Accurate germline RUNX1 variant interpretation and its clinical significance.
作者信息
Feurstein Simone, Zhang Liying, DiNardo Courtney D
机构信息
Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL.
Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA; and.
出版信息
Blood Adv. 2020 Dec 22;4(24):6199-6203. doi: 10.1182/bloodadvances.2020003304.
Abstract
摘要
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本文引用的文献
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High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.RUNX1 突变型 AML 患者中胚系 RUNX1 突变的高频发生。
Blood. 2020 May 21;135(21):1882-1886. doi: 10.1182/blood.2019003357.
2
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for variant curation for germline predisposition to myeloid malignancies.我的筛选方法：应用美国血液学会-临床基因组资源髓系恶性肿瘤变异筛选专家小组的规则对髓系恶性肿瘤的种系易感性变异进行筛选。
Haematologica. 2020 Apr;105(4):870-887. doi: 10.3324/haematol.2018.214221. Epub 2020 Mar 12.
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Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.ClinVar 中的再分类数据：“可能致病”真的有 90%的可能性吗？
Genome Med. 2019 Nov 21;11(1):72. doi: 10.1186/s13073-019-0688-9.
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.ClinGen 髓系恶性肿瘤变异体校正专家组关于胚系 RUNX1 变异体的建议。
Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644.
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Hereditary myeloid malignancies.遗传性髓系恶性肿瘤。
Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3.
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.ClinGen 变异体管理专家小组在疾病和基因水平上规范 ACMG/AMP 序列变异解释指南的经验和标准化流程。
Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.解读 ACMG/AMP 失能性预测标准的 PVS1 变异准则的建议。
Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7.
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Cancer. 2018 Jul 1;124(13):2704-2713. doi: 10.1002/cncr.31331. Epub 2018 Apr 6.
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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.将 ACMG/AMP 变异分类指南建模为贝叶斯分类框架。
Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.
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A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.一组遗传性骨髓衰竭患者的种系突变景观。
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.
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