Search our Database of Scientific Publications and Authors

I’m looking for a

    559 results match your criteria Cancer Genetics [Journal]

    1 OF 12

    Decoding colorectal cancer epigenomics.
    Cancer Genet 2018 Jan 15;220:49-76. Epub 2017 Nov 15.
    National Laboratory of Reference, Faculty of Medicine, Mohammed VI University of Health Sciences (UM6SS), Casablanca, Morocco.
    Colorectal cancer (CRC) is very heterogeneous and presents different types of epigenetic alterations including DNA methylation, histone modifications and microRNAs. These changes are considered as characteristics of various observed clinical phenotypes. Undoubtedly, the discovery of epigenetic pathways with novel epigenetic-related mechanisms constitutes a promising advance in cancer biomarker discovery. Read More

    A leukemic double-hit follicular lymphoma associated with a complex variant translocation, t(8;14;18)(q24;q32;q21), involving BCL2, MYC, and IGH.
    Cancer Genet 2018 Jan 28;220:44-48. Epub 2017 Nov 28.
    Division of Hematology, Department of Medicine, Jichi Medical University, Tochigi, Japan. Electronic address:
    Double-hit lymphoma (DHL) is defined as lymphoma with concurrent BCL2 and MYC translocations. While the most common histological subtype of DHL is diffuse large B-cell lymphoma, the present patient had leukemic follicular lymphoma (FL). A 52-year-old man was admitted to our hospital due to general fatigue and cervical and inguinal lymph node swelling. Read More

    Assessment of a FBXW8 frameshift mutation, c.1312_1313delGT, in breast cancer patients and controls from Central Europe.
    Cancer Genet 2018 Jan 28;220:38-43. Epub 2017 Nov 28.
    Gynaecology Research Unit, Hannover Medical School, Hannover, Germany. Electronic address:
    F-box proteins participate in multiple cellular processes through ubiquitylation and subsequent degradation of target proteins, such as cyclin D1 as target of FBXW8. To investigate the spectrum of FBXW8 germ-line mutations in patients with breast cancer and healthy controls, we analyzed the whole FBXW8 coding region and flanking untranslated portions in germ-line DNA samples of 91 breast cancer patients and 277 healthy controls using next-generation amplicon sequencing. Five missense variants, one splice site variant, one frameshift variant, one synonymous variant, and one variant in the 3'-UTR were identified. Read More

    Circulating long non-coding RNA MALAT1 expression as molecular biomarker in Egyptian patients with breast cancer.
    Cancer Genet 2018 Jan 22;220:32-37. Epub 2017 Nov 22.
    General Organization for Teaching Hospitals and Institutes, Cairo, Egypt.
    The abnormal contribution of long non-coding RNA (lncRNAs) expression to human tumorigenesis is still a matter of debate. Breast cancer is the most common cancer in females; it represents a terrible problem in our country. The aim of this research was to assess the role of MALAT1, as one of lncRNAs, as a potential biomarker in breast cancer. Read More

    APRIL gene expression in a cohort of Egyptian acute myeloid leukemia patients: Clinical and prognostic significance.
    Cancer Genet 2018 Jan 24;220:24-31. Epub 2017 Oct 24.
    Department of Clinical and Chemical Pathology, Beni Suef Teaching Hospital, Faculty of Medicine, Beni Suef University, Egypt. Electronic address:
    APRIL (A Proliferation Inducing Ligand) is a member of the tumor necrosis factor (TNF) family. It is essential for the survival of normal and malignant B lymphocytes. Increased expression of APRIL is noted in most of hematological malignancies and auto immune diseases. Read More

    Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry.
    Cancer Genet 2018 Jan 20;220:19-23. Epub 2017 Nov 20.
    Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece.
    Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. PJS patients face a cumulative cancer risk as high as 93% for all sites combined. The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical characteristics of sixteen mutation carriers and launches a National Registry for PJS in Greece. Read More

