Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome
Publication date: Available online 26 June 2020Source: Cancer GeneticsAuthor(s): Zhenxin Zhu, Jieshi Wang, Lisha Jiang, Ling Lin, Peng Meng, Jiangman Zhao, Qingping Cai (Source: Cancer Genetics)
Source: Cancer Genetics - June 27, 2020 Category: Cancer & Oncology Source Type: research

Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome
Publication date: Available online 14 June 2020Source: Cancer GeneticsAuthor(s): Stefan Rentas, Vinodh Pillai, Gerald B. Wertheim, Gozde T. Akgumus, Kim E. Nichols, Matthew A. Deardorff, Laura K. Conlin, Marilyn M. Li, Timothy S. Olson, Minjie Luo (Source: Cancer Genetics)
Source: Cancer Genetics - June 15, 2020 Category: Cancer & Oncology Source Type: research

Alcohol consumption and risk of breast and ovarian cancer: a Mendelian randomization study
Publication date: Available online 12 June 2020Source: Cancer GeneticsAuthor(s): Jingjing Zhu, Xia Jiang, Zheng Niu (Source: Cancer Genetics)
Source: Cancer Genetics - June 12, 2020 Category: Cancer & Oncology Source Type: research

High methylation levels of histone H3 lysine 9 associated with activation of hypoxia-inducible factor 1α (HIF-1α) predict patients’ worse prognosis in human hepatocellular carcinomas
Publication date: July 2020Source: Cancer Genetics, Volume 245Author(s): Yanyan Qian, Yiping Li, Chuqian Zheng, Tianyu Lu, Rui Sun, Yuhang Mao, Shenling Yu, Hong Fan, Zhihong Zhang (Source: Cancer Genetics)
Source: Cancer Genetics - June 12, 2020 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: June 2020Source: Cancer Genetics, Volume 244Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - June 11, 2020 Category: Cancer & Oncology Source Type: research

Generation and Characterization of the Eµ-Irf8 mouse model
Publication date: Available online 3 June 2020Source: Cancer GeneticsAuthor(s): Zhijun Qiu, Kenneth N. Holder, An-Ping Lin, Jamie Myers, Shoulei Jiang, Karla M. Gorena, Marsha C. Kinney, Ricardo C.T. Aguiar (Source: Cancer Genetics)
Source: Cancer Genetics - June 3, 2020 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: May 2020Source: Cancer Genetics, Volume 243Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - May 20, 2020 Category: Cancer & Oncology Source Type: research

Comprehensive Network Analysis of the Molecular Mechanisms Associated with Sorafenib Resistance in Hepatocellular Carcinoma
Publication date: Available online 17 May 2020Source: Cancer GeneticsAuthor(s): Xiang Cui, Chao Li, Chunshan Wei, Guangdong Tong, Yufeng Xing (Source: Cancer Genetics)
Source: Cancer Genetics - May 19, 2020 Category: Cancer & Oncology Source Type: research

High Methylation Levels of Histone H3 lysine 9 Associated with Activation of HIF-1α Predict Patients’ Worse Prognosis in Human Hepatocellular Carcinomas
Publication date: Available online 18 May 2020Source: Cancer GeneticsAuthor(s): Yanyan Qian, Yiping Li, Chuqian Zheng, Tianyu Lu, Rui Sun, Yuhang Mao, Shenling Yu, Hong Fan, Zhihong Zhang (Source: Cancer Genetics)
Source: Cancer Genetics - May 19, 2020 Category: Cancer & Oncology Source Type: research

Genetic Progression of Post-Transplant Burkitt-like Lymphoma Case with 11q-Gain/Loss and MYC Amplification
Publication date: Available online 18 May 2020Source: Cancer GeneticsAuthor(s): Beata Grygalewicz, Renata Woroniecka, Grzegorz Rymkiewicz, Jolanta Rygier, Natalia Malawska, Katarzyna Blachnio, Zbigniew Bystydzienski, Anita Borysiuk, Beata Nowakowska, Barbara Pienkowska-Grela (Source: Cancer Genetics)
Source: Cancer Genetics - May 19, 2020 Category: Cancer & Oncology Source Type: research

Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by next-generation sequencing
Publication date: Available online 3 May 2020Source: Cancer GeneticsAuthor(s): Nives Zimmermann, Mehdi Nassiri, Jiehao Zhou, Adam M. Miller, Shanxiang Zhang (Source: Cancer Genetics)
Source: Cancer Genetics - May 4, 2020 Category: Cancer & Oncology Source Type: research

