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The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families

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Cancer Biology & Medicine 2022年第6期19卷 850-870页

作者： Li Dong Hailian Zhang Huan Zhang Yingnan Ye Yanan Cheng Lijuan Li Lijuan Wei Lei Han Yandong Cao Shixia Li Xishan Hao Juntian Liu jinpu yu Cancer Molecular Diagnostics Core The Second Department of Breast Cancer Cancer Prevention Center Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin’s Clinical Research Center for CancerKey Laboratory of Breast Cancer Prevention and TherapyTianjin Medical UniversityMinistry of EducationTianjin 300060China Department of Oncology Tianjin Third Central HospitalTianjin Institute of Hepatobiliary DiseaseTianjin Key Laboratory of Artificial CellArtificial Cell Engineering Technology Research Center of Public Health MinistryTianjin 300170China Analyses Technology Co.Ltd. Beijing 102600China

Objective:Approximately 5%–10%of breast cancer(BC)patients display familial traits that are genetically inherited among the members of a family.The purpose of this study was to profile the germline mutations in 43 genes with different penetration rates and their correlations with phenotypic traits in Chinese familial BC families.Methods:Ion Torrent S5™-based next generation sequencing was conducted on 116 subjects from 27 Chinese familial BC families.Results:Eighty-one germline mutations in 27 BC predisposition genes were identified in 82.8%(96/116)of the cases.Among these,80.8%of the mutated genes were related to DNA damage repair.Fourteen possible disease-causing variants were identified in 13 of 27 BC families.Only 25.9%(7/27)of the BC families exhibited hereditary deficiency in BRCA1/2 genes,while 22.2%of the BC families exhibited defects in non-BRCA genes.In all,41.7%(40/96)of the mutation carriers had BRCA mutations,88.5%(85/96)had non-BRCA mutations,and 30.2%(29/96)had both BRCA and non-BRCA mutations.The BC patients with BRCA mutations had a higher risk of axillary lymph node metastases than those without mutations(P<0.05).However,the BC patients with non-BRCA mutations frequently had a higher occurrence of benign breast diseases than those without mutations(P<0.05).Conclusions:In addition to BRCA1/2,genetic variants in non-BRCA DNA repair genes might play significant roles in the development of familial/hereditary BC.Therefore,profiling of multiple BC predisposition genes should be more valuable for screening potential pathogenic germline mutations in Chinese familial/hereditary BC.

关键词： Familial breast cancer predisposition genes DNA damage repair genes clinical features

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突变特征在肿瘤临床中的应用进展

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中国肿瘤临床 2024年第3期51卷 138-142页

作者：程亚楠(综述) 于津浦(审校) 天津医科大学肿瘤医院肿瘤分子诊断中心国家恶性肿瘤临床医学研究中心天津市恶性肿瘤临床医学研究中心天津市肿瘤免疫与生物治疗重点实验室天津市300060

高通量测序技术的快速发展将癌症基因组学的研究带入了一个新领域。癌症基因组中的体细胞突变是由多个突变过程引起的,每个突变过程都可能会产生特征性的突变特征。这些突变特征为个体癌症的病因研究提供了新的思路,揭示了影响癌症发生... 详细信息

高通量测序技术的快速发展将癌症基因组学的研究带入了一个新领域。癌症基因组中的体细胞突变是由多个突变过程引起的,每个突变过程都可能会产生特征性的突变特征。这些突变特征为个体癌症的病因研究提供了新的思路,揭示了影响癌症发生发展的内源性和外源性因素。此外,突变特征与临床诊疗的联系日益紧密,其可以作为癌症的生物标志物以及治疗疗效预测和预后判断的指标。本文从突变特征与肿瘤病因、分子分型、疗效预测、预后判断以及肿瘤起源等方面进行综述,以期为临床诊疗提供参考。

关键词：突变特征肿瘤病因治疗预后

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Rapid response of brain metastasis to crizotinib in a patient with KLC1-ALK fusion and MET gene amplification positive non-small cell lung cancer:a case report

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Cancer Biology & Medicine 2017年第2期14卷 183-186页

