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The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders 液体活检在癌症和单基因镶嵌性疾病临床基因诊断中的作用
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2066
A. Hallermayr, T. Keßler, V. Steinke-Lange, Ellen Heitzer, E. Holinski-Feder, Michael Speicher
{"title":"The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders","authors":"A. Hallermayr, T. Keßler, V. Steinke-Lange, Ellen Heitzer, E. Holinski-Feder, Michael Speicher","doi":"10.1515/medgen-2023-2066","DOIUrl":"https://doi.org/10.1515/medgen-2023-2066","url":null,"abstract":"Abstract Liquid biopsy for minimally invasive diagnosis and monitoring of cancer patients is progressing toward routine clinical practice. With the implementation of highly sensitive next-generation sequencing (NGS) based assays for the analysis of cfDNA, however, consideration of the utility of liquid biopsy for clinical genetic testing is critical. While the focus of liquid biopsy for cancer diagnosis is the detection of circulating tumor DNA (ctDNA) as a fraction of total cell-free DNA (cfDNA), cfDNA analysis reveals both somatic mosaic tumor and germline variants and clonal hematopoiesis. Here we outline advantages and limitations of mosaic and germline variant detection as well as the impact of clonal hematopoiesis on liquid biopsy in cancer diagnosis. We also evaluate the potential of cfDNA analysis for the molecular diagnosis of monogenic mosaic disorders.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"48 1","pages":"275 - 284"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139210106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Die GfH-Juniorakademie 2023 – #GfHJAK23 @schlossbuchenau 2023 年 GfH 青少年学院 - #GfHJAK23 @schlossbuchenau
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2058
I. Krey, Simone Ahting, A. Forstner, Maria Korte, R. Meyer, F. Schnabel, Daniel Pieh, Maike Karnstedt
{"title":"Die GfH-Juniorakademie 2023 – #GfHJAK23 @schlossbuchenau","authors":"I. Krey, Simone Ahting, A. Forstner, Maria Korte, R. Meyer, F. Schnabel, Daniel Pieh, Maike Karnstedt","doi":"10.1515/medgen-2023-2058","DOIUrl":"https://doi.org/10.1515/medgen-2023-2058","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"6 1","pages":"327 - 330"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139210212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ein Geburtstagsgruß für Hans-Hilger Ropers 为汉斯-希尔格-罗珀斯送上生日祝福
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2067
T. Wienker
{"title":"Ein Geburtstagsgruß für Hans-Hilger Ropers","authors":"T. Wienker","doi":"10.1515/medgen-2023-2067","DOIUrl":"https://doi.org/10.1515/medgen-2023-2067","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"303 - 305"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139211967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nachruf Prof. Dr. med. Michael Speicher 讣告 迈克尔-施佩歇博士教授
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2063
Sarah Verheyen, Ellen Heitzer, J. Geigl
{"title":"Nachruf Prof. Dr. med. Michael Speicher","authors":"Sarah Verheyen, Ellen Heitzer, J. Geigl","doi":"10.1515/medgen-2023-2063","DOIUrl":"https://doi.org/10.1515/medgen-2023-2063","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"26 1","pages":"297 - 298"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nachruf Prof. Dr. med. Wilko Weichert 威尔科-魏切特博士教授的讣告
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2047
B. Schlegelberger
{"title":"Nachruf Prof. Dr. med. Wilko Weichert","authors":"B. Schlegelberger","doi":"10.1515/medgen-2023-2047","DOIUrl":"https://doi.org/10.1515/medgen-2023-2047","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"77 1","pages":"301 - 301"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139215003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tagungsbericht SSIEM Jahrestagung vom 29.08.2023 bis 01.09.2023 in Jerusalem 会议报告 SSIEM 年会，2023 年 8 月 29 日至 2023 年 9 月 1 日，耶路撒冷
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2044
L. D. Schlieben
{"title":"Tagungsbericht SSIEM Jahrestagung vom 29.08.2023 bis 01.09.2023 in Jerusalem","authors":"L. D. Schlieben","doi":"10.1515/medgen-2023-2044","DOIUrl":"https://doi.org/10.1515/medgen-2023-2044","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"19 1","pages":"331 - 332"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Liquid biopsies and those three little words: finding the perfect match for the MTB 液体活检和这三个小词：为山地车寻找完美匹配
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2064
A. Wahida, L. Buschhorn
{"title":"Liquid biopsies and those three little words: finding the perfect match for the MTB","authors":"A. Wahida, L. Buschhorn","doi":"10.1515/medgen-2023-2064","DOIUrl":"https://doi.org/10.1515/medgen-2023-2064","url":null,"abstract":"Abstract Monitoring ctDNA by liquid biopsies seems to represent the perfect match for precision oncology and its cornerstone clinical framework: the molecular tumour board (MTB). Detecting and scrutinising the success of targeted therapies or tracking and, for that matter, addressing the therapy with the evolutive nature of a tumour are some of the main advancements one considers to be important for the MTB. One challenge is correlating the estimated allele frequency of each identified genetic alteration determined by analysing the ctDNA sequencing results and matching these with the range of suitable drugs, which may limit the simultaneous treatment of all tumour variations. This limitation arises because a new biopsy would typically be required to evaluate the response to treatment. As a result, evaluating the success of MTB recommendations relies on traditional staging methods, highlighting an existing diagnostic gap. Thus, optimising liquid biopsy technology could enhance the efficacy of MTB treatment recommendations and ensuing tailored therapies. Herein, we discuss the prospect of ctDNA analyses in the molecular tumour board.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"42 1","pages":"269 - 273"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nachruf Prof. Dr. rer. nat. Jeanette Erdmann 讣告 Jeanette Erdmann 博士教授
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2046
M. Nöthen, Malte Spielmann
{"title":"Nachruf Prof. Dr. rer. nat. Jeanette Erdmann","authors":"M. Nöthen, Malte Spielmann","doi":"10.1515/medgen-2023-2046","DOIUrl":"https://doi.org/10.1515/medgen-2023-2046","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"42 1","pages":"299 - 300"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Frank-Majewski-Preisträgerin 2023 2023 年弗兰克-马耶夫斯基奖获得者
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2052
{"title":"Frank-Majewski-Preisträgerin 2023","authors":"","doi":"10.1515/medgen-2023-2052","DOIUrl":"https://doi.org/10.1515/medgen-2023-2052","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"20 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tagungsbericht Kongress für Kinder- und Jugendmedizin 20. bis 23. September 2023 in Hamburg 会议报告 2023 年 9 月 20 日至 23 日在汉堡举行的儿科和青少年医学大会
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2051
{"title":"Tagungsbericht Kongress für Kinder- und Jugendmedizin 20. bis 23. September 2023 in Hamburg","authors":"","doi":"10.1515/medgen-2023-2051","DOIUrl":"https://doi.org/10.1515/medgen-2023-2051","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"19 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139215010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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