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RNA Sequencing Provides Evidence for Pathogenicity of a Novel Splice Variant (C.1009-7T>G).

作者信息

Na Rae, Hong Jinyoung, Gu Hyunjung, Lee Woochang, Lee Jae-Lyun, Chun Sail, Min Won-Ki

机构信息

Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Department of Oncology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2022 May 1;42(3):380-383. doi: 10.3343/alm.2022.42.3.380.

DOI:10.3343/alm.2022.42.3.380
PMID:34907112
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8677473/
Abstract
摘要

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本文引用的文献

1
Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.癌症易感性中的种系变异：僵局而非决胜局。
Cells. 2020 Dec 12;9(12):2675. doi: 10.3390/cells9122675.
2
Olaparib for Metastatic Castration-Resistant Prostate Cancer.奥拉帕利治疗转移性去势抵抗性前列腺癌。
N Engl J Med. 2020 May 28;382(22):2091-2102. doi: 10.1056/NEJMoa1911440. Epub 2020 Apr 28.
3
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.使用 ACMG/AMP 序列变异解读框架推荐功能证据 PS3/BS3 标准的应用。
Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.
4
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.在酿酒酵母系统中对 CHEK2 变体进行功能表征。
Hum Mutat. 2019 May;40(5):631-648. doi: 10.1002/humu.23728. Epub 2019 Mar 9.
5
Splicing mutations in human genetic disorders: examples, detection, and confirmation.人类遗传疾病中的剪接突变：实例、检测与确认
J Appl Genet. 2018 Aug;59(3):253-268. doi: 10.1007/s13353-018-0444-7. Epub 2018 Apr 21.
6
A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.对前列腺癌男性患者CHEK2基因种系突变的综合评估。
Prostate. 2018 Jun;78(8):607-615. doi: 10.1002/pros.23505. Epub 2018 Mar 9.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
In silico prediction of splice-altering single nucleotide variants in the human genome.人类基因组中剪接改变单核苷酸变异的计算机模拟预测
Nucleic Acids Res. 2014 Dec 16;42(22):13534-44. doi: 10.1093/nar/gku1206.
9
CHEK2 is a multiorgan cancer susceptibility gene.CHEK2是一种多器官癌症易感基因。
Am J Hum Genet. 2004 Dec;75(6):1131-5. doi: 10.1086/426403. Epub 2004 Oct 18.