作者： Peng Wang Pei Xiao Yingnan Ye Pengpeng Liu Lei Han Li Dong Chunhua She jinpu yu Department of Neuro-Oncology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjin's Clinical Research Center for Cancer Cancer Molecular Diagnostic Center Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjin's Clinical Research Center for Cancer

Non-small cell lung cancer(NSCLC) ranks as the leading cause of cancer-related death in the world. Brain metastasis(BM) is a common complication of NSCLC, with 25%–40% of patients developing BM during the course of the disease. A significant strategy of local disease control in the central nervous system is radiation therapy. With the development of precision medicine,the concept of treating lung cancer BM has gradually changed. In this case, we performed a surgical procedure to obtain enough tumor tissue for the detection of the target gene and other related experiments after the patient was informed. Finally, we found that the patient had both hepatocyte growth factor receptor(MET) gene amplification and kinesin light chain 1-anaplastic lymphoma kinase fusion(KLC1-ALK) through next-generation sequencing and showed sensitivity to the targeted therapy of crizotinib. The patient exhibited good response. Our case was successful and underwent targeted therapy with the guidance of precise diagnosis.

关键词：非小细胞肺癌快速反应基因扩增 MET 患者阳性中枢神经系统放射治疗

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Benefit of everolimus as a monotherapy for a refractory breast cancer patient bearing multiple genetic mutations in the PI3K/AKT/mTOR signaling pathway

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Cancer Biology & Medicine 2018年第3期15卷 314-321页

作者： Yehui Shi Wenwen Zhang Yingnan Ye Yanan Cheng Lei Han Pengpeng Liu Weipeng Zhao Zhongsheng Tong jinpu yu Medical Oncology Department of Breast Cancer Tianjin Medical University Cancer Institute&HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin's Clinical Research Center for CancerKey Laboratory of Cancer Immunology and BiotherapyTianjin 300060China Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute&HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin's Clinical Research Center for CancerKey Laboratory of Cancer Immunology and BiotherapyTianjin 300060China Department of Immunology Tianjin Medical University Cancer Institute&HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin's Clinical Research Center for CancerKey Laboratory of Cancer Immunology and BiotherapyTianjin 300060China

A postmenopausal patient with a diagnosis of estrogen receptor(ER)(+), progesterone receptor(PR)(+), and human epidermal growth factor receptor-2(HER2)(-) breast cancer was reported. The patient refused surgery and was resistant to conventional chemotherapy regimens. Computed tomography and the circulating tumor cell test indicated that the patient's tumor burden increased rapidly even after several chemotherapy sessions. Multiple genetic aberrances in the phosphatidylinositol3-kinases(PI3 K) signaling pathway were detected via next-generation sequencing(NGS)-based liquid biopsy, including a p. G1007 R missense mutation in exon 21 of PIK3 CA(33.61%), a p.L70 fs frameshift mutation in exon 3 of phosphatase and tension homolog deleted on chromosome ten(PTEN)(49.14%), and a p. D1542 Y missense mutation in exon 32 of mammalian target of rapamycin(m TOR)(1.66%). Therefore, only the m TOR inhibitor everolimus was administered to the patient. Partial remission(PR) was observed after 2 months, and sustained stable disease(SD) was observed after a year and a half. Subsequent sequencing showed that the mutation ratio of PIK3 CA decreased to 4.17%, and that the PTEN and m TOR mutations disappeared, which revealed the significant curative effect of everolimus. We report the first case of successful monotherapy treatment using everolimus in a patient with advanced breast cancer bearing mutations in genes involved in the PI3 K/ARK/m TOR signaling pathway. The success of this case highlights the invaluable clinical contribution of NGS-based liquid biopsy, as it successfully provided an optimal therapeutic target for the patient with advanced breast cancer.