    Myeloid neoplasm with eosinophilia associated with isolated extramedullary FIP1L1/PDGFRA rearrangement.
    Cancer Genet 2018 Jan 23;220:13-18. Epub 2017 Oct 23.
    Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, Arizona.
    Myeloid neoplasms with eosinophilia associated with PDGFRA rearrangement are very responsive to tyrosine kinase inhibitors (TKIs). Herein, we report a case of a 53-year-old man with eosinophilia and a well-differentiated extramedullary myeloid tumor with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ hybridization in the extramedullary tissue. His bone marrow evaluation revealed a hypercellular marrow with eosinophilia but without evidence of a FIP1L1/PDGFRA rearrangement. Read More

    Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
    Cancer Genet 2018 Jan 19;220:1-12. Epub 2017 Oct 19.
    GeneKor Medical S.A, Athens 15344, Greece.
    Germline mutations in the BRCA1 and BRCA2 genes are associated with hereditary predisposition to breast and ovarian cancer. Sensitive and accurate detection of BRCA1 and BRCA2 mutations is crucial for personalized clinical management of individuals affected by breast or ovarian cancer, and for the identification of at-risk healthy relatives. We performed molecular analysis of the BRCA1 and BRCA2 genes in 898 Greek families, using Sanger sequencing or Next Generation Sequencing for the detection of small insertion/deletion frameshift, nonsynonymous, truncating and splice-site alterations and MLPA for the detection of large genomic rearrangements. Read More

    High amplification levels of MDM2 and CDK4 correlate with poor outcome in patients with dedifferentiated liposarcoma: A cytogenomic microarray analysis of 47 cases.
    Cancer Genet 2017 Dec 22;218-219:69-80. Epub 2017 Sep 22.
    Department of Pathology, University of Washington School of Medicine, Seattle, WA. Electronic address:
    Dedifferentiated liposarcoma (DDLS) is characterized at the molecular level by amplification of genes within 12q13-15 including MDM2 and CDK4. However, other than FNCLCC grade, prognostic markers are limited. We aim to identify molecular prognostic markers for DDLS to help risk stratify patients. Read More

    Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
    Cancer Genet 2017 Dec 25;218-219:58-68. Epub 2017 Sep 25.
    Myriad Genetic Laboratories, Inc., Salt Lake City, UT, USA.
    Genetic testing for inherited cancer risk is now widely used to target individuals for screening and prevention. However, there is limited evidence available to evaluate the clinical utility of various testing strategies, such as single-syndrome, single-cancer, or pan-cancer gene panels. Here we report on the outcomes of testing with a 25-gene pan-cancer panel in a consecutive series of 252,223 individuals between September 2013 and July 2016. Read More

    Correlations between microsatellite instability, ERCC1/XRCC1 polymorphism and clinical characteristics, and FOLFOX adjuvant chemotherapy effect of colorectal cancer patients.
    Cancer Genet 2017 Dec 22;218-219:51-57. Epub 2017 Sep 22.
    Biotecan Medical Diagnostics Co., Ltd, Zhangjiang Center for Translational Medicine, Shanghai 201204, PR China. Electronic address:
    Patients with MSI colorectal tumor have good prognosis and cannot benefit from 5-fluorouracil (5-Fu)-based chemotherapy reported by previous studies. While, single nucleotide polymorphisms (SNP) of ERCC1 and XRCC1 have be proved to influence clinical outcome of colorectal cancer patients treated with oxaliplatin-based chemotherapy. We aim to study the correlation between molecular status and clinical- pathological features, and their effect on CRC patients' clinical outcome treated with mFOLFOX6 adjuvant chemotherapy. Read More

    Circulating cell-free DNA mutation patterns in early and late stage colon and pancreatic cancer.
    Cancer Genet 2017 Dec 14;218-219:39-50. Epub 2017 Sep 14.
    Department of Oncology, Georgetown University, Washington, DC, USA; Otto J. Ruesch Center for the Cure of Gastrointestinal Cancer, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA. Electronic address:
    Cancer is a heterogeneous disease harboring diverse subclonal populations that can be discriminated by their DNA mutations. Environmental pressure selects subclones that ultimately drive disease progression and tumor relapse. Circulating cell-free DNA (ccfDNA) can be used to approximate the mutational makeup of cancer lesions and can serve as a marker for monitoring disease progression at the molecular level without the need for invasively acquired samples from primary or metastatic lesions. Read More