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
Publication date: Available online 3 May 2020Source: Cancer GeneticsAuthor(s): Hanna Algattas, Hussam Abou-Al-Shaar, Michael Mendelson, Georgianne L. Arnoldar, James Felkear, Julia Meadear, Stephanie Greenear (Source: Cancer Genetics)
Source: Cancer Genetics - May 4, 2020 Category: Cancer & Oncology Source Type: research

Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: a case report
Publication date: Available online 4 May 2020Source: Cancer GeneticsAuthor(s): Alexander S. Roseman, Patrick R. Blackburn, Shubham Bakshi, Lisa Grady, Mary-Alice Abbott, Sajjad Hassan, John Hunt, Matthew Richardson, Jess F. Peterson, Phuong Nguyen, Patricia T. Greipp, Rachana Singh (Source: Cancer Genetics)
Source: Cancer Genetics - May 4, 2020 Category: Cancer & Oncology Source Type: research

Assessing Genomic Copy Number Alterations as Best Practice for Renal Cell Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium Workgroup
Publication date: Available online 1 May 2020Source: Cancer GeneticsAuthor(s): Yajuan J. Liu, Jane Houldsworth, Rajyasree Emmadi, Lisa Dyer, Daynna J. Wolff (Source: Cancer Genetics)
Source: Cancer Genetics - May 3, 2020 Category: Cancer & Oncology Source Type: research

The Evolving Clinical Testing Landscape of Genomic Aberrations in Solid Tumors and Hematological Malignancies – Insights from Evidence-Based Reviews for B-ALL and Breast, Brain, and Renal Cell Neoplasia
Publication date: Available online 28 April 2020Source: Cancer GeneticsAuthor(s): Patricia Miron, Min Fang (Source: Cancer Genetics)
Source: Cancer Genetics - April 28, 2020 Category: Cancer & Oncology Source Type: research

Double Mutation of Apc and Brca1 in an Italian Family
Publication date: Available online 28 April 2020Source: Cancer GeneticsAuthor(s): Maria Teresa Vietri, Giovanna D'Elia, Gemma Caliendo, Amelia Casamassimi, Marianna Resse, Luana Passariello, Michele Cioffi, Anna Maria Molinari (Source: Cancer Genetics)
Source: Cancer Genetics - April 28, 2020 Category: Cancer & Oncology Source Type: research

Evidence-Based Review of Genomic Aberrations in B-Lymphoblastic Leukemia/Lymphoma: Report from the Cancer Genomics Consortium Working Group for Lymphoblastic Leukemia
Publication date: Available online 21 March 2020Source: Cancer GeneticsAuthor(s): Yassmine Akkari, Helene Bruyere, Tanner R. Hagelstrom, Rashmi Kanagal-Shamanna, Jie Liu, Minjie Luo, Fady M. Mikhail, Beth Pitel, Gordana Raca, Mary Shago, Lina Shao, Lisa R. Smith, Teresa A. Smolarek, Ashwini Yenamandra, Linda B. Baughn (Source: Cancer Genetics)
Source: Cancer Genetics - March 21, 2020 Category: Cancer & Oncology Source Type: research

Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis
Publication date: Available online 17 March 2020Source: Cancer GeneticsAuthor(s): Jaime L. Lopes, Matthew Webley, Beth A. Pitel, Kathryn E. Pearce, James B. Smadbeck, Sarah H. Johnson, George Vasmatzis, William R. Sukov, Patricia T. Greipp, Nicole L. Hoppman, Rhett P. Ketterling, Linda B. Baughn, Laura Finn, Jess F. Peterson (Source: Cancer Genetics)
Source: Cancer Genetics - March 18, 2020 Category: Cancer & Oncology Source Type: research

Comparison of Four Next Generation Sequencing Platforms for Fusion Detection: Oncomine by ThermoFisher, AmpliSeq by Illumina, FusionPlex by ArcherDX, and QIAseq by QIAGEN
Publication date: Available online 7 March 2020Source: Cancer GeneticsAuthor(s): Xiaoyu Qu, Cecilia Yeung, Ilsa Coleman, Peter S Nelson, Min Fang (Source: Cancer Genetics)
Source: Cancer Genetics - March 8, 2020 Category: Cancer & Oncology Source Type: research

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
Publication date: Available online 6 March 2020Source: Cancer GeneticsAuthor(s): Muhammad Faiyaz-Ul-Haque, Masood Jamil, Muhammad Aslam, Halah Abalkhail, Fouad Al-Dayel, Sulman Basit, Zafar Nawaz, Syed H.E. Zaidi (Source: Cancer Genetics)
Source: Cancer Genetics - March 6, 2020 Category: Cancer & Oncology Source Type: research

