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Keywords: Mutation
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Journal Articles
Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues
Available to PurchaseAlbina A. Avanesyan, Anna P. Sokolenko, Alexandr O. Ivantsov, Maxim A. Kleshchev, Mikhail A. Maydin, Ilya V. Bizin, Grigory A. Raskin, Ksenia V. Shelekhova, Tatiana V. Gorodnova, Alexandr A. Bessonov, Elena I. Anisimova, Olga A. Volynshchikova, Alexandr A. Romanko, Valeria I. Ni, Robert V. Broyde, Oleg B. Tkachenko, Aldon J. Whitehead, Alexandr M. Scherbakov, Evgeny N. Imyanitov
Journal:
Pathobiology
Pathobiology (2020) 87 (6): 367–374.
Published Online: 06 November 2020
...; Oleg B. Tkachenko; Aldon J. Whitehead; Alexandr M. Scherbakov; Evgeny N. Imyanitov Introduction: There is some evidence suggesting a link between BRCA1/2 germline mutations and increased risk of gastric cancer. Methods: Endoscopic screening for stomach malignancies was performed in 120 BRCA1 mutation...
Journal Articles
Mutational Profiling of Driver Tumor Suppressor and Oncogenic Genes in Brazilian Malignant Pleural Mesotheliomas
Available to PurchaseNathália C. Campanella, Eduardo Caetano Silva, Gustavo Dix, Fabiana de Lima Vazquez, Flávia Escremim de Paula, Gustavo N. Berardinelli, Marcelo Balancin, Roger Chammas, Rossana V. Mendoza Lopez, Henrique César S. Silveira, Vera Luiza Capelozzi, Rui Manuel Reis
Journal:
Pathobiology
Pathobiology (2020) 87 (3): 208–216.
Published Online: 09 June 2020
... upon pathological investigation supported by clinical and radiological evidence and more recently ancillary molecular testing. Treatment options are currently limited, with no known targeted therapies available. Objectives: To elucidate the mutation profile of driver tumor suppressor and oncogenic...
Journal Articles
Eline van Winkel, Wendy W.J. de Leng, Petronella O. Witteveen, Trudy Jonges, Stefan M. Willems, Marlies H.G. Langenberg
Journal:
Pathobiology
Pathobiology (2018) 84 (6): 339–350.
Published Online: 25 September 2017
...Eline van Winkel; Wendy W.J. de Leng; Petronella O. Witteveen; Trudy Jonges; Stefan M. Willems; Marlies H.G. Langenberg Objective: To investigate whether next-generation sequencing (NGS) in ovarian and endometrial tumours can discover mutations with a relevant prognostic or predictive value...
Journal Articles
The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients
Available to PurchaseSubject Area:
Topic Article Package: Melanoma
, Further Areas
, Oncology
, Pathology and Cell Biology
Christine G. Stoehr, Bernhard Walter, Stefan Denzinger, Paola Ghiorzo, Richard A. Sturm, Raoul Hinze, Holger Moch, Kerstin Junker, Arndt Hartmann, Robert Stoehr
Journal:
Pathobiology
Pathobiology (2016) 83 (4): 165–169.
Published Online: 22 March 2016
...-inducible factor (HIF1-α), which is involved in renal carcinogenesis. The MITF p.E318K mutation leads to deficient SUMOylation of MITF, resulting in enhanced activation of its target genes. A case-control study on melanoma patients who coincidentally were affected by renal cell carcinoma (RCC) has revealed...
Journal Articles
Frequency of TERT Promoter Mutations in Prostate Cancer
Available to PurchaseRobert Stoehr, Helge Taubert, Ulrike Zinnall, Johannes Giedl, Nadine T. Gaisa, Maximilian Burger, Petra Ruemmele, Carolyn D. Hurst, Margaret A. Knowles, Bernd Wullich, Arndt Hartmann
Journal:
Pathobiology
Pathobiology (2015) 82 (2): 53–57.
Published Online: 21 May 2015
...Robert Stoehr; Helge Taubert; Ulrike Zinnall; Johannes Giedl; Nadine T. Gaisa; Maximilian Burger; Petra Ruemmele; Carolyn D. Hurst; Margaret A. Knowles; Bernd Wullich; Arndt Hartmann Objective: Recently, recurrent mutations within the core promoter of the human telomerase reverse transcriptase...
Journal Articles
New Mutations of the ID1 Gene in Acute Myeloid Leukemia Patients
Available to PurchaseChintana Tochareontanaphol, Thivaratana Sinthuwiwat, Borisuit Buathong, Thunyatip Thita, Somying Promso, Saowakon Paca-uccaralertkun
Journal:
Pathobiology
Pathobiology (2015) 82 (1): 43–47.
Published Online: 28 February 2015
... is induced by abnormal tyrosine kinases, such as FLT3 and BCR-ABL. High level expression of ID1 is associated with poor prognosis in young patients. We aimed to explore the ID1 mutation and its prognosis in AML patients. Methods: Two hundred and sixty-three AML patients were included. Cytogenetic results...
Journal Articles
Molecular Pathology of Gastric Carcinoma
Available to Purchase
Journal:
Pathobiology
Pathobiology (2011) 78 (6): 302–310.
Published Online: 18 November 2011
...Bo-Gun Jang; Woo Ho Kim Gastric carcinoma (GC) is a biologically heterogeneous disease involving numerous genetic and epigenetic alterations. A very small proportion of GCs can be caused by a specific germ-line mutation of the E-cadherin gene (CDH1) . Sporadic GC is developed through multistep...
Journal Articles
Mutations of Lysophosphatidic Acid Receptor Genes in Human Osteosarcoma Cells
Available to PurchaseKyoko Okabe, Mai Hayashi, Minako Fujii, Kanya Honoki, Toshio Mori, Nobuyuki Fukushima, Toshifumi Tsujiuchi
Journal:
Pathobiology
Pathobiology (2010) 77 (5): 278–282.
Published Online: 29 November 2010
... been reported in some tumor cells. In this study, to assess an involvement of LPA receptor genes in the development of human cancer cells, we looked for the presence of mutations in LPA receptor 1–6 (LPA1–6) genes in MG63 osteosarcoma, HT1080 fibrosarcoma, A549 lung adenocarcinoma, MCF-7 breast...
Journal Articles
Increased Expression but Not Genetic Alteration of BRG1 , a Component of the SWI/SNF Complex, Is Associated with the Advanced Stage of Human Gastric Carcinomas
Available to PurchaseKazuhiro Sentani, Naohide Oue, Humihiro Kondo, Kazuya Kuraoka, Junichi Motoshita, Reiko Ito, Hiroshi Yokozaki, Wataru Yasui
Journal:
Pathobiology
Pathobiology (2002) 69 (6): 315–320.
Published Online: 20 September 2002
... deletions or mutations, half of which are concentrated in exons 4 and 10, resulting in aberrant BRG1 expression. We examined the expression of BRG1 in 38 gastric carcinomas and corresponding nonneoplastic mucosa by using the quantitative real-time RT-PCR method. Twenty-three carcinomas (61%) showed...
Journal Articles
Investigations into the Molecular Effects of Single Nucleotide Polymorphism
Available to Purchase
Journal:
Pathobiology
Pathobiology (2001) 68 (6): 283–290.
Published Online: 02 August 2001
...Horst D. Lohrer; Uwe Tangen Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences. Methods...