目的:评估BRCA1/2基因突变状态与卵巢癌患者临床特征的相关性及对预后的影响。方法:选取2017年11月—2022年6月在兰州大学第一医院进行治疗的51例接受BRCA1/2基因检测的卵巢癌患者作为研究对象,根据检测结果分为BRCA1/2突变组(30例)和BR...目的:评估BRCA1/2基因突变状态与卵巢癌患者临床特征的相关性及对预后的影响。方法:选取2017年11月—2022年6月在兰州大学第一医院进行治疗的51例接受BRCA1/2基因检测的卵巢癌患者作为研究对象,根据检测结果分为BRCA1/2突变组(30例)和BRCA1/2正常组(21例)。比较2组患者的临床基线资料、临床病理特征和预后,分析影响BRCA1/2基因突变的卵巢癌患者预后的相关因素。结果:BRCA1/2突变组与BRCA1/2正常组相比,发病年龄、体质量指数(body mass index,BMI)、恶性肿瘤家族史、治疗前糖类抗原125(carbohydrate antigen 125,CA125)及人附睾蛋白4(human epididymis protein 4,HE4)差异均无统计学意义(均P>0.05)。BRCA1/2突变组与BRCA1/2正常组肿瘤分期及淋巴结转移情况比较,差异有统计学意义(P<0.05)。多因素Cox回归分析显示BRCA1/2基因突变不是卵巢癌生存率及无进展生存期的独立预后因素(HR=0.752,95%CI:0.394~1.435,P=0.329)。结论:BRCA1/2基因突变是决定卵巢癌患者临床治疗的重要因素,与肿瘤分期及淋巴结转移情况显著相关,但仍不能确定BRCA1/2基因突变是卵巢癌的独立危险因素。展开更多
目的探讨BRCA1相关蛋白1(BAP1)在肝细胞肝癌(LIHC)中的表达变化及其与预后的关系。方法从UALCA获得癌症基因组图谱(TCGA)中LIHC的BAP1 m RNA表达水平及临床数据并进行数据分组和处理。采用R3.2.2软件进行分析。比较BAP1在癌组织与正常...目的探讨BRCA1相关蛋白1(BAP1)在肝细胞肝癌(LIHC)中的表达变化及其与预后的关系。方法从UALCA获得癌症基因组图谱(TCGA)中LIHC的BAP1 m RNA表达水平及临床数据并进行数据分组和处理。采用R3.2.2软件进行分析。比较BAP1在癌组织与正常组织中的表达差异,并分析LIHC患者各亚组临床指标的BAP1表达水平与正常组织的差异。采用寿命表法计算生存率,采用Kaplan-Meier法比较BAP1高表达组和中低表达组患者的生存率,并绘制患者的生存曲线。结果LIHC组织中BAP1 mRNA表达中位数为37.748 TPM,明显高于正常组织中的18.444 TPM,差异有显著统计学意义(P<0.01);患者的性别、年龄、种族、体质量、组织学类型、组织学分级、淋巴结、TNM分期Ⅰ~Ⅲ期、TP53突变的各组癌组织中BAP1表达水平与正常组织表达水平比较差异均有统计学意义(P<0.05),而Ⅳ期组癌组织中BAP1表达水平与正常组织表达水平比较差异无统计学意义(P>0.05);患者的中位生存时间为27.18个月,1年、2年、3年、4年、5年生存率分别为0.57%、0.31%、0.20%、0.13%、0.08%;BAP1 m RNA高表达的整体生存率较BAP1mRNA中低表达者短,差异均有统计学意义(P<0.05)。结论BAP1 m RNA在LIHC中呈高表达,高表达组生存率较低,提示预后不良。展开更多
Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer pat...Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.BRCA1/2 status was determined for all patients and relative risks(RRs)were calculated to evaluate cancer risk in relatives of the patients.Results:The incidences of breast cancer in female relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 33.0%,32.2%,and 7.7%,respectively.The corresponding incidences of ovarian cancer were 11.5%,2.4%,and 0.5%,respectively.The incidences of pancreatic cancer in male relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 1.4%,2.7%,and 0.6%,respectively.The corresponding incidences of prostate cancer were 1.0%,2.1%,and 0.4%,respectively.The risks of breast and ovarian