Copy Number Assessment in the Genomic Analysis of CNS Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium (CGC) Working Group on Primary CNS Tumors
Publication date: Available online 26 February 2020Source: Cancer GeneticsAuthor(s): Stewart G. Neill, Jennifer Hauenstein, Marilyn M. Li, Yajuan J Liu, Minjie Luo, Debra F. Saxe, Azra H. Ligon (Source: Cancer Genetics)
Source: Cancer Genetics - February 26, 2020 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: April 2020Source: Cancer Genetics, Volume 242Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - February 26, 2020 Category: Cancer & Oncology Source Type: research

Integrating transcriptome-wide association study and copy number variation study identifies candidate genes and pathways for diffuse non-Hodgkin's lymphoma
Publication date: Available online 25 February 2020Source: Cancer GeneticsAuthor(s): Di Wu, Jing Zhao, Hong Ma, Meng-Chang Wang (Source: Cancer Genetics)
Source: Cancer Genetics - February 25, 2020 Category: Cancer & Oncology Source Type: research

BCL11A Gene Over-expression in High Risk Neuroblastoma
Publication date: Available online 12 February 2020Source: Cancer GeneticsAuthor(s): Iyad Sultan, Abdelghani Tbakhi (Source: Cancer Genetics)
Source: Cancer Genetics - February 13, 2020 Category: Cancer & Oncology Source Type: research

LINE-1 retrotransposon encoded ORF1p expression and promoter methylation in oral squamous cell carcinoma: a pilot study
Publication date: Available online 10 February 2020Source: Cancer GeneticsAuthor(s): Savita Budania, Debpali Sur, Jitendra Nangal, Sofia Pilli, Koel Mukherjee, Manash Biswas, Ramasare Prasad, Prabhat K. Mandal, Shilpi SaxenaAbstractOral squamous cell carcinoma (OSCC) is highly predominant in India due to excessive use of tobacco. Here we investigated Long INterpersed Element 1 (LINE or L1) retrotransposon activity in OSCC samples in the same population. There are almost 500,000 copies of L1 occupied around 30%  of the human genome. Although most of them are inactive, around 150-200 copies are actively jumping in a hum...
Source: Cancer Genetics - February 12, 2020 Category: Cancer & Oncology Source Type: research

Editorial Board
Publication date: February 2020Source: Cancer Genetics, Volume 241Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - February 10, 2020 Category: Cancer & Oncology Source Type: research

Enrichment of atypical hyperdiploidy and IKZF1 deletions detected by SNP-microarray in high-risk Australian AIEOP-BFM B-cell acute lymphoblastic leukaemia cohort
Publication date: Available online 10 February 2020Source: Cancer GeneticsAuthor(s): Nadine K Berry, Rodney J Scott, Rosemary Sutton, Tamara Law, Toby N Trahair, Luce Dalla Pozza, Petra Ritchie, Draga Barbaric, Anoop K EnjetiAbstractAcute lymphoblastic leukaemia (ALL) is the most common childhood malignancy with the majority of patients being classified as B-cell lineage (B-ALL). The sub-classification of B-ALL is based on genomic architecture. Recent studies have demonstrated the capability of SNP-microarrays to detect genomic changes in B-ALL which cannot be observed by conventional cytogenetic methods. In current clinic...
Source: Cancer Genetics - February 10, 2020 Category: Cancer & Oncology Source Type: research

Current Concepts in Breast Cancer Genomics: An Evidence Based Review by the CGC Breast Cancer Working Group
Conclusion: A summary of currently available information on breast cancer genomics will enhance precision medicine by serving as an interpretive resource for clinical laboratory geneticists, providing a foundation for future practice guidelines, and identifying knowledge gaps to address in future research. (Source: Cancer Genetics)
Source: Cancer Genetics - February 8, 2020 Category: Cancer & Oncology Source Type: research

Kinetics of DNA damage repair response accompanying initial hepadnavirus-host genomic integration in woodchuck hepatitis virus infection of hepatocyte
Publication date: Available online 5 February 2020Source: Cancer GeneticsAuthor(s): Ranjit Chauhan, Tomasz I. MichalakAbstractMechanism of initial hepatitis B virus (HBV) integrations and kinetics of DNA repair immediately after infection remain essentially unknown impairing understanding of hepadnaviral oncogenesis. WCM260 hepatocytes susceptible to HBV-compatible woodchuck hepatitis virus (WHV) were examined from 15 min to 72 hours post-infection (p.i.). WHV strongly induced reactive oxygen species (ROS), transiently inducible nitric oxide (iNOS) and DNA damage from 15 min p.i. All initial WHV-host fusions had the head-t...
Source: Cancer Genetics - February 6, 2020 Category: Cancer & Oncology Source Type: research

