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在TCGA黑色素瘤数据集中鉴定与不良预后相关的细胞骨架相关和粘附相关编码区突变集。

Identification of Sets of Cytoskeletal Related and Adhesion-related Coding Region Mutations in the TCGA Melanoma Dataset that Correlate with a Negative Outcome.

作者信息

Yavorski John M, Stoll Rebecca J, Samy Mohammad D, Mauro James A, Blanck George

机构信息

1Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA; 2Immunology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.

出版信息

Curr Genomics. 2017 Jun;18(3):287-297. doi: 10.2174/1389202918666170105093953.

DOI:10.2174/1389202918666170105093953
PMID:28659724
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5476947/
Abstract

BACKGROUND

Relatively little cancer genome atlas data has been associated with clinically relevant stratifications of individual cancers.

RESULTS

Mutations in two subsets of a cytoskeletal related and adhesion-related protein coding region set (CAPCRs) were determined to have strong associations with a negative outcome for melanoma, in-cluding a subset constituted by: DSCAM, FAT3, MUC17 and PCDHGC5 (p < 0.0001).

CONCLUSION

Roles for CAPCR mutations in cancer progression raise a question about the potential dominant negative impact of these mutations for multi-meric subcellular and extra-cellular protein struc-tures.

摘要

背景

相对较少的癌症基因组图谱数据与个体癌症的临床相关分层相关联。

结果

确定细胞骨架相关和粘附相关蛋白质编码区域集（CAPCRs）的两个子集的突变与黑色素瘤的不良预后密切相关，包括由DSCAM、FAT3、MUC17和PCDHGC5组成的子集（p < 0.0001）。

结论

CAPCR突变在癌症进展中的作用引发了一个问题，即这些突变对多聚体亚细胞和细胞外蛋白质结构可能产生的显性负性影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/70577ac39945/CG-18-287_F4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/f9f6fd406bc5/CG-18-287_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/97b16b440d0a/CG-18-287_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/94af3d8c2708/CG-18-287_F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/70577ac39945/CG-18-287_F4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/f9f6fd406bc5/CG-18-287_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/97b16b440d0a/CG-18-287_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/94af3d8c2708/CG-18-287_F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182b/5476947/70577ac39945/CG-18-287_F4.jpg

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本文引用的文献

1
A Novel Approach to Evaluating Cancer Driver Gene Mutation Densities: Cytoskeleton-related Gene Candidates.一种评估癌症驱动基因突变密度的新方法：细胞骨架相关基因候选物。
Cancer Genomics Proteomics. 2015 Nov-Dec;12(6):283-90.
2
Flat cells come full sphere: Are mutant cytoskeletal-related proteins oncoprotein-monsters or useful immunogens?扁平细胞变成完整球体：突变的细胞骨架相关蛋白是癌蛋白怪物还是有用的免疫原？
Hum Vaccin Immunother. 2016;12(1):120-3. doi: 10.1080/21645515.2015.1073428. Epub 2015 Jul 30.
3
Anticipating designer drug-resistant cancer cells.
调控元件中的体细胞同义突变导致黑色素瘤的遗传病因。
BMC Med Genomics. 2020 Apr 3;13(Suppl 5):43. doi: 10.1186/s12920-020-0685-2.
预测设计药物耐药性癌细胞。
Drug Discov Today. 2015 Jul;20(7):790-3. doi: 10.1016/j.drudis.2015.02.005. Epub 2015 Feb 16.
4
Cancer systems biology of TCGA SKCM: efficient detection of genomic drivers in melanoma.TCGA皮肤黑色素瘤的癌症系统生物学：黑色素瘤中基因组驱动因素的有效检测
Sci Rep. 2015 Jan 20;5:7857. doi: 10.1038/srep07857.
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Big genes are big mutagen targets: a connection to cancerous, spherical cells?大基因是大诱变靶点：与癌细胞的球形有联系？
Cancer Lett. 2015 Jan 28;356(2 Pt B):479-82. doi: 10.1016/j.canlet.2014.09.044. Epub 2014 Oct 16.
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Signal persistence and amplification in cancer development and possible, related opportunities for novel therapies.癌症发展中的信号持续和放大以及新型疗法的潜在相关机会。
Biochim Biophys Acta. 2015 Jan;1855(1):18-23. doi: 10.1016/j.bbcan.2014.11.001. Epub 2014 Nov 7.
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