cancers in female relatives of BRCA1 and BRCA2 carriers were significantly higher than female relatives of non-carriers(BRCA1:RR=4.29,P<0.001 and RR=21.95,P<0.001;BRCA2:RR=4.19,P<0.001 and RR=4.65,P<0.001,respectively).Additionally,higher risks of pancreatic and prostate cancers were noted in male relatives of BRCA2 carriers than non-carriers(RR=4.34,P=0.001 and RR=4.86,P=0.001,respectively).Conclusions:Female relatives of BRCA1 and BRCA2 carriers are at increased risk for breast and ovarian cancers,and male relatives of BRCA2 carriers are at increased risk for pancreatic and prostate cancers.展开更多
目的探讨自主运动训练在乳腺癌发生发展中的作用及其机制。方法将携带原发性人乳腺癌基因1(breast cancer gene 1,BRCA-1)突变基因的癌细胞在体外进行培养,用连续14 d自主跑轮运动鼠血清以及静坐鼠血清处理BRCA-1突变肿瘤细胞,并将上述...目的探讨自主运动训练在乳腺癌发生发展中的作用及其机制。方法将携带原发性人乳腺癌基因1(breast cancer gene 1,BRCA-1)突变基因的癌细胞在体外进行培养,用连续14 d自主跑轮运动鼠血清以及静坐鼠血清处理BRCA-1突变肿瘤细胞,并将上述条件血清培养的乳腺癌细胞注射到BALB/c裸鼠皮下,观察经过不同处理后体内外BRCA-1突变乳腺癌细胞及移植瘤的情况。结果在体外,与静坐鼠血清处理组相比,自主运动鼠血清处理后抑制了BRCA-1突变乳腺癌细胞的活力、生长,促进其凋亡,差异具有统计学意义(P<0.05);在体内,自主运动鼠血清培养的BRCA-1突变乳腺癌细胞移植瘤较静坐对照组体积减小、生长缓慢(P<0.05),体内外自主运动组均呈现出增强的Caspase-3活性(P<0.05)。结论自主跑轮运动可能通过增强Caspase3的活性、抑制了BRCA1突变乳腺癌细胞以及其在BALB/c裸鼠皮下异种移植瘤的增殖、促进肿瘤细胞凋亡,从而抑制其体内外的生长。展开更多
文摘目的:评估BRCA1/2基因突变状态与卵巢癌患者临床特征的相关性及对预后的影响。方法:选取2017年11月—2022年6月在兰州大学第一医院进行治疗的51例接受BRCA1/2基因检测的卵巢癌患者作为研究对象,根据检测结果分为BRCA1/2突变组(30例)和BRCA1/2正常组(21例)。比较2组患者的临床基线资料、临床病理特征和预后,分析影响BRCA1/2基因突变的卵巢癌患者预后的相关因素。结果:BRCA1/2突变组与BRCA1/2正常组相比,发病年龄、体质量指数(body mass index,BMI)、恶性肿瘤家族史、治疗前糖类抗原125(carbohydrate antigen 125,CA125)及人附睾蛋白4(human epididymis protein 4,HE4)差异均无统计学意义(均P>0.05)。BRCA1/2突变组与BRCA1/2正常组肿瘤分期及淋巴结转移情况比较,差异有统计学意义(P<0.05)。多因素Cox回归分析显示BRCA1/2基因突变不是卵巢癌生存率及无进展生存期的独立预后因素(HR=0.752,95%CI:0.394~1.435,P=0.329)。结论:BRCA1/2基因突变是决定卵巢癌患者临床治疗的重要因素,与肿瘤分期及淋巴结转移情况显著相关,但仍不能确定BRCA1/2基因突变是卵巢癌的独立危险因素。
文摘目的探讨BRCA1相关蛋白1(BAP1)在肝细胞肝癌(LIHC)中的表达变化及其与预后的关系。方法从UALCA获得癌症基因组图谱(TCGA)中LIHC的BAP1 m RNA表达水平及临床数据并进行数据分组和处理。采用R3.2.2软件进行分析。比较BAP1在癌组织与正常组织中的表达差异,并分析LIHC患者各亚组临床指标的BAP1表达水平与正常组织的差异。采用寿命表法计算生存率,采用Kaplan-Meier法比较BAP1高表达组和中低表达组患者的生存率,并绘制患者的生存曲线。结果LIHC组织中BAP1 mRNA表达中位数为37.748 TPM,明显高于正常组织中的18.444 TPM,差异有显著统计学意义(P<0.01);患者的性别、年龄、种族、体质量、组织学类型、组织学分级、淋巴结、TNM分期Ⅰ~Ⅲ期、TP53突变的各组癌组织中BAP1表达水平与正常组织表达水平比较差异均有统计学意义(P<0.05),而Ⅳ期组癌组织中BAP1表达水平与正常组织表达水平比较差异无统计学意义(P>0.05);患者的中位生存时间为27.18个月,1年、2年、3年、4年、5年生存率分别为0.57%、0.31%、0.20%、0.13%、0.08%;BAP1 m RNA高表达的整体生存率较BAP1mRNA中低表达者短,差异均有统计学意义(P<0.05)。结论BAP1 m RNA在LIHC中呈高表达,高表达组生存率较低,提示预后不良。
