Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer;Castilla;Nat Genet,1994
2. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance;Chenevix-Trench;Cancer Res,2006
3. Assessment of functional effects of unclassified genetic variants;Couch;Hum Mutat,2008
4. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes;Easton;Am J Hum Genet,2007
5. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals;Frank;J Clin Oncol,2002
Cited by 74 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Functional analysis of MMR gene VUS from potential Lynch syndrome patients;PLOS ONE;2024-06-06
2. SIUrO best practice recommendations to optimize BRCA 1/2 gene testing from DNA extracted from bone biopsy in mCRPC patients (BRCA Optimal Bone Biopsy Procedure: BOP);Virchows Archiv;2023-10-05
3. Matching BRCA and prostate cancer in a public health system: Report of the Italian Society for Uro-Oncology (SIUrO) consensus project;Critical Reviews in Oncology/Hematology;2023-04
4. Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine;Frontiers in Oncology;2023-01-18
5. Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer;PLOS ONE;2022-12-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3