Identification of gene modules and hub genes in colon adenocarcinoma associated with pathological stage based on WGCNA analysis
In conclusion, we identified five gene modules and six candidate biomarkers correlated with the TNM staging of COAD patients. These findings may help us to understand the tumor progression of COAD and provide prognostic biomarkers as well as therapeutic targets. (Source: Cancer Genetics)
Source: Cancer Genetics - February 1, 2020 Category: Cancer & Oncology Source Type: research

MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes
Publication date: Available online 27 January 2020Source: Cancer GeneticsAuthor(s): Katsuya Yamamoto, Kimikazu Yakushijin, Mitsuhiro Ito, Hideaki Goto, Ako Higashime, Kazuyoshi Kajimoto, Yoshitake Hayashi, Hiroshi Matsuoka, Hironobu MinamiAbstractIn multiple myeloma (MM), MYC rearrangements that result in increased MYC expression are associated with an aggressive form of MM and adverse outcome. However, the consequences of MYC amplification in MM remain unclear. Here, we describe an unusual case of plasma cell leukemia (PCL) harboring MYC amplification on double minute chromosomes (dmin). A 79-year-old woman was initially ...
Source: Cancer Genetics - January 28, 2020 Category: Cancer & Oncology Source Type: research

Molecular Profiling of Gynecologic Cancers for Treatment and Management of Disease – Demonstrating Clinical Significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants
Publication date: Available online 14 January 2020Source: Cancer GeneticsAuthor(s): Qian Nie, Gregory Omerza, Harshpreet Chandok, Matthew Prego, Meng-Chang Hsiao, Bridgette Meyers, Andrew Hesse, Jasmina Uvalic, Melissa Soucy, Daniel Bergeron, Michael Peracchio, Shelbi Burns, Kevin Kelly, Shannon Rowe, Jens Rueter, Honey V ReddiAbstractMolecular features of gynecologic cancers have been investigated in comprehensive studies, but correlation of these molecular signatures with clinical significance for precision medicine is yet to be established. Towards this end, we evaluated 95 gynecologic cancer cases submitted for testing...
Source: Cancer Genetics - January 15, 2020 Category: Cancer & Oncology Source Type: research

The Combination of WGS and RNA-Seq is Superior to Conventional Diagnostic Tests in Multiple Myeloma: Ready for Prime Time?
Publication date: Available online 11 January 2020Source: Cancer GeneticsAuthor(s): Alexander Höllein, Sven O. Twardziok, Wencke Walter, Stephan Hutter, Constance Baer, Jesus Maria Hernandez-Sanchez, Manja Meggendorfer, Torsten Haferlach, Wolfgang Kern, Claudia HaferlachAbstractThe diagnosis and risk stratification of multiple myeloma (MM) is based on clinical and cytogenetic tests. Magnetic CD138 enrichment followed by interphase FISH (fluorescence in situ hybridisation) is the gold standard to identify prognostic translocations and copy number alterations (CNA). Although clinical implications of gene expression profilin...
Source: Cancer Genetics - January 11, 2020 Category: Cancer & Oncology Source Type: research

LncRNA HRCEG, Regulated by HDAC1, Inhibits Cells Proliferation and Epithelial-Mesenchymal-Transition in Gastric Cancer
Publication date: Available online 8 January 2020Source: Cancer GeneticsAuthor(s): Shuheng Wu, Erzhong Wu, Dongpeng Wang, Yiwei Niu, Haiyan Yue, Dongdong Zhang, Jianjun Luo, Runsheng ChenAbstractRecently, a number of long noncoding RNAs (lncRNAs) have been reported to play significant roles in human tumorigenesis. However, only few gastric cancer related lncRNAs have been well characterized. Here, we identified one lncRNA HRCEG, whose expression was decreased in the gastric cancer tissues compared with adjacent normal tissues. Overexpression of HRCEG significantly promoted cell apoptosis and inhibited cell proliferation. I...
Source: Cancer Genetics - January 8, 2020 Category: Cancer & Oncology Source Type: research

BRCA1-BRCA2 Mutation Analysis Results in 910 individuals: Mutation Distribution and 8 Novel Mutations
Publication date: Available online 2 January 2020Source: Cancer GeneticsAuthor(s): Aslı Ece Solmaz, Hüseyin Onay, Levent Yeniay, Erhan Gökmen, Necmettin Özdemir, Senem Alanyalı, Ayşenur Oktay, Zeynep Özsaran, Murat Kapkaç, Ferda Özkınay (Source: Cancer Genetics)
Source: Cancer Genetics - January 3, 2020 Category: Cancer & Oncology Source Type: research

Secondary acquisition of BCR-ABL1 fusion in de novo GATA2-MECOM positive acute myeloid leukemia with subsequent emergence of a rare KMT2A-ASXL2 fusion
We report a 45-year-old male with a diagnosis of de novo AML harboring GATA2-MECOM rearrangement in conjunction with a related subclone with concomitant inv(3) and t(9;22). The patient was treated with a tyrosine kinase inhibitor (TKI) which lead to disappearance of the inv(3)/t(9;22) subclone and subsequent expansion of the inv(3) ancestral clone. The patient was started on a 7+3 induction regimen with TKI but had persistent disease. He was placed on several additional treatment protocols and only achieved morphologic remission with a combination of fludarabine, cytarabine and filgrastim with TKI. Approximately 11.5 month...
Source: Cancer Genetics - December 28, 2019 Category: Cancer & Oncology Source Type: research