基金supported by grants from National Natural Science Foundation of China(Grant Nos.81974422,81772824,and 81802635)。
文摘Objective:The spectrum and risk of cancer in relatives of BRCA1/2 pathogenic variant carriers in the Chinese population have not been established.Methods:A family history of cancer in 9903 unselected breast cancer patients was retrospectively analyzed.BRCA1/2 status was determined for all patients and relative risks(RRs)were calculated to evaluate cancer risk in relatives of the patients.Results:The incidences of breast cancer in female relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 33.0%,32.2%,and 7.7%,respectively.The corresponding incidences of ovarian cancer were 11.5%,2.4%,and 0.5%,respectively.The incidences of pancreatic cancer in male relatives of BRCA1 carriers,BRCA2 carriers,and non-carriers were 1.4%,2.7%,and 0.6%,respectively.The corresponding incidences of prostate cancer were 1.0%,2.1%,and 0.4%,respectively.The risks of breast and ovarian cancers in female relatives of BRCA1 and BRCA2 carriers were significantly higher than female relatives of non-carriers(BRCA1:RR=4.29,P<0.001 and RR=21.95,P<0.001;BRCA2:RR=4.19,P<0.001 and RR=4.65,P<0.001,respectively).Additionally,higher risks of pancreatic and prostate cancers were noted in male relatives of BRCA2 carriers than non-carriers(RR=4.34,P=0.001 and RR=4.86,P=0.001,respectively).Conclusions:Female relatives of BRCA1 and BRCA2 carriers are at increased risk for breast and ovarian cancers,and male relatives of BRCA2 carriers are at increased risk for pancreatic and prostate cancers.
文摘目的探讨自主运动训练在乳腺癌发生发展中的作用及其机制。方法将携带原发性人乳腺癌基因1(breast cancer gene 1,BRCA-1)突变基因的癌细胞在体外进行培养,用连续14 d自主跑轮运动鼠血清以及静坐鼠血清处理BRCA-1突变肿瘤细胞,并将上述条件血清培养的乳腺癌细胞注射到BALB/c裸鼠皮下,观察经过不同处理后体内外BRCA-1突变乳腺癌细胞及移植瘤的情况。结果在体外,与静坐鼠血清处理组相比,自主运动鼠血清处理后抑制了BRCA-1突变乳腺癌细胞的活力、生长,促进其凋亡,差异具有统计学意义(P<0.05);在体内,自主运动鼠血清培养的BRCA-1突变乳腺癌细胞移植瘤较静坐对照组体积减小、生长缓慢(P<0.05),体内外自主运动组均呈现出增强的Caspase-3活性(P<0.05)。结论自主跑轮运动可能通过增强Caspase3的活性、抑制了BRCA1突变乳腺癌细胞以及其在BALB/c裸鼠皮下异种移植瘤的增殖、促进肿瘤细胞凋亡,从而抑制其体内外的生长。