关键词：哺乳动物基因变化癌病小径多重 rapamycin 雌激素受体断层摄影术

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The prognostic landscape of genes and infiltrating immune cells in cytokine induced killer cell treated-lung squamous cell carcinoma and adenocarcinoma

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Cancer Biology & Medicine 2021年第4期18卷 1134-1147页

作者： Jian Wang Fan Yang Qian Sun Ziqing Zeng Min Liu Wenwen yu Peng Zhang jinpu yu Lili Yang Xinwei Zhang Xiubao Ren Feng Wei Department of Immunology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin’s Clinical Research Center for CancerKey Laboratory of Cancer Immunology and BiotherapyTianjin 300060China Department of Biotherapy Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin’s Clinical Research Center for CancerKey Laboratory of Cancer Immunology and BiotherapyTianjin 300060China Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerKey Laboratory of Cancer Prevention and TherapyTianjinTianjin’s Clinical Research Center for CancerKey Laboratory of Cancer Immunology and BiotherapyTianjin 300060China

Objective:Patients with non–small cell lung cancer(NSCLC)respond differently to cytokine-induced killer cell(CIK)treatment.Therefore,potential prognostic markers to identify patients who would benefit from CIK treatment must be elucidated.The current research aimed at identifying predictive prognostic markers for efficient CIK treatment of patients with NSCLC.Methods:Patients histologically diagnosed with NSCLC were enrolled from the Tianjin Medical University Cancer Institute and Hospital.We performed whole-exome sequencing(WES)on the tumor tissues and paired adjacent benign tissues collected from 50 patients with NSCLC,and RNA-seq on tumor tissues of 17 patients with NSCLC before CIK immunotherapy treatment.Multivariate Cox proportional hazard regression analysis was used to analyze the association between clinical parameters and prognostic relevance.WES and RNA-seq data between lung squamous cell carcinoma(SCC)and adenocarcinoma(Aden)were analyzed and compared.Results:The pathology subtype of lung cancer was the most significantly relevant clinical parameter associated with DFS,as analyzed by multivariate Cox proportional hazard regression(P=0.031).The patients with lung SCC showed better CIK treatment efficacy and extended DFS after CIK treatment.Relatively low expression of HLA class II genes and checkpoint molecules,and less immunosuppressive immune cell infiltration were identified in the patients with lung SCC.Conclusions:Coordinated suppression of the expression of HLA class II genes and checkpoint molecules,as well as less immune suppressive cell infiltration together contributed to the better CIK treatment efficacy in lung SCC than lung Aden.

关键词： NSCLC CIK treatment DFS HLA class II infiltrating immune cells

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RYR1基因突变和表达异常在胃癌发生发展中作用机制研究

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中国肿瘤临床 2024年第6期51卷 271-280页

作者：刘晨冉程亚楠王妍尉迟之光于津浦天津医科大学肿瘤医院肿瘤分子诊断中心国家恶性肿瘤临床医学研究中心天津市恶性肿瘤临床医学研究中心天津市"肿瘤防治"重点实验室天津市肿瘤免疫与生物治疗重点实验室天津市300060 天津大学药物科学与技术学院

目的:探讨RYR1基因与胃癌发生发展的相关性以及RYR1促进胃癌恶性进展的作用机制。方法:分析TCGA数据库胃癌患者数据,并回顾性选取2010年12月至2012年12月就诊于天津医科大学肿瘤医院的81例胃癌患者的组织样本进行高通量靶向测序和转录... 详细信息

目的:探讨RYR1基因与胃癌发生发展的相关性以及RYR1促进胃癌恶性进展的作用机制。方法:分析TCGA数据库胃癌患者数据,并回顾性选取2010年12月至2012年12月就诊于天津医科大学肿瘤医院的81例胃癌患者的组织样本进行高通量靶向测序和转录组测序(TJMUCH队列),收集临床病理信息,比较RYR1基因突变与表达之间相关性,分析RYR1基因对胃癌患者预后的影响,构建RYR1过表达细胞系探索RYR1促进胃癌发生发展的作用机制。结果:在TCGA数据库胃癌患者中,亚洲人群RYR1突变率更高(12.68%vs. 8.13%),在TJMUCH队列胃癌患者中,RYR1基因突变率位于第9位,突变率为33.33%。RYR1突变与表达水平显著负相关(P=0.006 9,P<0.000 1),但RYR1高表达患者的总生存期显著差于低表达RYR1患者(P=0.009 0,P=0.042 0)。RYR1的过表达会促进细胞增殖、迁移、侵袭,减少凋亡,且可下调胃癌细胞对化疗药物的敏感性。抑制RYR1介导的钙离子过度释放可以抑制其恶性生物学行为,并逆转化疗耐药。结论:RYR1基因在亚洲胃癌患者中突变率较高,RYR1突变与表达水平显著负相关,RYR1高表达是胃癌新的预后预测标志物。RYR1过表达可增加内质网钙离子释放而促进胃癌恶性进展,并产生化疗抵抗。靶向阻断RYR1活性可抑制胃癌细胞的增殖、迁移和侵袭,并逆转化疗药抵抗,为胃癌的联合治疗提供新思路。