    Differences between chronic lymphocytic leukaemia and small lymphocytic lymphoma cells by proteomic profiling and SNP microarray analysis.
    Cancer Genet 2017 Dec 12;218-219:20-38. Epub 2017 Sep 12.
    Department of Haematology, St George's University of London, Cranmer Terrace, London SW17 0RE, UK. Electronic address:
    The majority of malignant cells in chronic lymphocytic leukaemia (CLL) circulate in the peripheral blood whereas small lymphocytic lymphoma (SLL) cells reside in tissues. The aim of this study was to detect differences in chemokine receptor expression, DNA single nucleotide polymorphism (SNP) microarray analysis and proteomic profiling to help elucidate why the cells remain in their respective environments. We identified by flow cytometric studies of chemokine receptors and DNA SNP microarray analysis significant differences between cells from CLL and SLL patients. Read More

    Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia.
    Cancer Genet 2017 Dec 13;218-219:15-19. Epub 2017 Sep 13.
    Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & Hospital, Hong Kong.
    In a newly diagnosed patient with acute myeloid leukemia (AML) and complex cytogenetics and negative for gene mutations associated with myeloid neoplasms, RNA sequencing by next-generation sequencing (NGS) through a large cancer-related gene panel showed ETV6-LYN leukemic fusion transcript. Breakpoint analysis of the NGS reads showed fusion of exon 5 of the ETV6 gene to exon 8 of the LYN gene. Metaphase fluorescence in situ hybridization (FISH) inferred a four-break rearrangement of three chromosomes, namely 1, 8 and 12. Read More

    Is intrachromosomal amplification of chromosome 21 (iAMP21) always intrachromosomal?
    Cancer Genet 2017 Dec 31;218-219:10-14. Epub 2017 Aug 31.
    Cancer and Blood Disorders Center, Seattle Children's Hospital, 4800 Sand Point Way NE, MB.8.501, Seattle, WA 98105.
    Recurrent chromosomal abnormalities in childhood B-cell acute lymphoblastic leukemia (B-ALL) provide prognostic information that is useful in determining treatment stratification. iAMP21 is a more recently recognized cytogenetic entity of B-ALL that was originally described as multiple copies of the RUNX1 gene on a structurally abnormal chromosome 21. Subsequent studies elucidated a common region of highest-level amplification that includes RUNX1. Read More

    Detection of complex genomic signatures associated with risk in plasma cell disorders.
    Cancer Genet 2017 Dec 1;218-219:1-9. Epub 2017 Sep 1.
    Department of Hematology, Calvary Mater Hospital, Newcastle, New South Wales, Australia; School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia.
    Plasma cell disorders (PCD) range from benign to highly malignant disease. The ability to detect risk-stratifying aberrations based on cytogenetic and molecular genetic assays plays an increasing role in therapeutic decision making. In this study, 58 patients were chosen for screening by comparative genomic hybridisation microarray (aCGH) to identify the new high-risk prognostic markers of chromothripsis and chromoanasynthesis. Read More

    A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia.
    Cancer Genet 2017 Oct 3;216-217:91-99. Epub 2017 Aug 3.
    Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California. Electronic address:
    The 2016 World Health Organization (2016 WHO) classification of hematopoietic malignancies classifies neoplasms with a fusion between the FIP1L1 and PDGFRA genes in 4q12 into a group called "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 or with PCM1-JAK2". Neoplasms characterized by this fusion are pluripotent stem cell disorders that can show both myeloid and lymphoid differentiation. They typically occur in adult patients and most are characterized by eosinophilia. Read More

