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Humangenetik: Leistungsbegrenzung durch Kürzung der Vergütung - das ist nicht der richtige Weg!: Genetisch bedingte Erkrankungen treten nicht häufiger auf, sie werden nur schneller und besser diagnostiziert. Wollen wir das den PatientInnen vorenthalten? 人类遗传学：通过减少工资来限制性能——这不是正确的方法！：与基因有关的疾病并不常见，只是诊断得更快更好。我们想剥夺病人的权利吗？
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2039
{"title":"Humangenetik: Leistungsbegrenzung durch Kürzung der Vergütung - das ist nicht der richtige Weg!: Genetisch bedingte Erkrankungen treten nicht häufiger auf, sie werden nur schneller und besser diagnostiziert. Wollen wir das den PatientInnen vorenthalten?","authors":"","doi":"10.1515/medgen-2025-2039","DOIUrl":"10.1515/medgen-2025-2039","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"347"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ein Geburtstagsgruß für Thomas Cremer zum 80. Geburtstag. 托马斯·克里默80岁生日问候。.生日
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2031
Markus M Nöthen
{"title":"Ein Geburtstagsgruß für Thomas Cremer zum 80. Geburtstag.","authors":"Markus M Nöthen","doi":"10.1515/medgen-2025-2031","DOIUrl":"10.1515/medgen-2025-2031","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"341-342"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Targeted therapy in patients with genetic tumor syndromes. 遗传性肿瘤综合征患者的靶向治疗。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2045
Arne Jahn, Christoph Heining, Stefan Fröhling, Hanno Glimm, Evelin Schröck
{"title":"Targeted therapy in patients with genetic tumor syndromes.","authors":"Arne Jahn, Christoph Heining, Stefan Fröhling, Hanno Glimm, Evelin Schröck","doi":"10.1515/medgen-2025-2045","DOIUrl":"10.1515/medgen-2025-2045","url":null,"abstract":"<p><p>Significant progress in comprehensive molecular diagnostics and targeted therapies for advanced malignancies has, in part, led to substantial improvements in patient outcomes. Nevertheless, comprehensive genomic profiling necessitates interdisciplinary discussion of potential clinical recommendations within interdisciplinary molecular tumor boards. (Likely) pathogenic germline variants (PGVs) typically warrant genetic counseling for patients and, where appropriate, their relatives. Concurrently, the rapidly expanding availability of targeted therapies introduces new therapeutic implications based on germline alterations that must be integrated into clinical decision-making. Moreover, the identification of PGVs may not only inform therapy in patients with manifest malignancy but also offer opportunities for targeted chemoprevention.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"321-335"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Die Inanspruchnahme des nicht-invasiven Pränataltests (NIPT) in Deutschland folgt dem Altersrisiko. 在德国，非侵入性产前检查（NIPT）的使用遵循年龄风险。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2033
Michael Krawczak, Bernd Eiben, Jörg Schmidtke
{"title":"Die Inanspruchnahme des nicht-invasiven Pränataltests (NIPT) in Deutschland folgt dem Altersrisiko.","authors":"Michael Krawczak, Bernd Eiben, Jörg Schmidtke","doi":"10.1515/medgen-2025-2033","DOIUrl":"10.1515/medgen-2025-2033","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"337-339"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Towards a WHO classification of genetic tumour syndromes. 世界卫生组织对遗传肿瘤综合征的分类。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2029
Reiner Siebert, William D Foulkes
{"title":"Towards a WHO classification of genetic tumour syndromes.","authors":"Reiner Siebert, William D Foulkes","doi":"10.1515/medgen-2025-2029","DOIUrl":"10.1515/medgen-2025-2029","url":null,"abstract":"<p><p>Almost 70 years ago, the World Health Organization (WHO) decided to propose a \"Classification of Tumours\". Since then, a systematic and extensive classification system for tumours has been continuously developed in successive editions and nowadays closely interlinks with coding systems for cancer registries like the International Classification of Diseases for Oncology (ICD-O). Whereas past editions had their focus on histopathological aspects of tumour classification in different organ systems and topologies, to which (somatic) genetic alterations increasingly contributed, the current fifth edition of the WHO Classification for the first time includes a separate \"Blue Book\" volume on \"Genetic Tumour Syndromes\". Along with chapters dedicated to tumour predisposition inferred by constitutional (germline) genetic pathogenic variants in the different organ-specific volumes of the classification, this new addition to the WHO classification highlights the increasing importance of constitutional genetic alterations for the diagnosis and clinical management of patients with such tumours. The WHO classification of Genetic Tumour Syndromes applies a hierarchical system based on four levels: the major (cellular) mechanism affected, the molecular pathway involved, the (clinical) syndrome, and the specific gene(s) affected. It provides - in part novel or modified - names to the genetic tumour syndromes as well as definitions and descriptions of clinical, epidemiologic, etiologic, pathogenetic and pathological aspects. Essential and desirable diagnostic criteria are given as well as rules for reporting, thus paving the way to international standardization. While the final version of the WHO Classification of Genetic Tumour Syndromes is in proof-stage, the present article, which is based on its beta-version, aims to provide an overview of the concepts underpinning the classification.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"257-265"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic tumor syndromes - It's time for action. 遗传肿瘤综合征-是时候采取行动了。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2042