Rapid progressive lung cancers harbouring multiple clonal driver mutations with big bang evolution model
ConclusionWe should pay attention to clinical course of lung cancer patients harboring multiple clonal driver mutations in their primary lesions. Their punctuated and big bang evolutionary process could develop systemic clinically undetectable metastases with an unexpected speed. (Source: Cancer Genetics)
Source: Cancer Genetics - December 26, 2019 Category: Cancer & Oncology Source Type: research

hsa_circ_0062389 promotes the progression of non-small cell lung cancer by sponging miR-103a-3p to mediate CCNE1 expression
Publication date: Available online 18 December 2019Source: Cancer GeneticsAuthor(s): Yahui She, Yuanyuan Han, Guangting Zhou, Fangyan Jia, Tan Yang, Zuojun ShenAbstractRecently, increasing evidence showed that circular RNAs (circRNAs) play critical roles in tumor progression. However, the roles of hsa_circ_0062389 in non-small cell lung cancer (NSCLC) development remain unclear. In the present study, hsa_circ_0062389 expression was significantly increased in NSCLC tissues and cell lines. High hsa_circ_0062389 expression was associated with advanced TNM stage and lymph-node metastasis. Function assays showed that hsa_circ_0...
Source: Cancer Genetics - December 19, 2019 Category: Cancer & Oncology Source Type: research

Pediatric gastrointestinal stromal tumor: report of two novel patients harboring germline variants in SDHB and SDHC genes
We report two pediatric patients with multifocal GIST, harboring respectively a novel and a previously reported loss-of-function germline variant, in SDHC and SDHB genes. (Source: Cancer Genetics)
Source: Cancer Genetics - December 18, 2019 Category: Cancer & Oncology Source Type: research

Low ALK FISH positive metastatic non-small cell lung cancer (NSCLC) patients have shorter progression-free survival after treatment with ALK inhibitors
Publication date: Available online 13 December 2019Source: Cancer GeneticsAuthor(s): Gokce A Toruner, Zhenya Tang, Guilin Tang, L. Jeffrey Medeiros, Shimin HuAbstractALK FISH assay guides clinical decision to initiate therapy with ALK inhibitors in patients with stage IV non-small cells lung cancer (NSCLC). In this single institution retrospective study, we investigated the association between the strength of ALK positivity and progression-free survival (PFS) We screened 4,829 patients tested for ALK rearrangement by FISH from 01/06/2012 to 06/30/2018 and included 66 stage IV NSCLC ALK positive patients, who were ALK inhib...
Source: Cancer Genetics - December 13, 2019 Category: Cancer & Oncology Source Type: research

Genomic and Transcriptomic Features of Dermatofibrosarcoma Protuberans: Unusual Chromosomal Origin of the COL1A1-PDGFB Fusion Gene and Synergistic Effects of Amplified Regions in Tumor Development
Publication date: Available online 10 December 2019Source: Cancer GeneticsAuthor(s): Jan Köster, Elsa Arbajian, Björn Viklund, Anders Isaksson, Jakob Hofvander, Felix Haglund, Henrik Bauer, Linda Magnusson, Nils Mandahl, Fredrik MertensAbstractThe dermatofibrosarcoma protuberans family of tumors (DPFT) comprises cutaneous soft tissue neoplasms associated with aberrant PDGFBR signaling, typically through a COL1A1-PDGFB fusion. The aim of the present study was to obtain a better understanding of the chromosomal origin of this fusion and to assess the spectrum of secondary mutations at the chromosome and nucleotide levels. ...
Source: Cancer Genetics - December 11, 2019 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: January 2020Source: Cancer Genetics, Volume 240Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - December 10, 2019 Category: Cancer & Oncology Source Type: research

Longitudinal whole-genome sequencing reveals the evolution of MPAL
ConclusionThis longitudinal genomic investigation of the Ph+ MPAL patient established one MPAL evolution model in which the primary tumor acquired additional variations leading to tumor relapse. Moreover, the event of copy number loss remained a valuable hallmark in the progression of MPAL. (Source: Cancer Genetics)
Source: Cancer Genetics - November 23, 2019 Category: Cancer & Oncology Source Type: research

Long Interspersed Nuclear Elements 1 (LINE1): the chimeric transcript L1-MET and its involvement in cancer
Publication date: Available online 21 November 2019Source: Cancer GeneticsAuthor(s): Andrea Cervantes Ayala, Ruth Ruiz Esparza Garrido, Dr. Miguel Ángel Velázquez FloresAbstractLong interspersed nuclear elements 1 (LINE1) are non-LTR retrotransposons that represent the greatest remodeling force of the human genome during evolution. Genomically, LINE1 are constituted by a 5´ untranslated region (UTR), where the promoter regions are located, three open reading frames (ORF0, ORF1, and ORF2) and one 3´UTR, which has a poly(A) tail that harbors the short interspersed nuclear elements (SINEs) Alu and SVA. Although the intrin...
Source: Cancer Genetics - November 23, 2019 Category: Cancer & Oncology Source Type: research