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    580 results match your criteria Cancer Genetics [Journal]

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    EGFL7 and RASSF1 promoter hypermethylation in epithelial ovarian cancer.
    Cancer Genet 2018 Aug 17;224-225:37-40. Epub 2018 Apr 17.
    Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 10400, Thailand.
    DNA methylation is one of the epigenetic mechanisms associated with gene expression and plays a key role as in activation and deactivation of oncogenes and tumor suppressor genes, respectively. This study employed DNA methylation array to identify methylated genes which are highly correlated with various phenotypes of epithelial ovarian cancer (EOC) in Thai patients and to quantify promoter CpG-island methylation of candidate genes. Tissues from patients with serous and non-serous EOC showed significantly higher promoter methylation of EGFL7 and RASSF1 compared to benign cases. Read More

    Female-specific association among I, J and K mitochondrial genetic haplogroups and cancer: A longitudinal cohort study.
    Cancer Genet 2018 Aug 11;224-225:29-36. Epub 2018 Apr 11.
    National Research Council, Neuroscience Institute, Aging Branch, Padova, Italy; Institute for clinical Research and Education in Medicine (IREM), Padova, Italy.
    Recent studies highlighted the role of mitochondrial dysregulation in cancer, suggesting that the different mitochondrial haplogroups might play a role in tumorigenesis and risk of cancer development. Our aim is to investigate whether any mitochondrial haplogroups carried a significant higher risk of cancer development in a large prospective cohort of North American people. The haplogroup assignment was performed by a combination of sequencing and PCR-RFLP techniques. Read More

    Nuclear BAP1 loss is common in intrahepatic cholangiocarcinoma and a subtype of hepatocellular carcinoma but rare in pancreatic ductal adenocarcinoma.
    Cancer Genet 2018 Aug 9;224-225:21-28. Epub 2018 Apr 9.
    National Liver Institute Sustainable Sciences Institute Collaborative Research Center (NLISSICRC), Menoufia University, Egypt; Department of pathology, National Liver Institute (NLI), Menoufia University, Egypt; Department of Ophthalmology, The Ohio State University, Columbus, OH, US; Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, US. Electronic address:
    Deletion in the 3p21 region, the chromosomal location of BAP1, has been reported in a subset of hepatocellular carcinoma (HCC), biliary and pancreatic cancers. This suggests that BAP1 could play a role in the pathogenesis of these tumors. We assessed the frequency of BAP1 loss by immunohistochemistry in 103 hepatic, biliary and pancreatic cancers. Read More

    Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.
    Cancer Genet 2018 Aug 6;224-225:12-20. Epub 2018 Apr 6.
    Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA, 92656, USA.
    Clinical diagnostic exome sequencing (DES) has been effective in diagnosing individuals with suspected genetic conditions; nevertheless little has been described regarding its clinical utility in individuals with a personal and family history of cancer. This study aimed to assess diagnostic yield and clinical characteristics of pediatric and adult patients undergoing germline DES for hereditary cancer. We retrospectively reviewed 2171 patients referred for DES; cases with a personal and/or family history of cancer were further studied. Read More

    ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL): The spectrum of clonal heterogeneity and its impact on prognosis.
    Cancer Genet 2018 Aug 27;224-225:1-11. Epub 2018 Mar 27.
    Department of Pediatric Hematology-Oncology, "Aghia Sophia" Childrens' Hospital, Athens, Greece.
    The prognostic significance of the ETV6/RUNX1-fusion and of the accompanying aberrations is disputable; whether co-existing sub-clones are responsible for delayed MRD-clearance and thus, moderate outcome, remains to be clarified. We studied, in a paediatric cohort of 119 B-ALLs, the relation between the ETV6/RUNX1 aberration and the co-existing subclones with (a) presenting clinical/biological features, (b) early response to treatment(MRD) and (c) long-term outcome over a 12-year period. Patients were homogeneously treated according to BFM-based-protocols. Read More

    H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia.
    Cancer Genet 2018 Apr 17;222-223:9-12. Epub 2018 Feb 17.
    Department of Haematology, Jingjiang People's Hospital, the Seventh Affiliated Hospital of Yangzhou University, Jingjiang, Jiangsu, China. Electronic address:
    The MECOM gene encoding a zinc finger protein that functions as a transcription factor, was located on chromosome 3q26, and rearrangements of MECOM often cause its overexpression in acute myeloid leukemia (AML). We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the whole transcriptome sequencing, who carried out abnormal karyotype of 46,XY,t(3;5)(q27;q31),add(14)(p11). We validated the existence of the unreported H2AFY-MECOM fusion gene by RT-PCR and Sanger DNA sequencing, and detected mutations of NRAS and BCOR in this patient. Read More