    A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH.
    Cancer Genet 2017 Oct 31;216-217:86-90. Epub 2017 Jul 31.
    Cancer Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia; Discipline of Medicine, University of Adelaide, Adelaide, SA, Australia; Australian Genomic Health Alliance, Australia. Electronic address:
    We report a novel somatic mutation in the kinase domain of JAK2 (R938Q) in a high-risk pediatric case of B-cell acute lymphoblastic leukemia (ALL). The patient developed on-therapy relapse at 12 months, and interestingly, the JAK2 locus acquired loss of heterozygosity during treatment resulting in 100% mutation load. Furthermore, we show that primary ALL mononuclear cells harboring the JAK2 R938Q mutation display reduced sensitivity to the JAK1/2 ATP-competitive inhibitor ruxolitinib in vitro, compared to ALL cells that carry a more common JAK2 pseudokinase domain mutation. Read More

    Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.
    Cancer Genet 2017 Oct 20;216-217:79-85. Epub 2017 Jul 20.
    Department of Oncology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
    Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. Read More

    Acute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation?
    Cancer Genet 2017 Oct 31;216-217:74-78. Epub 2017 Jul 31.
    Division of Hematology/Blood and Marrow Transplantation, Department of Medicine, University of California, San Francisco, CA. Electronic address:
    In acute myeloid leukemia (AML), a translocation between chromosomes 8q22 and 21q22 leads to the RUNX1-RUNXT1 fusion gene which, in the absence of a concomitant KIT mutation, generally portends a more favorable prognosis. Translocations at 21q22, other than those involving 8q22, are uncommon, and the specific prognostic and therapeutic implications are accordingly limited by the small number of reported cases. In this report, we describe the case of a 67-year-old gentleman who presented with AML harboring t(14;21)(q23;q22). Read More

    Upregulation of vascular endothelial growth factor (VEGF), its role in progression and prognosis of non-small cell lung carcinoma.
    Cancer Genet 2017 Oct 29;216-217:67-73. Epub 2017 Jul 29.
    Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir 190011, India. Electronic address:
    Elevated VEGF mRNA (-ΔCT) was significantly associated with adenocarcinoma histology (vs squamous) and advanced NSCLC clinical stages in a univariable analysis; however, this association did not remain significant in the multivariable analysis. Of interest, a Kaplan-Meier analysis showed that NSCLC patients with higher VEGF mRNA (-ΔCT ≥10) had a significantly poorer overall survival and shorter postoperative relapse time in adenocarcinoma and in stage III/IV than those with VEGF mRNA of -ΔCT <10 (P < 0.001). Read More

    RANK and EGFR in invasive breast carcinoma.
    Cancer Genet 2017 Oct 26;216-217:61-66. Epub 2017 Jul 26.
    Clinical and Molecular Oncology Laboratory, Division of Oncology, School of Medicine, University of Patras, 26504, Greece.
    Breast cancer is the most common malignancy, affecting one in eight women in North America and Europe. The human epidermal growth factor receptor (EGFR) protein comprises a major determinant of normal development but also cancer. RANK receptor (Receptor Activator of Nuclear factor-κB) is a tumor necrosis superfamily member and a binding partner for RANKL, which was recently implicated in breast cancer initiation, progression and metastasis. Read More

    First cloned human immortalized adipose derived mesenchymal stem-cell line with chimeric SS18-SSX1 gene (SS-iASC).
    Cancer Genet 2017 Oct 26;216-217:52-60. Epub 2017 Jul 26.
    1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői út 26, H-1085 Budapest, Hungary. Electronic address:
    The SS18-SSX chimeric gene is unique to synovial sarcoma. Multiple model systems including mouse cell lines expressing SS18-SSX, and genetically engineered mouse models of synovial sarcoma have been developed to elucidate the role of the chimeric gene in synovial sarcomagenesis. Although several cell lines stably expressing human SS18-SSX exist, there is an ongoing need for cell culture models enabling researchers to investigate the molecular mechanism of SS18-SSX action in a relevant cellular context. Read More

