The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Oncology
Link
http://link.springer.com/content/pdf/10.1007/s10549-020-06066-7.pdf
Reference45 articles.
1. Pittman DL, Weinberg LR, Schimenti JC (1998) Identification, characterization, and genetic mapping of Rad51d, a new mouse and human RAD51/RecA-related gene. Genomics 49(1):103–111. https://doi.org/10.1006/geno.1998.5226
2. Kim YM, Choi BS (2011) Structural and functional characterization of the N-terminal domain of human Rad51D. Int J Biochem Cell Biol 43(3):416–422. https://doi.org/10.1016/j.biocel.2010.11.014
3. Braybrooke JP, Li JL, Wu L, Caple F, Benson FE, Hickson ID (2003) Functional interaction between the Bloom’s syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D). J Biol Chem 278(48):48357–48366. https://doi.org/10.1074/jbc.M308838200
4. Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC (2001) Identification and purification of two distinct complexes containing the five RAD51 paralogs. Genes Dev 15(24):3296–3307. https://doi.org/10.1101/gad.947001
5. Chun J, Buechelmaier ES, Powell SN (2013) Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway. Mol Cell Biol 33(2):387–395. https://doi.org/10.1128/MCB.00465-12
Cited by 2 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. Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond;DNA Repair;2023-10
2. In Silico-Based Structural Evaluation to Categorize the Pathogenicity of Mutations Identified in the RAD Class of Proteins;ACS Omega;2023-03-08
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