    Mutation analysis of therapy-related myeloid neoplasms.
    Cancer Genet 2018 Apr 8;222-223:38-45. Epub 2018 Mar 8.
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address:
    We analyzed the genetic mutation status of 13 patients with therapy-related myeloid neoplasms (t-MN). Consistent with previous reports, t-MN cells preferentially acquired mutations in TP53 and epigenetic modifying genes, instead of mutations in tyrosine kinase and spliceosome genes. Furthermore, we compared the mutation status of three t-MN cells with each of the initial lymphoid malignant cells, and identified common mutations among t-MN and the initial malignant cells in two patients. Read More

    Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia.
    Cancer Genet 2018 Apr 5;222-223:32-37. Epub 2018 Feb 5.
    Departamento de Hematologia, Laboratório de Citogenética, Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, BR Av. Dr. Eneas de Carvalho 255, Cerqueira César 01246-000, São Paulo, SP, Brazil; Hospital Israelita Albert Einstein. Av. Albert Einstein, 627/701 Morumbi 05652- 900 - São Paulo, SP, Brazil. Electronic address:
    Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. Read More

    Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2 loci.
    Cancer Genet 2018 Apr 3;222-223:25-31. Epub 2018 Feb 3.
    University of Arizona, Banner University Medical Center, United States; Cytogenetic Laboratory at Banner University Medical Center, United States; University of Arizona Genetic Core for Clinical Services Laboratory, Tucson, AZ, United States. Electronic address:
    High grade B-cell lymphoma (HGBCL) by WHO 2016 classification requires rearrangements of MYC and BCL2 and/or BCL6, practically covering the so called "double-hit" or "triple hit" lymphomas. We report a case of HGBCL "triple-hit" lymphoma in a 64-year old female. Cytogenetic and fluorescence in situ hybridization (FISH) studies revealed complex karyotype including rearrangement of MYC to a novel, non-IG partner on chromosome 18, and rearrangement of BCL2, BCL6 and IGH as well as ins(3)(q21q27. Read More

    Biallelic TP53 gain of function mutations in rapidly progressing solid tumors.
    Cancer Genet 2018 Apr 24;222-223:20-24. Epub 2018 Feb 24.
    Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City 52241, IA, USA . Electronic address:
    Recent studies are discovering TP53 mutations with gain of function (GOF) properties that promote tumorigenesis via a variety of mechanisms. To our knowledge, all reported compound mutations are allelic. We identified two patients with biallelic GOF TP53 mutations in their tumors and a third with allelic compound variants. Read More

    Long noncoding RNA CCAT1 polymorphisms are associated with the risk of colorectal cancer.
    Cancer Genet 2018 Apr 24;222-223:13-19. Epub 2018 Feb 24.
    Department of Public Health, Hangzhou Medical College, Hangzhou, Zhejiang, China. Electronic address:
    Colorectal cancer associated transcript 1 (CCAT1) is a novel long noncoding RNA, whose overexpression is evident in both early phase of tumorigenesis and later disease stages in colorectal cancer (CRC). No study has explored the relationship between CCAT1 polymorphisms and CRC risk. In the present study, a case-control study was conducted to investigate the association between CCAT1 polymorphisms and CRC risk in Chinese population. Read More

    Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.
    Cancer Genet 2018 Apr 19;222-223:1-8. Epub 2018 Feb 19.
    Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. Electronic address:
    Black women are disproportionately affected by uterine leiomyomata (UL), or fibroids, compared to other racial groups, having a greater lifetime risk of developing UL and an earlier age of diagnosis. In order to elucidate molecular and genetic mechanisms responsible for the increased prevalence and morbidity associated with UL in black women, clinical, pathologic, cytogenetic, and select molecular profiling (MED12 mutation analysis) of 75 self-reported black women undergoing surgical treatment for UL was performed. Our observations are broadly representative of previous cytogenetic studies of UL: karyotypically abnormal tumors were detected in 30. Read More

    Circulating cell-free DNA for non-invasive cancer management.
    Cancer Genet 2018 Mar 11. Epub 2018 Mar 11.
    Marie-José and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, Box 20, New York, NY 10065, USA; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address:
    Cell-free DNA (cfDNA) was first identified in human plasma in 1948 and is thought to be released from cells throughout the body into the circulatory system. In cancer, a portion of the cfDNA originates from tumour cells, referred to as circulating-tumour DNA (ctDNA), and can contain mutations corresponding to the patient's tumour, for instance specific TP53 alleles. Profiling of cfDNA has recently become an area of increasing clinical relevance in oncology, in particular due to advances in the sensitivity of molecular biology techniques and development of next generation sequencing technologies, as this allows tumour mutations to be identified and tracked non-invasively. Read More

