Felipe Batalini, Ellie G. Peacock, Lindsey Stobie, Alison Robertson, J. Garber, J. Weitzel, N. Tung
{"title":"Li-Fraumeni综合征:不再是一种简单的诊断——解释低等位基因频率的致病变异以及种系pv、嵌合体和克隆造血之间的差异","authors":"Felipe Batalini, Ellie G. Peacock, Lindsey Stobie, Alison Robertson, J. Garber, J. Weitzel, N. Tung","doi":"10.1186/s13058-019-1193-1","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":9222,"journal":{"name":"Breast Cancer Research","volume":"41 1","pages":""},"PeriodicalIF":6.1000,"publicationDate":"2019-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"49","resultStr":"{\"title\":\"Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis\",\"authors\":\"Felipe Batalini, Ellie G. Peacock, Lindsey Stobie, Alison Robertson, J. Garber, J. Weitzel, N. Tung\",\"doi\":\"10.1186/s13058-019-1193-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":9222,\"journal\":{\"name\":\"Breast Cancer Research\",\"volume\":\"41 1\",\"pages\":\"\"},\"PeriodicalIF\":6.1000,\"publicationDate\":\"2019-09-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"49\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Breast Cancer Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13058-019-1193-1\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Breast Cancer Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13058-019-1193-1","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis
期刊介绍:
Breast Cancer Research is an international, peer-reviewed online journal, publishing original research, reviews, editorials and reports. Open access research articles of exceptional interest are published in all areas of biology and medicine relevant to breast cancer, including normal mammary gland biology, with special emphasis on the genetic, biochemical, and cellular basis of breast cancer. In addition to basic research, the journal publishes preclinical, translational and clinical studies with a biological basis, including Phase I and Phase II trials.