾尔族及汉族散发性乳腺癌BRCA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)是否存在差异,并分析SNPs位点与肿瘤易感性的关系.方法 选取100例散发性乳腺癌(维吾尔族、汉族各50例)及100例乳腺腺病(维吾尔族、汉族各50例)作为分析对象,对BRCA1基因rs16941及rs16942进行DNA测序.结果 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组之间的分布差异有统计学意义(P=0.009,P=0.017).肿瘤易感性比较:维吾尔族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.964,95% CI:0.260 ~3.583,P=0.009);维吾尔族rs16942位点中AG与AA基因型相比,其能够增加乳腺癌的发病风险(OR=1.017,95% CI:0.293~3.916,P=0.017).汉族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.824,95% CI:0.210~3.234,P=0.044).结论 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组的分布,差异有统计学意义;SNPs与肿瘤易感性有相关性.
    • 王琳; 陈邓林; 陈俊民; 邢雪花; 王海霞; 黄琰菁; 孙达统; 杨生辉; 盛莉; 邱纯
    • 摘要: 目的 观察用胃癌组织BRCA1、ERCC1、TYMS、TUBB3的表达情况指导进展期胃癌个体化化疗的效果.方法 前瞻性纳入进展期胃癌患者80例,随机分为个体组和对照组,各40例.个体组均用免疫组化法检测胃癌组织BRCA1、ERCC1、TYMS、TUBB3蛋白,用分支DNA液相芯片技术检测胃癌组织BRCA1、ERCC1、TYMS、TUBB3 mRNA表达,并根据检测结果 选择个体化化疗方案(BRCA1、ERCC1阳性不用铂类药物,TYMS阳性不用氟尿嘧啶类药物,TUBB3阳性不用紫杉类药物).对照组一律采用DCF或改良DCF方案化疗.比较两组治疗效果及不良反应.结果2周期化疗后个体组、对照组化疗总体有效率(ORR)分别为41.9%、39.4%,KPS获益率分别为54.8%、54.5%,两组相比P均>0.05.4周期化疗后个体组、对照组ORR分别为45.0%和54.5%,KPS获益率分别为75.0%和72.7%,两组相比P均>0.05.两组均无化疗相关性死亡.两组各类型3~4级不良反应发生率相比P均>0.05.个体组9例(26.3%)、对照组19例(55.9%)因不良反应减量或停止化疗,两组因不良反应减量或停止化疗发生率相比,P0.05.结论 与单纯应用DCF或改良DCF方案相比,用胃癌组织BRCA1、ERCC1、TYMS、TUBB3的表达情况指导进展期胃癌个体化化疗的不良反应较少,但二者疗效和预后比较无统计学差异.%Objective To investigate the effects of detection of BRCA 1, ERCC1, TYMS and TUBB3 genes in guid-ance of individual chemotherapy for patients with advanced gastric cancer .Methods Eighty patients with advanced gastric cancer were randomly divided into the individual group (TG) (n=40) and the control group (CG) (n=40).The protein and mRNA expression levels of BRCA1, ERCC1, TYMS and TUBB3 genes were measured by immunohistochemical method and branched-DNA liquid chip quantitative analysis , respectively .Different chemotherapies were administered according to the mRNA expression levels of the four genes , while DCF or mDCF chemotherapy was directly applied to the control group . Overall response rate ( ORR) , adverse effects , and progression-free survival ( PFS) were observed and analyzed .Results After two cycles, ORR were 41.9%in the TG and 39.4%in the CG.KPS clinical benefit rates were 54.8%in the TG and 54.5%in the CG.There were no statistical differences between two groups (both P>0.05).After four cycles, ORR were 45%in the TG and 54.5%in the CG, and KPS clinical benefit rates were 75.0%in the TG and 72.7%in the CG. There were no statistical differences between two groups (both P>0.05).The rates of adverse effects in grade 3 to 4 were 26.3%and 55.9% in the TG and CG, respectively.There was no statistical difference between the two groups ( P>0.05), but adverse effects were significantly less serious in TG than in CG after dose reduction and chemotherapy discon -tinuance (P0.05).Conclusion Compared with DCF or mDCF chemotherapy, using their BRCA1, ERCC1, TYMS and TUBB3 mRNA expression levels in guidance of the individual chemotherapy for patients with advanced gastric cancer may reduce the adverse effects , but there are no statistical differ-ences in the ORR and PFS .
    • 石曦雯; 罗卫民; 汤朗坤
    • 摘要: 目的:分析RSK4和BRCA1基因甲基化与乳腺癌发病的关系。方法:选取50例我院2015年1月至2017年3月收治的乳腺癌患者,应用甲基化特异性PCR技术对乳腺癌组织、癌旁组织及正常乳腺组织的RSK4和BRCA1基因表达及甲基化状态进行检测。结果:RSK4与BRCA1基因在乳腺癌组织中的表达均显著低于癌旁及正常乳腺组织(P<0.05)。乳腺癌组织的RSK4基因和BRCA1基因甲基化高于癌旁及正常乳腺组织,RSK4和BRCA1基因表达与甲基化均呈负相关关系。结论:RSK4基因与BRCA1基因甲基化是导致乳腺癌RSK4与BRCA1基因表达沉默的主要因素,在乳腺癌发生、发展中有着重要作用。
    • 肖青; 赵星阳; 杨小娟; 锁娇娇; 杨文柯; 谢小冬
    • 摘要: 目的:探讨中国西北人群的乳腺癌易感基因(BRCA1)rs1799949多态性(tag SNP)与蒽环类化疗药物敏感性的关系。方法研究对象为220例接受了蒽环类药物化疗的乳腺癌患者,通过提取外周静脉血基因组DNA,运用聚合酶链式反应-限制性片段长度多态方法(PCR-RFLP)对BRCA1基因rs1799949位点进行基因分型,统计蒽环类化疗敏感与耐受人群的BRCA1 rs1799949位点基因型分布情况。结果在220例蒽环类化疗的乳腺癌患者中,对蒽环类化疗敏感和耐受分别为129例(敏感组)和91例(耐受组)。两组患者间年龄、绝经状况、BI-RADS分级、TNM分期、亚型和雌、孕激素受体表达状态、分子亚型等差异均无统计学意义(P﹥0.05)。rs1799949位点在乳腺癌蒽环类化疗药物敏感组和耐药组中的基因分布差异无统计学意义(P﹥0.05)。结论本研究结果提示在中国西北乳腺癌人群中BRCA1 rs1799949位点多态性与蒽环类化疗药物的敏感性可能没有关联性。%Objective To evaluate the association between the single nucleotide polymorphisms (SNP) rs1799949 in the region of BRCA1 gene in Chinese Northwestern breast cancer patients and their response to anthracycline-based che-motherapy. Method A total of 220 cases of breast cancer treated with anthracycline-based chemotherapy were included in the study, the genomic DNA were extracted from the peripheral venous blood. All the patients were genotyped for the rs1799949 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, and the distri-butions of genetic polymorphisms were investigated. Result In the 220 cases of breast cancer treated with anthracycline-based chemotherapy, 129 were responders while the other 91 were non-responders. The age, menstrual status, breast imag-ing and reporting data system (BI-RADS) classifications, TNM stages, histological subtype, estrogen and progesterone re-ceptor expression and molecular classification of both groups were of no significant difference (P>0.05). The gene distri-bution of rs1799949 was similar in both groups (P>0.05). Conclusion These results suggested that BRCA1 rs1799949 polymorphism may not associated with the sensitivity to anthracycline-based chemotherapy among Chinese Northwestern breast cancer patients.
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