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Cancer Genetics

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https://www.readbyqxmd.com/read/29405996/familial-esophageal-squamous-cell-carcinoma-with-damaging-rare-germline-mutations-in-kcnj12-kcnj18-and-gprin2-genes
#1
Narjes Khalilipour, Ancha Baranova, Amir Jebelli, Alireza Heravi-Moussavi, Sergey Bruskin, Mohammad Reza Abbaszadegan
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. Mutations were confirmed with Sanger sequencing and evaluated amplification-refractory mutation system-Polymerase Chain Reaction (ARMS-PCR) in 50 non-related ethnically matched samples and in complete genomics database...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29405995/survey-of-gynecological-carcinosarcomas-in-families-with-breast-and-ovarian-cancer-predisposition
#2
Carla B Ripamonti, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Maria Luisa Carcangiu, Paolo Radice
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. Patients affected with GCSs have been occasionally reported in Hereditary Breast Ovarian Cancer (HBOC) families, including a few cases with pathogenic variants in BRCA1/BRCA2 genes. The prevalence and the association of GCSs in HBOC families have not been systematically investigated. Thus, we searched for families with GCSs in the HBOC registry of the National Cancer Institute of Milan...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29405994/alk-tpm3-rearrangement-in-adult-renal-cell-carcinoma-report-of-a-new-case-showing-loss-of-chromosome-3-and-literature-review
#3
Yohan Bodokh, Damien Ambrosetti, Valérie Kubiniek, Branwel Tibi, Matthieu Durand, Jean Amiel, Morgane Pertuit, Anne Barlier, Florence Pedeutour
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. They displayed clinical, morphological and genomic heterogeneity. Most of them occurred in adults. None of the patients was affected by sickle-cell disease...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29405993/molecular-approaches-identify-a-cryptic-mecom-rearrangement-in-a-child-with-a-rapidly-progressive-myeloid-neoplasm
#4
Roberto R Capela de Matos, Moneeb A K Othman, Gerson M Ferreira, Elaine S Costa, Joana B Melo, Isabel M Carreira, Mariana T de Souza, Bruno A Lopes, Mariana Emerenciano, Marcelo G P Land, Thomas Liehr, Raul C Ribeiro, Maria Luiza M Silva
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. MECOM encodes a transcription factor that plays an essential role in cell proliferation and maintenance and also in epigenetic regulation...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29405992/characterization-of-novel-large-duplications-in-the-msh2-gene-of-three-unrelated-lynch-syndrome-patients
#5
Raffaella Liccardo, Marina De Rosa, Giovanni Battista Rossi, Gabriele Rigler, Paola Izzo, Francesca Duraturo
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. The breakpoints of this rearrangement were characterized by sequencing...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29405991/svatools-for-junction-detection-of-genome-wide-chromosomal-rearrangements-by-mate-pair-sequencing-mpseq
#6
Sarah H Johnson, James B Smadbeck, Stephanie A Smoley, Athanasios Gaitatzes, Stephen J Murphy, Faye R Harris, Travis M Drucker, Roman M Zenka, Beth A Pitel, Ross A Rowsey, Nicole L Hoppman, Umut Aypar, William R Sukov, Robert B Jenkins, Andrew L Feldman, Hutton M Kearney, George Vasmatzis
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. To illustrate the power of SVAtools' junction detection methods to provide comprehensive molecular karyotypes, MPseq data were compared against a set of samples previously characterized by traditional cytogenetic methods...
February 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310839/decoding-colorectal-cancer-epigenomics
#7
REVIEW
Khalid El Bairi, Kanwal Tariq, Imane Himri, Abdeslam Jaafari, Wiam Smaili, Abdul Hafeez Kandhro, Adel Gouri, Bouchra Ghazi
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. In this review, we provide an evidence-based discussing of the current understanding of CRC epigenomics and its role in initiation, epithelial-to-mesenchymal transition and metastasis...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310838/a-leukemic-double-hit-follicular-lymphoma-associated-with-a-complex-variant-translocation-t-8-14-18-q24-q32-q21-involving-bcl2-myc-and-igh
#8
Daisuke Minakata, Kazuya Sato, Takashi Ikeda, Yumiko Toda, Shoko Ito, Kiyomi Mashima, Kento Umino, Hirofumi Nakano, Ryoko Yamasaki, Kaoru Morita, Yasufumi Kawasaki, Miyuki Sugimoto, Chihiro Yamamoto, Masahiro Ashizawa, Kaoru Hatano, Iekuni Oh, Shin-Ichiro Fujiwara, Ken Ohmine, Hirotoshi Kawata, Kazuo Muroi, Ikuo Miura, Yoshinobu Kanda
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. The patient was leukemic and the pathological diagnosis of the inguinal lymph node was FL grade 1. Chromosomal analysis revealed a complex karyotype including a rare three-way translocation t(8;14;18)(q24;q32;q21) involving the BCL2, MYC, and IGH genes...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310837/assessment-of-a-fbxw8-frameshift-mutation-c-1312_1313delgt-in-breast-cancer-patients-and-controls-from-central-europe
#9
Jing Wang, Natalia Bogdanova, Peter Schürmann, Tjoung-Won Park-Simon, Robert Geffers, Thilo Dörk