    Gene expression profiling, pathway analysis and subtype classification reveal molecular heterogeneity in hepatocellular carcinoma and suggest subtype specific therapeutic targets.
    Cancer Genet 2017 Oct 8;216-217:37-51. Epub 2017 Jul 8.
    Kusuma School of Biological Sciences, Indian Institute of Technology Delhi, Hauz Khas, New Delhi 110016, India. Electronic address:
    A very low 5-year survival rate among hepatocellular carcinoma (HCC) patients is mainly due to lack of early stage diagnosis, distant metastasis and high risk of postoperative recurrence. Hence ascertaining novel biomarkers for early diagnosis and patient specific therapeutics is crucial and urgent. Here, we have performed a comprehensive analysis of the expression data of 423 HCC patients (373 tumors and 50 controls) downloaded from The Cancer Genome Atlas (TCGA) followed by pathway enrichment by gene ontology annotations, subtype classification and overall survival analysis. Read More

    Prognostic significance of recurrent additional chromosomal abnormalities in adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia.
    Cancer Genet 2017 Oct 9;216-217:29-36. Epub 2017 Jun 9.
    Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea. Electronic address:
    In Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL), additional chromosomal abnormalities (ACAs) are frequently observed. We investigated the cytogenetic characteristics and prognostic significance of ACAs in Ph-positive ALL. We reviewed the clinical data and bone marrow cytogenetic findings of 122 adult Ph-positive ALL patients. Read More

    Significantly mutated genes and regulatory pathways in SCLC-a meta-analysis.
    Cancer Genet 2017 Oct 7;216-217:20-28. Epub 2017 Jun 7.
    Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA; UF Health Cancer Center, University of Florida, Gainesville, FL, USA; UF Genetics Institute, University of Florida, Gainesville, FL, USA. Electronic address:
    Small cell lung cancer (SCLC) accounts for approximately 15% of all lung cancers and demands effective targeted therapeutic strategies. In this meta-analysis study, we aim to identify significantly mutated genes and regulatory pathways to help us better understand the progression of SCLC and to identify potential biomarkers. Besides ranking genes based on their mutation frequencies, we sought to identify statistically significant mutations in SCLC with the MutSigCV software. Read More

    Identification of a novel CSF3R-SPTAN1 fusion gene in an atypical chronic myeloid leukemia patient with t(1;9)(p34;q34) by RNA-Seq.
    Cancer Genet 2017 Oct 24;216-217:16-19. Epub 2017 May 24.
    Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou 215006, China; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China. Electronic address:
    Membrane-proximal and truncated mutations of colony-stimulating factor 3 receptor (CSF3R) are frequently found in chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML). However, rearrangement involving CSF3R in hematological neoplasms has not been reported. Here, we report a case of a 21-year-old female diagnosed as aCML with t(1;9)(p34;q34) who presented a CSF3R rearrangement. Read More

    Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
    Cancer Genet 2017 Oct 24;216-217:159-169. Epub 2017 Aug 24.
    Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA. Electronic address:
    Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensive testing strategy. Individuals who had single-syndrome or pan-cancer hereditary cancer genetic testing from February 2004 to March 2017 were included. Read More

    Potential circulating miRNA signature for early detection of NSCLC.
    Cancer Genet 2017 Oct 7;216-217:150-158. Epub 2017 Aug 7.
    Lung Transplantation Research Center, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Circulating microRNAs (c-miRNAs) are promising biomarkers for screening, early detection and prognosis of cancer. The purpose of this investigation was to identify a panel of c-miRNAs in plasma that could contribute to early detection of non-small cell lung cancer (NSCLC). We profiled the expression of 44 unique plasma miRNAs in training set of 34 NSCLC patients and 20 matched healthy individuals by miRCURY LNA™ Universal RT microRNA PCR Panel and calculated dysregulation fold changes using the 2-ΔΔCt equation. Read More

    Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-IS) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.
    Cancer Genet 2017 Oct 4;216-217:142-149. Epub 2017 Aug 4.
    College of Medicine and Public Health, Flinders University, Adelaide, SA, Australia; Hematology, Molecular Medicine and Pathology, Bedford Park, SA Australia. Electronic address:
    Chronic lymphocytic leukemia (CLL) has an extremely heterogeneous clinical course, and prognostication is based on common genetic abnormalities which are detected by standard cytogenetic methods. However, current methods are restricted by the low number of cells able to be analyzed, resulting in the potential to miss clinically relevant sub-clonal populations of cells. A novel high throughput methodology called fluorescence in situ hybridization in suspension (FISH-IS) incorporates a flow cytometry-based imaging approach with automated analysis of thousands of cells. Read More

    Addition of chromosomal microarray and next generation sequencing to FISH and classical cytogenetics enhances genomic profiling of myeloid malignancies.
    Cancer Genet 2017 Oct 14;216-217:128-141. Epub 2017 Aug 14.
    PathGroup, Nashville, TN.
    Comprehensive genetic profiling is increasingly important for the clinical workup of hematologic tumors, as specific alterations are now linked to diagnostic characterization, prognostic stratification and therapy selection. To characterize relevant genetic and genomic alterations in myeloid malignancies maximally, we utilized a comprehensive strategy spanning fluorescence in situ hybridization (FISH), classical karyotyping, Chromosomal Microarray (CMA) for detection of copy number variants (CNVs) and Next generation Sequencing (NGS) analysis. In our cohort of 569 patients spanning the myeloid spectrum, NGS and CMA testing frequently identified mutations and copy number changes in the majority of genes with important clinical associations, such as TP53, TET2, RUNX1, SRSF2, APC and ATM. Read More

    Prognostic classification of MDS is improved by the inclusion of FISH panel testing with conventional cytogenetics.
    Cancer Genet 2017 Oct 16;216-217:120-127. Epub 2017 Aug 16.
    Cytogenetics division, SRL Diagnostic Ltd., Prime Square Building, Gaiwadi Industrial Estate, S.V.Road, Goregaon, Mumbai 400 062, India. Electronic address:
    Cytogenetics is a critical independent prognostic factor in myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and Fluorescence in situ hybridization (FISH) Panel Testing are extensively used for the prognostic stratification of MDS, although the FISH test is not yet a bona fide component of the International Prognostic Scoring System (IPSS). The present study compares the utility of CC and FISH to detect chromosomal anomalies and in prognostic categorization. Read More

    Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.
    Cancer Genet 2017 Oct 17;216-217:111-119. Epub 2017 Aug 17.
    Division of Clinical Cancer Genomics, City of Hope National Medical Center, 1500 E. Duarte Rd., Bldg 173, Duarte, CA 91010; Department of Medical Oncology & Therapeutics Research, City of Hope National Medical Center, Duarte, CA 91010.
    Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. Read More

    Regulatory mechanisms of long noncoding RNAs on gene expression in cancers.
    Cancer Genet 2017 Oct 9;216-217:105-110. Epub 2017 Aug 9.
    Department of Biochemistry and Molecular Biology, Zhejiang Key Laboratory of Pathophysiology, Medical School of Ningbo University, Ningbo, PR China. Electronic address:
    Long non-coding RNAs (lncRNAs) are a heterogeneous class of RNAs that are non-protein coding transcripts longer than 200 nucleotides. In this review, we introduce the mechanisms by which lncRNAs regulate gene expression in four parts, epigenetic regulation (genetic imprinting and chromatin remodeling), transcriptional regulation (molecular decoy), post-transcriptional regulation (splicing and mRNA decay), and translational regulation. H19, Xist, and others are involved in genomic imprinting. Read More

