Germ line JAK2 variants and hereditary blood cancers.
作者信息
Cannova Joseph, Drazer Michael W
机构信息
Section of Hematology/Oncology, The University of Chicago, Chicago, IL.
Section of Genetic Medicine, The University of Chicago, Chicago, IL.
出版信息
Blood Adv. 2025 Apr 8;9(7):1585-1586. doi: 10.1182/bloodadvances.2025015810.
Abstract
摘要
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本文引用的文献
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JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.与遗传性血小板增多症和血液系统肿瘤相关的JAK2 p.R564种系变体。
Blood Adv. 2025 Apr 8;9(7):1534-1543. doi: 10.1182/bloodadvances.2024013661.
2
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.干细胞移植背景下遗传性造血系统恶性肿瘤的快速评估
Haematologica. 2024 Nov 1;109(11):3739-3744. doi: 10.3324/haematol.2023.284584.
3
Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.使用从指甲剪屑中分离的DNA对血液系统恶性肿瘤患者进行全生殖系基因检测。
Haematologica. 2024 Oct 1;109(10):3383-3390. doi: 10.3324/haematol.2024.285055.
4
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.美国国立综合癌症网络（NCCN）指南见解：遗传/家族性高风险评估：乳腺癌、卵巢癌和胰腺癌，2024年第2版
J Natl Compr Canc Netw. 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051.
5
Clinical guideline variability in the diagnosis of hereditary hematopoietic malignancy syndromes.遗传性血液恶性肿瘤综合征诊断中的临床指南变异性。
Leuk Lymphoma. 2023 Sep;64(9):1562-1565. doi: 10.1080/10428194.2023.2220457. Epub 2023 Jun 9.
6
Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies.遗传性血液系统恶性肿瘤诊断中下一代测序检测质量的停滞不前。
J Genet Couns. 2023 Jun;32(3):744-749. doi: 10.1002/jgc4.1672. Epub 2023 Jan 15.
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Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.检测造血系统恶性肿瘤胚系风险变异的诊断检测技术异质性评估。
Genet Med. 2021 Jan;23(1):211-214. doi: 10.1038/s41436-020-0934-y. Epub 2020 Aug 18.
8
A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.一种新的激活、种系 JAK2 突变 JAK2R564Q，导致家族性原发性血小板增多症。
Blood. 2014 Feb 13;123(7):1059-68. doi: 10.1182/blood-2012-12-473777. Epub 2013 Dec 31.
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