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Genes, Chromosomes & Cancer

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https://www.readbyqxmd.com/read/28791770/a-novel-apc-promoter-1b-deletion-shows-a-founder-effect-in-italian-patients-with-classical-familial-adenomatous-polyposis-phenotype
#1
Monica Marabelli, Viviana Gismondi, Maria Teresa Ricci, Annalisa Vetro, Raefa Abou Khouzam, Valentina Rea, Marco Vitellaro, Orsetta Zuffardi, Liliana Varesco, Guglielmina Nadia Ranzani
Familial adenomatous polyposis is a Mendelian syndrome in which germline loss-of-function mutations of APC are associated with multiple adenomatous polyps of the large bowel, a multiplicity of extracolonic features, and a high lifetime risk of colorectal cancer. Different APC germline mutations have been identified, including sequence changes, genomic rearrangements, and expression defects. Recently, very rare families have been associated with constitutive large deletions encompassing the APC-5' regulatory region, while leaving the remaining gene sequence intact; the regulatory region contains a proximal and a distal promoter, called 1A and 1B, respectively...
August 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28779490/blocking-protein-quality-control-to-counter-hereditary-cancers
#2
REVIEW
Caroline Kampmeyer, Sofie V Nielsen, Lene Clausen, Amelie Stein, Anne-Marie Gerdes, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Inhibitors of molecular chaperones and the ubiquitin-proteasome system have already been clinically implemented to counter certain cancers, including multiple myeloma and mantle cell lymphoma. The efficacy of this treatment relies on genomic alterations in cancer cells causing a proteostatic imbalance, which makes them more dependent on protein quality control (PQC) mechanisms than normal cells. Accordingly, blocking PQC, e.g. by proteasome inhibitors, may cause a lethal proteotoxic crisis in cancer cells, while leaving normal cells unaffected...
August 4, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28758283/copy-number-profiling-of-adult-relapsed-b-cell-precursor-acute-lymphoblastic-leukemia-reveals-potential-leukemia-progression-mechanisms
#3
Jordi Ribera, Lurdes Zamora, Mireia Morgades, Mar Mallo, Neus Solanes, Montserrat Batlle, Susana Vives, Isabel Granada, Jordi Juncà, Roberto Malinverni, Eulàlia Genescà, Ramon Guàrdia, Santiago Mercadal, Lourdes Escoda, Joaquín Martinez-Lopez, Mar Tormo, Jordi Esteve, Marta Pratcorona, Carmen Martinez-Losada, Francesc Solé, Evarist Feliu, Josep Maria Ribera
The outcome of relapsed adult acute lymphoblastic leukemia (ALL) remains dismal despite new therapeutic approaches. Previous studies analyzing relapse samples have shown a high degree of heterogeneity regarding gene alterations without an evident relapse signature. Bone marrow or peripheral blood samples from 31 adult B-cell precursor ALL patients at first relapse, and 21 paired diagnostic samples were analyzed by multiplex ligation probe-dependent amplification (MLPA). Nineteen paired diagnostic and relapse samples of these 21 patients were also analyzed by SNP arrays...
July 30, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28758277/fusion-of-the-genes-brd8-and-phf1-in-endometrial-stromal-sarcoma
#4
Francesca Micci, Marta Brunetti, Paola Dal Cin, Marisa R Nucci, Ludmila Gorunova, Sverre Heim, Ioannis Panagopoulos
We present a new endometrial stromal sarcoma (ESS)-associated genomic rearrangement involving chromosome arms 5p and 6p and leading to the formation of a BRD8-PHF1 fusion gene. The PHF1 (PHD finger protein 1) gene, from 6p21, is known to be rearranged in ESS in a promiscuous way inasmuch as it has been shown to recombine with JAZF1, EPC1, MEAF6, and now also with BRD8, in tumors of this type. In all rearrangements of PHF1, including the present one, a recurrent theme is that the entire coding part of PHF1 constitutes the 3' end of the fusion...
July 30, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28730668/recurrent-triploid-digynic-conceptions-and-mature-ovarian-teratomas-are-they-different-manifestations-of-the-same-genetic-defect
#5
Yassemine Khawajkie, William Buckett, Ngoc Minh Phuong Nguyen, Nawel Mechtouf, Asangla Ao, Jocelyne Arseneau, Rima Slim
Miscarriages affect 15% of clinically recognized pregnancies. Recurrent miscarriage (RM) is defined by the occurrence of at least two consecutive pregnancy losses and affects 1% to 5% of couples trying to conceive. In an attempt to categorize patients with RM and identify the mechanisms leading to their miscarriages, we first used flow cytometry to assess the ploidy of 93 products of conception (POCs) from 53 patients with RM (≥ 3 miscarriages). We identified a single patient with four triploid POCs. We then used fluorescent in situ hybridization to confirm the triploidies and fluorescent microsatellite genotyping with distal and pericentromeric markers to determine their parental origin and the mechanisms leading to their formation...
