Genetic variants as biomarkers for progression and resistance in multiple myeloma.
Genetic variants as biomarkers for progression and resistance in multiple myeloma.
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DOI：
10.1016/j.cancergen.2020.12.001
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发表时间：
2021-04
期刊：
影响因子：
1.9
通讯作者：
Chang SL
中科院分区：
文献类型：
--
作者：
Montel RA;Gregory M;Chu T;Cottrell J;Bitasktsis C;Chang SL
基因组测序的技术进步，特别是全基因组测序（WGS），为在分子水平上理解癌症提供了足够的工具，同时特别关注导致致病性癌症的病因和进展的遗传变异。多发性骨髓瘤（MM）是一种浆细胞恶性疾病，被标记为罕见但不可治愈，可以通过WGS工具诊断，因为这种癌症与染色体易位和特定蛋白质编码基因的突变有关。在这些蛋白质编码基因中，许多已知负责MM中的细胞周期调控。最初在NRAS、KRAS和TP 53中发现了重要的蛋白质编码突变，后来在FAM 46 C、DIS 3、CCND 1、PNRC 1、ALOX 12 B、HLA-A和MAGED 1中报道。在这里，我们使用Qiagen的Incidity Pathway Analysis（IPA）软件报告MM的基因网络关联，并比较IPA中报告的这些蛋白质编码基因（NRAS，TP 53和KRAS）的生物标志物信息。使用Qiagen的不相容性变体分析（IVA），我们将MT-ND 1中的癌症驱动变体表征为可能的致病性或不确定意义的变体。
Technical advances in genome sequencing, in particular whole-genome sequencing (WGS), provide adequate tools to understanding cancer at the molecular level while specifically focusing on genetic variants that contribute to the causation and progression of pathogenic cancers. Multiple myeloma (MM), a malignant disease of plasma cells that is marked as rare yet incurable, may be diagnosed by WGS tools, as this cancer is associated with chromosomal translocations and mutations in specific protein-coding genes. Among these protein-coding genes, many are known to be responsible for cell cycle regulation in MM. The initial significant protein-coding mutations were found in NRAS, KRAS and TP53 and later reported in FAM46C, DIS3, CCND1, PNRC1, ALOX12B, HLA-A and MAGED1. Here, we report gene network associations of MM using Qiagen’s Ingenuity Pathway Analysis (IPA) software and compared biomarker information reported in IPA for these protein-coding genes (NRAS, TP53 and KRAS). Using Qiagen’s Ingenuity Variant Analysis (IVA), we characterized cancer driver variants in MT-ND1 as likely pathogenic or variants of uncertain significance.
影响因子：
64.8
作者：
Sudmant PH;Rausch T;Gardner EJ;Handsaker RE;Abyzov A;Huddleston J;Zhang Y;Ye K;Jun G;Fritz MH;Konkel MK;Malhotra A;Stütz AM;Shi X;Casale FP;Chen J;Hormozdiari F;Dayama G;Chen K;Malig M;Chaisson MJP;Walter K;Meiers S;Kashin S;Garrison E;Auton A;Lam HYK;Mu XJ;Alkan C;Antaki D;Bae T;Cerveira E;Chines P;Chong Z;Clarke L;Dal E;Ding L;Emery S;Fan X;Gujral M;Kahveci F;Kidd JM;Kong Y;Lameijer EW;McCarthy S;Flicek P;Gibbs RA;Marth G;Mason CE;Menelaou A;Muzny DM;Nelson BJ;Noor A;Parrish NF;Pendleton M;Quitadamo A;Raeder B;Schadt EE;Romanovitch M;Schlattl A;Sebra R;Shabalin AA;Untergasser A;Walker JA;Wang M;Yu F;Zhang C;Zhang J;Zheng-Bradley X;Zhou W;Zichner T;Sebat J;Batzer MA;McCarroll SA;1000 Genomes Project Consortium;Mills RE;Gerstein MB;Bashir A;Stegle O;Devine SE;Lee C;Eichler EE;Korbel JO
通讯作者：
Korbel JO
多发性骨髓瘤的初始基因组测序和分析。
影响因子：
64.8
作者：
Chapman, Michael A.;Lawrence, Michael S.;Keats, Jonathan J.;Cibulskis, Kristian;Sougnez, Carrie;Schinzel, Anna C.;Harview, Christina L.;Brunet, Jean-Philippe;Ahmann, Gregory J.;Adli, Mazhar;Anderson, Kenneth C.;Ardlie, Kristin G.;Auclair, Daniel;Baker, Angela;Bergsagel, P. Leif;Bernstein, Bradley E.;Drier, Yotam;Fonseca, Rafael;Gabriel, Stacey B.;Hofmeister, Craig C.;Jagannath, Sundar;Jakubowiak, Andrzej J.;Krishnan, Amrita;Levy, Joan;Liefeld, Ted;Lonial, Sagar;Mahan, Scott;Mfuko, Bunmi;Monti, Stefano;Perkins, Louise M.;Onofrio, Robb;Pugh, Trevor J.;Rajkumar, S. Vincent;Ramos, Alex H.;Siegel, David S.;Sivachenko, Andrey;Stewart, A. Keith;Trudel, Suzanne;Vij, Ravi;Voet, Douglas;Winckler, Wendy;Zimmerman, Todd;Carpten, John;Trent, Jeff;Hahn, William C.;Garraway, Levi A.;Meyerson, Matthew;Lander, Eric S.;Getz, Gad;Golub, Todd R.
通讯作者：
Golub, Todd R.
DOI：
10.1007/978-3-319-25586-6_2
发表时间：
2018-01-01
期刊：
MULTIPLE MYELOMA AND OTHER PLASMA CELL NEOPLASMS
影响因子：
--
作者：
Rajkumar, S. Vincent;Fonseca, Rafael;San Miguel, Jesus F.
通讯作者：
San Miguel, Jesus F.