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 prof...
Source: Cancer Genetics - January 12, 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 9, 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 ...
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 SV...
Source: Cancer Genetics - November 23, 2019 Category: Cancer & Oncology Source Type: research

MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers
In this study, our goal was to verify MIR605 rs2043556 allele frequencies and further explore its possible effects on the phenotype of 238 Brazilian individuals carrying TP53 p.(Arg337His). The MIR605 rs2043556 G allele was detected in 136 (57.1%) individuals, including 25 homozygotes (10.5%), and although it had been previously associated with an earlier mean age of tumor onset, this effect was not observed in this study (p=0.8). However, in p.(Arg337His) mutation carriers, the GG genotype was significantly associated with the occurrence of multiple primary tumors (p=0.005). We provide further evidence of MIR605 rs20...
Source: Cancer Genetics - November 20, 2019 Category: Cancer & Oncology Source Type: research

Stem cell factor receptor gene mutation: achalasia, mastocytosis and gastrointestinal stromal tumors.
Publication date: Available online 20 November 2019Source: Cancer GeneticsAuthor(s): Francisco Tustumi, Daniel José Szor, Rubens Antonio Aissar Sallum, Ivan Cecconello (Source: Cancer Genetics)
Source: Cancer Genetics - November 20, 2019 Category: Cancer & Oncology Source Type: research

Utility of Copy Number Variants in the Classification of Intracranial Ependymoma
Publication date: Available online 18 November 2019Source: Cancer GeneticsAuthor(s): Michael Evenson, Chunyu Cai, Vishwanathan Hucthagowder, Samantha McNulty, Julie Neidich, Shashikant Kulkarni, Sonika DahiyaAbstractEpendymomas are neuroepithelial tumors that differentiate along the ependymal cell lineage, a lining of the ventricles of the brain and the central canal of the spinal cord. They are rare in adults, but account for 9% of brain tumors in children, where they usually have an aggressive course. Efficient stratification could lead to improved care but remains a challenge even in the genomic era. Recent studies prop...
Source: Cancer Genetics - November 20, 2019 Category: Cancer & Oncology Source Type: research

Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens
We present a novel, TdT and CD3 negative, aggressive early T-cell precursor LBL (ETP-LBL) initially misdiagnosed as a high grade B-cell lymphoma due to expression of CD79a and the erroneous detection of BCL2/IGH fusion. The patient was eventually evaluated using molecular diagnostic techniques, including fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) assays that demonstrated PICALM-MLLT10 fusion and a NOTCH1 mutation in the absence of BCL2/IGH fusion. The use of NGS, specifically mate-pair sequencing (MPseq), subsequently confirmed an in-frame PICALM-MLLT10 fusion. Our retrospective analysis...
Source: Cancer Genetics - November 17, 2019 Category: Cancer & Oncology Source Type: research

Molecular and phenotypic characterization of an early T precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens
We present a novel, TdT and CD3 negative, aggressive early T-cell precursor LBL (ETP-LBL) initially misdiagnosed as high grade B-cell lymphoma due to expression of CD79a and the erroneous detection of BCL2/IGH fusion. The patient was eventually evaluated using molecular diagnostic techniques, including fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) assays that demonstrated PICALM-MLLT10 fusion and a NOTCH1 mutation in the absence of BCL2/IGH fusion. The use of NGS, specifically mate-pair sequencing (MPseq), subsequently confirmed an in-frame PICALM-MLLT10 fusion. Our retrospective analysis s...
Source: Cancer Genetics - November 11, 2019 Category: Cancer & Oncology Source Type: research

Circ-SLC7A5, a potential prognostic circulating biomarker for detection of ESCC
Publication date: Available online 5 November 2019Source: Cancer GeneticsAuthor(s): Qian Wang, Han Liu, Zihao Liu, Lili Yang, Jian Zhou, Handong Sun, Xiufeng CaoAbstractCircular RNAs (circRNAs), resulting from the non-canonical splicing of linear pre-mRNAs, have permanently altered our perspectives toward cancer recently, especially in carcinogenesis and cancer progression. However, the roles of circRNAs in esophageal squamous cell carcinoma (ESCC) remain largely unknown. In the current study, circRNAs expression profiles are screened in ESCC, using plasma samples from 10 ESCC patients, including different TNM stages and 5...
Source: Cancer Genetics - November 7, 2019 Category: Cancer & Oncology Source Type: research