{"title":"骨髓增生异常综合征两兄妹的胚系MYOF1::WNK4和VPS25::MYOF1嵌合体由染色体t(17;19)(q21;p13)转位产生。","authors":"Ioannis Panagopoulos, Kristin Andersen, Vidar Stavseth, Synne Torkildsen, Sverre Heim, Maren Randi Tandsæther","doi":"10.21873/cgp.20446","DOIUrl":null,"url":null,"abstract":"Constitutional chromosomal aberrations are rare in hematologic malignancies and their pathogenetic role is mostly poorly understood. We present a comprehensive molecular characterization of a novel constitutional chromosomal translocation found in two siblings - sisters - diagnosed with myelodysplastic syndrome (MDS).","PeriodicalId":9516,"journal":{"name":"Cancer Genomics & Proteomics","volume":"41 1","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2024-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Germline MYOF1::WNK4 and VPS25::MYOF1 Chimeras Generated by the Constitutional Translocation t(17;19)(q21;p13) in Two Siblings With Myelodysplastic Syndrome.\",\"authors\":\"Ioannis Panagopoulos, Kristin Andersen, Vidar Stavseth, Synne Torkildsen, Sverre Heim, Maren Randi Tandsæther\",\"doi\":\"10.21873/cgp.20446\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Constitutional chromosomal aberrations are rare in hematologic malignancies and their pathogenetic role is mostly poorly understood. We present a comprehensive molecular characterization of a novel constitutional chromosomal translocation found in two siblings - sisters - diagnosed with myelodysplastic syndrome (MDS).\",\"PeriodicalId\":9516,\"journal\":{\"name\":\"Cancer Genomics & Proteomics\",\"volume\":\"41 1\",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-04-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cancer Genomics & Proteomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.21873/cgp.20446\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Genomics & Proteomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.21873/cgp.20446","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Germline MYOF1::WNK4 and VPS25::MYOF1 Chimeras Generated by the Constitutional Translocation t(17;19)(q21;p13) in Two Siblings With Myelodysplastic Syndrome.
Constitutional chromosomal aberrations are rare in hematologic malignancies and their pathogenetic role is mostly poorly understood. We present a comprehensive molecular characterization of a novel constitutional chromosomal translocation found in two siblings - sisters - diagnosed with myelodysplastic syndrome (MDS).
期刊介绍：
Cancer Genomics & Proteomics (CGP) is an international peer-reviewed journal designed to publish rapidly high quality articles and reviews on the application of genomic and proteomic technology to basic, experimental and clinical cancer research. In this site you may find information concerning the editorial board, editorial policy, issue contents, subscriptions, submission of manuscripts and advertising. The first issue of CGP circulated in January 2004.
Cancer Genomics & Proteomics is a journal of the International Institute of Anticancer Research. From January 2013 CGP is converted to an online-only open access journal.
Cancer Genomics & Proteomics supports (a) the aims and the research projects of the INTERNATIONAL INSTITUTE OF ANTICANCER RESEARCH and (b) the organization of the INTERNATIONAL CONFERENCES OF ANTICANCER RESEARCH.
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