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Genetic variants as biomarkers for progression and resistance in multiple myeloma
Cancer Genetics ( IF 1.9 ) Pub Date : 2020-12-06 , DOI: 10.1016/j.cancergen.2020.12.001
Rachel A Montel 1 , Matthew Gregory 1 , Tinchun Chu 1 , Jessica Cottrell 1 , Constantine Bitasktsis 1 , Sulie L Chang 2
Affiliation  

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.



中文翻译:

遗传变异作为多发性骨髓瘤进展和耐药性的生物标志物

基因组测序的技术进步,特别是全基因组测序 (WGS),为在分子水平上了解癌症提供了充分的工具,同时特别关注导致致病性癌症的病因和进展的基因变异。多发性骨髓瘤 (MM) 是一种浆细胞恶性疾病,被标记为罕见但无法治愈,可以通过 WGS 工具诊断,因为这种癌症与特定蛋白质编码基因的染色体易位和突变有关。在这些蛋白质编码基因中,许多已知负责 MM 中的细胞周期调节。最初在NRAS、KRASTP53中发现了重要的蛋白质编码突变,后来在FAM46C、DIS3、CCND1、PNRC1、ALOX12B、HLA-A魔法1。在这里,我们使用 Qiagen 的 Ingenuity Pathway Analysis (IPA) 软件报告了 MM 的基因网络关联,并比较了 IPA 中报告的这些蛋白质编码基因(NRAS、TP53KRAS)的生物标志物信息。使用 Qiagen 的 Ingenuity Variant Analysis (IVA),我们将MT-ND1中的癌症驱动变异定性为可能致病或意义不确定的变异。

更新日期:2020-12-15
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