Evelin Schröck, Reiner Siebert
{"title":"Genetic tumor syndromes - It's time for action.","authors":"Evelin Schröck, Reiner Siebert","doi":"10.1515/medgen-2025-2042","DOIUrl":"10.1515/medgen-2025-2042","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"255-256"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preventing adverse drug reactions and more: current clinical use of pharmacogenetic testing. 预防药物不良反应及其他：目前药物遗传检测的临床应用。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2019
Ursula Amstutz
{"title":"Preventing adverse drug reactions and more: current clinical use of pharmacogenetic testing.","authors":"Ursula Amstutz","doi":"10.1515/medgen-2025-2019","DOIUrl":"10.1515/medgen-2025-2019","url":null,"abstract":"<p><p>Genomic variants affecting an individual's response to drug therapies are common in populations worldwide. For clinical use, information on pharmacogenomic variation is translated into genotype-based therapy recommendations in evidence-based clinical practice guidelines for an increasing number of drugs. While clinical pharmacogenetic testing is currently still frequently performed at the level of individual genes, recent evidence highlighted the potential of a panel-based testing approach to substantially reduce the incidence of adverse drug reactions. This review provides background on pharmacogenetics, nomenclature used for reporting pharmacogenetic test results, as well as an overview of available resources for pharmacogenetic test interpretation.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"197-206"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
S1- Leitlinie "Molekulargenetische Diagnostik mit Hochdurchsatz-Sequenzierverfahren (Massives Paralleles Sequenzieren, MPS)". “大规模并行测序（MPS）的分子遗传学诊断”。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2026
{"title":"S1- Leitlinie \"Molekulargenetische Diagnostik mit Hochdurchsatz-Sequenzierverfahren (Massives Paralleles Sequenzieren, MPS)\".","authors":"","doi":"10.1515/medgen-2025-2026","DOIUrl":"10.1515/medgen-2025-2026","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"209-225"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12278366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Regulatorische Vorgaben beanspruchen zunehmend Kapazitäten in humangenetischen Laboren. 监管要求对人类基因实验室的能力提出了越来越大的要求。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2022
{"title":"Regulatorische Vorgaben beanspruchen zunehmend Kapazitäten in humangenetischen Laboren.","authors":"","doi":"10.1515/medgen-2025-2022","DOIUrl":"10.1515/medgen-2025-2022","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"251-252"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
37. Tumorgenetischen Arbeitstagung 2025: 08. bis 10. Mai 2025 in der Messe- und Universitätsstadt Leipzig. 37. 生物医学工程学报，2015-08-08。至10 .2025年5月在莱比锡大学举行。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2021
{"title":"37. Tumorgenetischen Arbeitstagung 2025: 08. bis 10. Mai 2025 in der Messe- und Universitätsstadt Leipzig.","authors":"","doi":"10.1515/medgen-2025-2021","DOIUrl":"10.1515/medgen-2025-2021","url":null,"abstract":"<p><p>The acquisition of subsequent genetic lesions (clonal evolution, CE) and/or the expansion of existing clones (CEXP) contributes to clonal dynamics (CD) in myelodysplastic syndromes (MDS). Although CD plays an important role in high-risk patients in disease progression and transformation into acute myeloid leukemia (AML), knowledge about CD in lower-risk MDS (LR-MDS) patients is limited due to lack of robust longitudinal data considering the long clinically stable courses of the disease. In this retrospective analysis, we delineate the frequency and the prognostic impact of CD in an unselected real-world cohort of LR-MDS patients. We screened 68 patients with a median follow-up of 40.5 months and a median of 7.5 (range: 2-22) timepoints for CE and CEXP detected by chromosomal banding analysis, fluorescence in situ hybridization (FISH), sequencing, and molecular karyotyping. In 30/68 patients, 47 CE events and a CD rate of 1 event per 4 years were documented. Of note, patients with at least 1 CE event had an increased probability for subsequent treatment. Unexpectedly, CE did not correlate with inferior outcome, which could be reasonably explained by CD detection triggering the subsequent start of a disease-modifying therapy (DMT).</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"245-248"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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