July 21, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28710806/clinical-features-and-prognostic-impact-of-prdm16-expression-in-adult-acute-myeloid-leukemia
#6
Genki Yamato, Hiroki Yamaguchi, Hiroshi Handa, Norio Shiba, Machiko Kawamura, Satoshi Wakita, Koiti Inokuchi, Yusuke Hara, Kentaro Ohki, Jun Okubo, Myoung-Ja Park, Manabu Sotomatsu, Hirokazu Arakawa, Yasuhide Hayashi
High PRDM16 (also known as MEL1) expression is a representative marker of acute myeloid leukemia (AML) with NUP98-NSD1 and is a significant predictive marker for poor prognosis in pediatric AML. However, the clinical features of adult AML with PRDM16 expression remain unclear. PRDM16 is highly homologous to MDS1/EVI1, which is an alternatively spliced transcript of MECOM (also known as EVI1). We investigated PRDM16 expression in 151 AML patients, with 47 (31%) exhibiting high PRDM16 expression (PRDM16/ABL1 ratio ≥ 0...
July 14, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28691344/combined-tumor-genomic-profiling-and-exome-sequencing-in-a-breast-cancer-family-implicates-atm-in-tumorigenesis-a-proof-of-principle-study
#7
Virginie Bubien, Françoise Bonnet, Jennifer Dupiot-Chiron, Emmanuelle Barouk-Simonet, Natalie Jones, Aurélien de Reynies, Gaëtan MacGrogan, Nicolas Sevenet, Eric Letouzé, Michel Longy
Familial breast cancers (BCs) account for 10-20% of all diagnosed BCs, yet only 20% of such tumors arise in the context of a germline mutation in known tumor suppressor genes such as BRCA1 or BRCA2. The vast genetic heterogeneity which characterizes non BRCA1 and non BRCA2 (or BRCAx) families makes grouped studies impossible to perform. Next generation sequencing techniques, however, allow individual families to be studied in order to identify rare and or private mutations but the high number of genetic variants identified need to be sorted using pathogenicity or recurrence criteria...
July 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28675510/the-co-regulatory-networks-of-tumor-suppressor-genes-oncogenes-and-mirnas-in-colorectal-cancer
#8
Martha L Slattery, Jennifer S Herrick, Lila E Mullany, Wade S Samowitz, John R Sevens, Lori Sakoda, Roger K Wolff
Tumor suppressor genes (TSGs) and oncogenes (OG) are involved in carcinogenesis. MiRNAs also contribute to cellular pathways leading to cancer. We use data from 217 colorectal cancer (CRC) cases to evaluate differences in TSGs and OGs expression between paired CRC and normal mucosa and evaluate how TSGs and OGs are associated with miRNAs. Gene expression data from RNA-Seq and miRNA expression data from Agilent Human miRNA Microarray V19.0 were used. We focus on genes most strongly associated with CRC (fold change (FC) of ≥1...
July 4, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28639428/relationship-between-pancreatic-intraepithelial-neoplasias-pancreatic-ductal-adenocarcinomas-and-single-nucleotide-polymorphisms-in-autopsied-elderly-patients
#9
Yoko Matsuda, Masashi Tanaka, Motoji Sawabe, Seijiro Mori, Masaaki Muramatsu, Makiko Naka Mieno, Toru Furukawa, Tomio Arai
A growing body of evidence shows that the presence of single nucleotide polymorphisms (SNPs) influences individual predisposition to pancreatic cancer. In the present study, we comparatively analyzed serially autopsied, elderly Japanese patients (n = 2,205) with pancreatic intraepithelial neoplasias (PanINs) and pancreatic ductal adenocarcinomas (PDACs) on the basis of their pancreatic lesions, clinical information, and SNPs. The incidence of PanIN-1, -2, -3, and PDACs in these patients was 55%, 12%, 1.4%, and 2...