关键词：胃癌 RYR1基因基因突变基因表达钙离子

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海洋一号卫星观测任务规划算法设计及系统应用

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中国空间科学技术（中英文） 2024年第2期44卷 145-153页

作者：陈旺邵庆龙周晓刘金普兰友国余伟胡玉新中国科学院空天信息创新研究院北京100190 齐鲁空天信息研究院济南250132 国家卫星海洋应用中心北京100081

针对海洋一号卫星观测任务规划需求,提出并实现了基于遗传策略的任务规划框架,解决了卫星实际使用中成像任务受卫星其他业务影响的多类型约束成像规划问题。基于海洋一号卫星实际规划业务要求,对任务规划约束和优化目标建立数学模型,提... 详细信息

针对海洋一号卫星观测任务规划需求,提出并实现了基于遗传策略的任务规划框架,解决了卫星实际使用中成像任务受卫星其他业务影响的多类型约束成像规划问题。基于海洋一号卫星实际规划业务要求,对任务规划约束和优化目标建立数学模型,提出了由预处理、窗口约束处理和组合约束处理与优化组成的三阶段规划框架。设计了多约束任务规划优化目标函数,并利用交叉、变异和种群选择等遗传机制对优化问题进行了求解。基于海洋一号卫星实际观测需求数据,对提出的算法进行了有效性和性能验证,结果表明本算法能够给出满足多类型约束的观测规划方案,并在观测时间、观测覆盖率等方面较其他策略有显著提升。研究结果表明通过优化目标函数的设计遗传算法能够实现复杂约束条件的成像规划求解,算法框架可为与海洋卫星具有相似业务特点的对地观测规划系统设计提供借鉴。

关键词：海洋一号卫星对地观测多约束优化成像任务规划遗传算法

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Interpretation of breast cancer screening guideline for Chinese women

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Cancer Biology & Medicine 2019年第4期16卷 825-835页

作者： yubei Huang Zhongsheng Tong Kexin Chen Ying Wang Peifang Liu Lin Gu Juntian Liu jinpu yu Fengju Song Wenhua Zhao Yehui Shi Hui Li Huaiyuan Xiao Xishan Hao Department of Epidemiology and Statistics Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Medicine Department of Breast Oncology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China China Anti-Cancer Association Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Department of Breast Imaging Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China The 2nd Surgery Department of Breast Oncology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Cancer Prevention Center Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Department of Gastrointestinal Cancer Biology Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China Department of Research and Education Tianjin Medical University Cancer Institute and HospitalNational Clinical Research Center for CancerTianjin 300060China

Breast cancer is the most common malignant tumor in Chinese women.Early screening is the best way to improve the rates of early diagnosis and survival of breast cancer patients.The peak onset age for breast cancer in Chinese women is considerably younger than those in European and American women.It is imperative to develop breast cancer screening guideline that is suitable for Chinese women.By summarizing the current evidence on breast cancer screening in Chinese women,and referring to the latest guidelines and consensus on breast cancer screening in Europe,the United States,and East Asia,the China Anti-Cancer Association and National Clinical Research Center for Cancer(Tianjin Medical University Cancer Institute and Hospital)have formulated population-based guideline for breast cancer screening in Chinese women.The guideline provides recommendations on breast cancer screening for Chinese women at average or high risk of breast cancer according to the following three aspects:age of screening,screening methods,and screening interval.This article provides more detailed information to support the recommendations in this guideline and to provide more direction for current breast cancer screening practices in China.