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...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310836/circulating-long-non-coding-rna-malat1-expression-as-molecular-biomarker-in-egyptian-patients-with-breast-cancer
#10
Haidy E Zidan, Rehab A Karam, Omnia S El-Seifi, Tamer M Abd Elrahman
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. This study comprised 80 patients with breast cancer and 80 controls. MALAT1 expression was measured by RT-quantitative polymerase chain reaction (qPCR). CA15-3 was estimated using chemiluminescence immunoassay (CLIA)...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310835/april-gene-expression-in-a-cohort-of-egyptian-acute-myeloid-leukemia-patients-clinical-and-prognostic-significance
#11
Amira Ahmed Hammam, Shereen Mohamed Elhoseiny, Rania El-Sayed Sheir, Hisham Issa
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. We investigated the expression level of APRIL mRNA in 50 de novo acute myeloid leukemia (AML) patients, together with 20 healthy controls using a Real-Time Quantitative Reverse-Transcriptase Polymerase Chain Reaction (RTQ-PCR) with a specific aim of determining its relation to clinical features and laboratory findings at diagnosis and its impact on the response to therapy...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310834/genetic-analysis-and-clinical-description-of-greek-patients-with-peutz-jeghers-syndrome-creation-of-a-national-registry
#12
Florentia Fostira, Vasiliki Mollaki, George Lypas, George Alexandrakis, Efstratios Christianakis, Maria Tzouvala, Eirini Zacharopoulou, Despoina Kalfakakou, Irene Konstantopoulou, Drakoulis Yannoukakos
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. STK11 loss-of-function (LoF) mutations were detected in 87.5% of index patients...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310833/myeloid-neoplasm-with-eosinophilia-associated-with-isolated-extramedullary-fip1l1-pdgfra-rearrangement
#13
Talal Hilal, Veena Fauble, Rhett P Ketterling, Katalin Kelemen
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. The patient was treated with imatinib at a dose of 100 mg daily and responded with normalization of his peripheral eosinophil count...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29310832/comprehensive-brca-mutation-analysis-in-the-greek-population-experience-from-a-single-clinical-diagnostic-center
#14
Angela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, Georgios N Tsaousis, Eirini Papadopoulou, Vasiliki Metaxa-Mariatou, Angeliki Tsirigoti, Chrysoula Efstathiadou, Christos Markopoulos, Grigorios Xepapadakis, Vasileios Venizelos, Aris Tsiftsoglou, Ioannis Natsiopoulos, George Nasioulas
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...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29153099/b-cell-acute-lymphoblastic-leukemia-with-der-1-t-1-19-p13-p13-1-arising-in-the-setting-of-calr-exon-9-mutated-essential-thrombocythemia
#15
LETTER
Talal Hilal, Christopher R Conley
No abstract text is available yet for this article.
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153098/high-amplification-levels-of-mdm2-and-cdk4-correlate-with-poor-outcome-in-patients-with-dedifferentiated-liposarcoma-a-cytogenomic-microarray-analysis-of-47-cases
#16
Robert W Ricciotti, Aaron J Baraff, George Jour, McKenna Kyriss, Yu Wu, Yuhua Liu, Shao-Chun Li, Benjamin Hoch, Yajuan J Liu
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. To this end, we studied 49 cases of DDLS in our institutional archives and performed cytogenomic microarray analysis on 47 cases. Gene copy numbers for 12 loci were evaluated and correlated with outcome data retrieved from our institutional electronic medical records...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153097/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
#17
Eric T Rosenthal, Ryan Bernhisel, Krystal Brown, John Kidd, Susan Manley
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. The majority of individuals (92.8%) met testing criteria for Hereditary Breast and Ovarian Cancer (HBOC) and/or Lynch syndrome (LS)...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153096/correlations-between-microsatellite-instability-ercc1-xrcc1-polymorphism-and-clinical-characteristics-and-folfox-adjuvant-chemotherapy-effect-of-colorectal-cancer-patients
#18
Liping Zhang, Jiangman Zhao, Bin Yu, Xinjiang Song, Guogang Sun, Lijiang Han, Lu Wang, Shu Dong
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...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153095/circulating-cell-free-dna-mutation-patterns-in-early-and-late-stage-colon-and-pancreatic-cancer
#19
Eveline E Vietsch, Garrett T Graham, Justine N McCutcheon, Aamir Javaid, Giuseppe Giaccone, John L Marshall, Anton Wellstein
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. This potential for molecular analysis makes ccfDNA attractive for the study of clonal evolution and for uncovering emerging therapeutic resistance or sensitivity...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29153094/differences-between-chronic-lymphocytic-leukaemia-and-small-lymphocytic-lymphoma-cells-by-proteomic-profiling-and-snp-microarray-analysis
#20
Jennifer A Tooze, Edita Hamzic, Fenella Willis, Ruth Pettengell
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...
December 2017: Cancer Genetics
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