June 22, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28593741/comparison-of-different-methods-for-telomere-length-measurement-in-whole-blood-and-blood-cell-subsets-recommendations-for-telomere-length-measurement-in-hematological-diseases
#10
Yvonne Lisa Behrens, Kathrin Thomay, Maike Hagedorn, Juliane Ebersold, Lea Henrich, Rainer Nustede, Brigitte Schlegelberger, Gudrun Göhring
Different methods of telomere length measurement are used to identify patients with telomeropathies. In our lab, we established four different methods for telomere length measurement, terminal restriction fragment (TRF) analysis by Southern blot analysis, quantitative PCR (qPCR), quantitative telomere/centromere fluorescence in situ hybridization (T/C-FISH) and fluorescence in situ hybridization combined with flow cytometry (FlowFISH). The methods each have distinct properties and apart from this-according to our experience and data-may have an impact on the individual result...
June 8, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28569045/a-novel-ews-creb3l3-gene-fusion-in-a-mesenteric-sclerosing-epithelioid-fibrosarcoma
#11
Barbara Dewaele, Louis Libbrecht, Gabriel Levy, Benedicte Brichard, Vanessa Vanspauwen, Raf Sciot, Maria Debiec-Rychter
Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous epithelioid cells within a collagenous matrix. It has been recently characterized by recurrent pathogenic EWS-CREB3L1/2 or FUS-CREB3L2 fusions and common MUC4 protein expression by immunohistochemistry. Typically SEF occur in middle-aged adults and rarely have been reported within the abdominal cavity. Here we report an 18-year-old man with intraabdominal tumor and multiple disseminated liver metastases, presenting pure SEF histologic and immunophenotypic features...
May 31, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28736828/genomic-and-metabolic-characterization-of-a-chromophobe-renal-cell-carcinoma-cell-line-model-uok276
#12
Youfeng Yang, Cathy D Vocke, Christopher J Ricketts, Darmood Wei, Hesed M Padilla-Nash, Martin Lang, Carole Sourbier, J Keith Killian, Shawna L Boyle, Robert Worrell, Paul S Meltzer, Thomas Ried, Maria J Merino, Adam R Metwalli, W Marston Linehan
Chromophobe renal cell carcinoma (ChRCC) represents 5% of all RCC cases and frequently demonstrates multiple chromosomal losses and an indolent pattern of local growth, but can demonstrate aggressive features and resistance to treatment in a metastatic setting. Cell line models are an important tool for the investigation of tumor biology and therapeutic drug efficacy. Currently, there are few ChRCC-derived cell lines and none is well characterized. This study characterizes a novel ChRCC-derived cell line model, UOK276...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28639284/soft-tissue-angiofibroma-clinicopathologic-immunohistochemical-and-molecular-analysis-of-14-cases
#13
Elise M Bekers, Patricia Jta Groenen, Marian Aj Verdijk, Winny L Raaijmakers-van Geloof, Paul Roepman, Robert Vink, Nathalie Db Gilhuijs, Joost M van Gorp, Judith Vmg Bovée, David H Creytens, Adrienne M Flanagan, Albert Jh Suurmeijer, Thomas Mentzel, Elsa Arbajian, Uta Flucke
Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7-67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other spindle cell lesions. The known fusion-genes (AHRR-NCOA2 and GTF2I-NCOA2) were examined using RT-PCR in order to evaluate their diagnostic value...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28639280/mutational-profiles-of-brenner-tumors-show-distinctive-features-uncoupling-urothelial-carcinomas-and-ovarian-carcinoma-with-transitional-cell-histology
#14
Nicole Pfarr, Silvia Darb-Esfahani, Jonas Leichsenring, Eliane Taube, Melanie Boxberg, Ioana Braicu, Moritz Jesinghaus, Roland Penzel, Volker Endris, Aurelia Noske, Wilko Weichert, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
Brenner tumors (BT) are rare ovarian tumors encompassing benign, borderline, and malignant variants. While the histopathology of BTs and their clinical course is well described, little is known about the underlying genetic defects. We employed targeted next generation sequencing to analyze the mutational landscape in a cohort of 23 BT cases (17 benign, 2 borderline, and 4 malignant) and 3 ovarian carcinomas with transitional cell histology (TCC). Copy number variations (CNV) were validated by fluorescence in-situ hybridization (FISH) and quantitative PCR-based copy number assays...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28597942/copy-number-alterations-determined-by-single-nucleotide-polymorphism-array-testing-in-the-clinical-laboratory-are-indicative-of-gene-fusions-in-pediatric-cancer-patients
#15
Tracy M Busse, Jacquelyn J Roth, Donna Wilmoth, Luanne Wainwright, Laura Tooke, Jaclyn A Biegel