关键词： Breast cancer screening ultrasound mammography guideline

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基于表型性状的不同梨品种遗传多样性分析

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山东农业科学 2024年第2期56卷 30-38页

作者：白玉娥李今普师鹏飞王荣学高颖胡志健杨荣内蒙古农业大学林学院内蒙古呼和浩特010010 内蒙古自治区林业科学研究院内蒙古呼和浩特010010 巴彦淖尔市沙漠综合治理中心内蒙古巴彦淖尔015000

为选育适合内蒙古自治区种植的优良梨品种并开发新品种,本试验以保存于内蒙古巴彦淖尔市梨树资源圃的18个梨品种的140个单株为研究对象,基于表型性状中的9个质量性状和19个数量性状,利用Shannon-Weiner多样性指数、变异系数、主成分分析... 详细信息

为选育适合内蒙古自治区种植的优良梨品种并开发新品种,本试验以保存于内蒙古巴彦淖尔市梨树资源圃的18个梨品种的140个单株为研究对象,基于表型性状中的9个质量性状和19个数量性状,利用Shannon-Weiner多样性指数、变异系数、主成分分析及Q型和R型聚类分析,对梨种质的遗传多样性进行研究。结果表明,所调查梨品种的质量性状与数量性状的变异系数分别在11.78%~64.72%和9.28~59.54%之间,多样性指数分别在0.22~1.33和0.35~1.53之间,表明梨种质资源具有极其丰富的表型多样性。利用主成分分析法从所调查的28个表型性状中提取出10个主成分,特征值均大于1,累积贡献率为74.26%,其中果实形态是导致梨品种差异的最重要指标。利用R型聚类对28个表型性状进行聚类分析,在遗传距离15处可将其分为19个类群,各类群之间距离较远,说明各性状分布较散,相关性较低,可以更好地反映不同品种的差异。利用筛选出的性状进行Q型聚类分析发现,品种间的表型差异与种源地有着一定关系,不同种源地的部分品种被聚为一类。本研究结果可为高效利用梨种质资源改良现有品种并选育新品种提供参考。

关键词：梨表型性状遗传多样性主成分分析聚类分析

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2022年夏季广州市一次较长时间O_(3)污染的特征及机理分析

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环境科学学报 2024年第3期44卷 268-277页

作者：黄继章高健何钰清高锐裴成磊宋伟李磊张金谱刘南希葛澳琪余美芳郭昊叶子铭广州市环境保护科学研究院有限公司广州510620 中国环境科学研究院北京100012 广东省广州生态环境监测中心站广州510006 中国科学院广州地球化学研究所广州510630 中山大学大气科学学院珠海519082

2022年夏季广州市经历了一次持续时间较长的臭氧污染过程(7月22日—8月1日).针对此次典型污染事件,本文利用大气常规污染物和挥发性有机物(VOCs)组分数据,以及逐小时气象数据、欧洲中心第5代大气再分析资料(ERA5)等气象数据,对本次污染... 详细信息

2022年夏季广州市经历了一次持续时间较长的臭氧污染过程(7月22日—8月1日).针对此次典型污染事件,本文利用大气常规污染物和挥发性有机物(VOCs)组分数据,以及逐小时气象数据、欧洲中心第5代大气再分析资料(ERA5)等气象数据,对本次污染过程的来源及成因进行了解析,进而研究了天气系统、气象要素及区域传输过程对本次臭氧污染事件的影响.结果表明:在污染期间烷烃和芳香烃对VOCs浓度的贡献最大,工业源及溶剂挥发排放源是造成广州市中心城区污染的重要原因;此外,本次污染过程中广州长时间处于副热带高压控制的下沉气流区,由此产生的局地高温低湿、强辐射等气象条件为臭氧的生成、累积及其污染的持续创造了条件;广州市臭氧分布不仅受本地源的影响,还受区域传输影响;不利气象条件下需要建立区域联防联控机制以减少污染.

关键词：广州臭氧污染过程区域传输

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