    Analysis of circulating tumor DNA in breast cancer as a diagnostic and prognostic biomarker.
    Cancer Genet 2018 Feb 24. Epub 2018 Feb 24.
    Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:
    Despite all the advances in diagnosis and treatment of breast cancer, a large number of patients suffer from late diagnosis or recurrence of their disease. Current available imaging modalities do not reveal micrometastasis and tumor biopsy is an invasive method to detect early stage or recurrent cancer, signifying the need for an inexpensive, non-invasive diagnostic modality. Cell-free tumor DNA (ctDNA) has been tried for early detection and targeted therapy of breast cancer, but its diagnostic and prognostic utility is still under investigation. Read More

    Comparison of 4 commercial kits for the extraction of circulating DNA from plasma.
    Cancer Genet 2018 Mar 6. Epub 2018 Mar 6.
    Division of Cancer Prevention, National Cancer Institute, Bethesda, Maryland, USA. Electronic address:
    The utility of circulating DNA as a source of clinical biomarkers in blood is limited by its low concentration and small fragment size. Effective purification methods can maximize circulating DNA yield and contribute to the success of downstream protocols. We describe the evaluation of 4 commercial DNA purification kits-QIAamp Circulating Nucleic Acids kit, QIAamp DNA Blood Mini kit, QIAamp Ultrasens Virus kit and the QIASymphony DSP Virus kit-for the extraction of high and low molecular weight DNA from blood plasma. Read More

    Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.
    Cancer Genet 2018 Feb 23;221:46-52. Epub 2017 Dec 23.
    Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:
    In Iran, esophageal cancer is the fourth common cancers in women and sixth common cancers in men. Here we evaluated the importance of familial risk factors and the role of genetic predisposition in Esophageal Squamous Cell Carcinoma (ESCC) using Whole-Exome Sequencing (WES). Germline damaging mutations were identified in WES data from 9 probands of 9 unrelated ESCC pedigrees. Read More

    Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition.
    Cancer Genet 2018 Feb 29;221:38-45. Epub 2017 Dec 29.
    Unit of Molecular Bases of Genetic Risk and Genetic Testing, Research Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Amadeo 42, 20133, Milan, Italy.
    Carcinosarcomas (CSs) are biphasic neoplasms composed of high grade, malignant, epithelial and mesenchymal elements. The incidence of gynecological CSs (GCSs) is 0.4/100,000 women per year. Read More

    ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review.
    Cancer Genet 2018 Feb 12;221:31-37. Epub 2017 Dec 12.
    Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of Nice (IRCAN), CNRS UMR 7284/INSERM U1081, Nice, France; Laboratory of Solid Tumor Genetics, University Hospital of Nice-Côte d'Azur University, Nice, France. Electronic address:
    Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional RCC. The first three cases were pediatric, medullary-based, associated with sickle-cell trait and showed a fusion of ALK with VCL. Thirteen cases have been further described. Read More

    Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm.
    Cancer Genet 2018 Feb 19;221:25-30. Epub 2017 Dec 19.
    Cytogenetics Department, Bone Marrow Transplantation Unit, Instituto Nacional de Câncer José de Alencar Gomes da Silva (INCA-RJ), Rio de Janeiro, Brazil; Post-Graduate Program in Oncology, Instituto Nacional de Câncer José de Alencar Gomes da Silva (INCA-RJ), Rio de Janeiro, Brazil; Internal Medicine post-graduation program of Faculty of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil. Electronic address:
    Myeloid neoplasms are a heterogeneous group of hematologic disorders with divergent patterns of cell differentiation and proliferation, as well as divergent clinical courses. Rare recurrent genetic abnormalities related to this group of cancers are associated with poor outcomes. One such abnormality is the MECOM gene rearrangement that typically occurs in cases with chromosome 7 abnormalities. Read More

    Characterization of novel, large duplications in the MSH2 gene of three unrelated Lynch syndrome patients.
    Cancer Genet 2018 Feb 27;221:19-24. Epub 2017 Dec 27.
    Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy. Electronic address:
    Lynch syndrome (LS) is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2. Most of genetic variants in the MMR genes predisposing to LS are point mutations, small deletions and insertions but large genomic rearrangements in the MMR genes also predisposing to Lynch syndrome. In this study, we report a novel, large rearrangement of the MSH2 gene, manifested by a duplication spanning a 14,846-bps region from intron 7 through intron 9. Read More

    SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).
    Cancer Genet 2018 Feb 2;221:1-18. Epub 2017 Dec 2.
    Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester MN, USA; Department of Molecular Medicine, Mayo Clinic, Rochester MN, USA. Electronic address:
    Mate-pair sequencing (MPseq), using long-insert, paired-end genomic libraries, is a powerful next-generation sequencing-based approach for the detection of genomic structural variants. SVAtools is a set of algorithms to detect both chromosomal rearrangements and large (>10 kb) copy number variants (CNVs) in genome-wide MPseq data. SVAtools can also predict gene disruptions and gene fusions, and characterize the genomic structure of complex rearrangements. Read More

    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 (-ΔC) 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 (-ΔC ≥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 -ΔC <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

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