Gene fusions resulting from structural rearrangements are an established mechanism of tumorigenesis in pediatric cancer. In this clinical cohort, 1,350 single nucleotide polymorphism (SNP)-based chromosomal microarrays from 1,211 pediatric cancer patients were evaluated for copy number alterations (CNAs) associated with gene fusions. Karyotype or fluorescence in situ hybridization studies were performed in 42% of the patients. Ten percent of the bone marrow or solid tumor specimens had SNP array-associated CNAs suggestive of a gene fusion...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28545165/highly-recurrent-h3f3a-mutations-with-additional-epigenetic-regulator-alterations-in-giant-cell-tumor-of-bone
#16
Koichi Ogura, Fumie Hosoda, Hiromi Nakamura, Natsuko Hama, Yasushi Totoki, Akihiko Yoshida, Shoko Ohashi, Hirofumi Rokutan, Erina Takai, Shinichi Yachida, Akira Kawai, Sakae Tanaka, Tatsuhiro Shibata
Recurrent H3F3A and IDH2 mutations have been reported in giant cell tumor of bone (GCTB). However, the reported incidences have varied, and other molecular genetic alterations have not been identified due to the small number of cases analyzed with comprehensive methods. Moreover, the relative sensitivities of Sanger sequencing and next-generation sequencing (NGS) for the detection of H3F3A mutations in DNA extracted from archival formalin-fixed paraffin-embedded (FFPE) samples for clinical diagnosis have not been assessed...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28560743/occurrence-of-bap1-germline-mutations-in-cutaneous-melanocytic-tumors-with-loss-of-bap1-expression-a-pilot-study
#17
Odile Cabaret, Emilie Perron, Brigitte Bressac-de Paillerets, Nadem Soufir, Arnaud de la Fouchardière
Melanocytic BAP1-associated intradermal tumors (MBAITs) can either be sporadic or associated with a cancer-predisposition syndrome. In this study we explored the clinical status of 136 patients in which at least one MBAIT was found. 49/136 (36%) of them gave their signed consent for an oncogenetic BAP1 blood test. 28/136 patients (20%) diagnosed with an MBAIT had other MBAITs and/or a personal or familial history of BAP1-related cancers that could clinically designate them as potential carriers of a BAP1 germline mutation...
September 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28510278/tfg-met-fusion-in-an-infantile-spindle-cell-sarcoma-with-neural-features
#18
Uta Flucke, Max M van Noesel, Marc Wijnen, Lei Zhang, Chun-Liang Chen, Yun-Shao Sung, Cristina R Antonescu
An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression...
September 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28466543/mutation-patterns-in-genes-encoding-interferon-signaling-and-antigen-presentation-a-pan-cancer-survey-with-implications-for-the-use-of-immune-checkpoint-inhibitors
#19
Jan Budczies, Michael Bockmayr, Frederick Klauschen, Volker Endris, Stefan Fröhling, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
Blockade of immune checkpoints has become a powerful tool in cancer medicine, which is effective across various solid cancer types and hematologic malignancies. While immunohistochemical detection of PD-L1 expression in tumor cells, immune cells, or both has been introduced as predictive biomarker in several clinical trials, shortcomings and limitations of this approach were quickly recognized. As a single biomarker is unlikely to adequately reflect the complex interplay between immune cells and cancer, various genetic determinants of therapy success, including microsatellite instability, mutational burden, and PD-L1 amplification, are being investigated...
August 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28383167/hspa8-as-a-novel-fusion-partner-of-nr4a3-in-extraskeletal-myxoid-chondrosarcoma
#20
Milena Urbini, Annalisa Astolfi, Maria Abbondanza Pantaleo, Salvatore Serravalle, Angelo Paolo Dei Tos, Piero Picci, Valentina Indio, Marta Sbaraglia, Stefania Benini, Alberto Righi, Marco Gambarotti, Alessandro Gronchi, Chiara Colombo, Gian Paolo Dagrada, Silvana Pilotti, Roberta Maestro, Maurizio Polano, Maristella Saponara, Giuseppe Tarantino, Andrea Pession, Guido Biasco, Paolo Giovanni Casali, Silvia Stacchiotti
Extraskeletal myxoid chondrosarcoma (EMC) is a very rare sarcoma most often arising in the soft tissue. Rare EMC of the bone have been reported. EMC exhibits distinctive clinico-pathological and genetic features; however, despite the name, it lacks any feature of cartilaginous differentiation. EMC is characterized by the rearrangement of the NR4A3, which, in most cases (about 62-75%), is fused with EWSR1 and less frequently with other partners, including TAF15 (27%), TCF12 (4%), TFG, and FUS. We herein report the identification by whole-transcriptome sequencing of HSPA8 as a novel fusion partner of NR4A3 in a case of EMC...
July 2017: Genes, Chromosomes & Cancer
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