    A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion.
    Cancer Genet 2017 Oct 9;216-217:100-104. Epub 2017 Aug 9.
    Genetics Department, Children's Hospital of Eastern Ontario, Ottawa, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada. Electronic address:
    Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often lead to the fusion of the HMGA2 gene at this locus to the transcriptional regulatory domain of its fusion partner, resulting in neomorphic activity that presumably facilitates the neoplastic process. Herein, we report a rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion in a 9 year-old boy. This case provides further evidence of the link between NFIB rearrangement and early-onset, deep-seated lipomatous tumors. Read More

    A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia.
    Cancer Genet 2017 Oct 10;216-217:10-15. Epub 2017 May 10.
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:
    FLT3 fusions are associated with myeloid and lymphoid neoplasms with eosinophilia. We describe a patient presenting with clinicopathologic features of both chronic eosinophilic leukemia, not otherwise specified (CEL, NOS) and systemic mastocytosis (SM). The bone marrow demonstrated a myeloproliferative neoplasm with eosinophilia and aggregates of atypical mast cells. Read More

    Clonal chromosomal aberrations in Philadelphia negative cells such as monosomy 7 and trisomy 8 may persist for years with no impact on the long term outcome in patients with chronic myeloid leukemia.
    Cancer Genet 2017 Oct 28;216-217:1-9. Epub 2017 Apr 28.
    Department of Clinical Genetics, Medical University of Bialystok, 13 Waszyngtona Street, 15-089 Białystok, Poland.
    The appearance of clonal chromosomal aberrations in Philadelphia negative cells (CCA/Ph-) during the treatment of chronic myeloid leukemia (CML) was recently confirmed. Importance of these findings has not been clearly defined. We present data on the time of appearance, persistence, size of the CCA/Ph- clone in terms of drugs used and hematological, cytogenetic and molecular response rates. Read More

    Clinical utility of emerging liquid biomarkers in advanced prostate cancer.
    Cancer Genet 2017 Aug 25. Epub 2017 Aug 25.
    Vancouver Prostate Centre, Department of Urologic Sciences, University of British Columbia, 2660 Oak Street, Vancouver, British Columbia, Canada V6H 3Z6. Electronic address:
    The therapeutic landscape of advanced prostate cancer (PCa) has rapidly expanded in recent years. Despite significant improvements in patient overall survival, it remains challenging to determine the optimal therapy and sequence of therapies for individual patients. The development of molecular biomarkers will be key for patient stratification, and for monitoring response and resistance to therapy. Read More

    A novel cytogenetic and molecular characterization of renal metanephric adenoma: Identification of partner genes involved in translocation t(9;15)(p24;q24).
    Cancer Genet 2017 Aug 16;214-215:9-15. Epub 2017 Mar 16.
    Department of Cytogenetics, ACL Laboratories, Rosemont, Illinois, USA; Department of Pathology, Advocate Lutheran General Hospital, Park Ridge, Illinois, USA; Advocate Medical Group Genetics, Park Ridge, Illinois, USA. Electronic address:
    Renal metanephric adenoma (MA) is a rare benign tumor frequently misclassified when microscopic features alone are applied. The correct classification of a renal tumor is critical for diagnostic, prognostic, and therapeutic purposes. Despite the advancements in cancer genomics, up until recently relatively few genetic alterations critical to MA development have been recognized. Read More

    The novel double-hit, t(8;22)(q24;q11)/MYC-IGL and t(14;15)(q32;q24)/IGH-BCL2A1, in diffuse large B-cell lymphoma.
    Cancer Genet 2017 Aug 4;214-215:26-31. Epub 2017 Apr 4.
    Department of Hematology, Tenri Hospital, Japan; Tenri Institute of Medical Research, Japan.
    An 82-year-old woman presented with generalized lymphadenopathy and skin involvement. Lymph node biopsy revealed diffuse large B-cell lymphoma with a high proliferation index. G-banding and fluorescence in situ hybridization showed a hypertetraploid karyotype with two copies of t(8;22)(q24;q11), generating the fusion of MYC and the immunoglobulin λ chain gene (IGL), and two copies of the novel immunoglobulin heavy chain gene (IGH) translocation, t(14;15)(q32;q24). Read More

    Single nucleotide polymorphisms in an Indian cohort and association of CNTN4, MMP2 and SNTB1 variants with oral cancer.
    Cancer Genet 2017 Aug 23;214-215:16-25. Epub 2017 Mar 23.
    Department of Biological Sciences, Sunandan Divatia School of Science, NMIMS (deemed-to-be) University, Vile Parle, Mumbai 400056, India. Electronic address:
    Oral cancer is a high incidence cancer in India primarily due to the prevalent tobacco/areca nut chewing habits and hence a major health concern. India constitutes 26% of the global oral cancer burden. Besides the well-established risk factors, the genomic constitution of an individual plays a role in oral cancer. Read More

    Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.
    Cancer Genet 2017 Aug 22;214-215:1-8. Epub 2017 Mar 22.
    Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Ireland.
    Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification (MLPA), and account for 5-17% mutations in different populations. Read More

    Effects of polymorphisms identified in genome-wide association studies of never-smoking females on the prognosis of non-small cell lung cancer.
    Cancer Genet 2017 Apr 20;212-213:8-12. Epub 2017 Mar 20.
    Departments of Internal Medicine, Kyungpook National University School of Medicine, Daegu, South Korea; Biochemistry and Cell Biology, Kyungpook National University School of Medicine, Daegu, South Korea. Electronic address:
    A number of genome-wide association studies have reported several variants that influence the risk of lung cancer in never-smoking females. We evaluated the impact of these variants on survival outcome in never-smoking females with non-small cell lung cancer (NSCLC). In total, 510 never-smoking females with NSCLC who underwent curative surgery were enrolled. Read More

    Novel t(5;11)(q32;q13.4) with NUMA1-PDGFRB fusion in a myeloid neoplasm with eosinophilia with response to imatinib mesylate.
    Cancer Genet 2017 Apr 27;212-213:38-44. Epub 2017 Mar 27.
    University of Maryland Greenebaum Comprehensive Cancer Center, Baltimore, MD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD. Electronic address:
    We report a NUMA1-PDGFRB fusion in a myeloproliferative neoplasm with eosinophilia in a 61-year old man, with response to imatinib mesylate therapy. A t(5;11) chromosome translocation involving bands 5q32 and 11q13.4 was identified by metaphase chromosome analysis, and rearrangement of the platelet-derived growth factor receptor beta (PDGFRB) gene on 5q32 was demonstrated by FISH using a PDGFRB break-apart probe set. Read More

    Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma.
    Cancer Genet 2017 Apr 22;212-213:32-37. Epub 2017 Mar 22.
    Department of Paediatrics and Adolescent Medicine, Neuroscience Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
    Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. Read More

    Validation of quantitative PCR-based assays for detection of gene copy number aberrations in formalin-fixed, paraffin embedded solid tumor samples.
    Cancer Genet 2017 Apr 20;212-213:24-31. Epub 2017 Mar 20.
    Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States. Electronic address:
    Gene copy number changes are important somatic alterations in cancers. A number of high throughput methods, such as next generation sequencing, are capable of detecting copy number aberrations, but their use can be challenging and cost prohibitive for screening a small number of markers. Furthermore, detection of CNAs by high throughput platforms needs confirmation by an orthogonal technique, especially in cases with low level CNAs. Read More

    Cancer in Machado-Joseph disease patients-low frequency as a cause of death.
    Cancer Genet 2017 Apr 30;212-213:19-23. Epub 2017 Mar 30.
    Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil; Laboratório de Identificação Genética, Hospital de Clínicas de Porto Alegre, Brazil; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Rio de Janeiro, Brazil. Electronic address:
    Since polyglutamine diseases have been related to a reduced risk of cancer, we aimed to study the 15 years cumulative incidence of cancer (CIC) (arm 1) and the proportion of cancer as a cause of death (arm 2) in symptomatic carriers of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). SCA3/MJD and control individuals from our state were invited to participate. A structured interview was performed. Read More

    1 OF 12