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https://www.readbyqxmd.com/read/29451486/-uveal-melanoma-a-model-disease-for-splicing-alterations-and-oncogenesis
#1
Samar Alsafadi, Lenha Mobuchon, Manuel Rodrigues, Marc-Henri Stern
Uveal melanoma is a rare cancer in adults, whose highly stereotyped oncogenic events have been decrypted over the last decade. Its epidemiological, genetic and transcriptional features make it a remarkable model of oncogenesis. Malignant transformation involves almost mutually exclusive alteration of fundamental biologic pathways, including chromatin regulation with inactivation of BAP1, splicing with mutations of SF3B1 or translation with mutations of EIF1AX. Uveal melanoma analyses unraveled the splicing defect due to SF3B1 mutations...
February 2018: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29426696/prognostic-impact-of-concomitant-loss-of-pbrm1-and-bap1-protein-expression-in-early-stages-of-clear-cell-renal-cell-carcinoma
#2
Walter Henriques da Costa, Isabela Werneck da Cunha, Aline Fusco Fares, Stephania M Bezerra, Luciana Shultz, Diego Abreu Clavijo, Deusdedit Vieira da Silva, George Jabboure Netto, Gustavo Cardoso Guimaraes, Stenio de Cassio Zequi
PURPOSE: To evaluate the prognostic impact of immunohistochemical expression of BAP1 and PBRM1 in patients with early stage (pT1-pT2N0M0) clear cell renal cell carcinoma (ccRCC). PATIENTS AND METHODS: A total of 441 consecutive patients treated surgically for stages I and II (TNM-AJCC 2010) ccRCC between 1990 and 2016 were selected. All cases were reviewed for uniform reclassification and the most representative tumor areas were selected for the construction of a tissue microarray...
February 6, 2018: Urologic Oncology
https://www.readbyqxmd.com/read/29416875/patterns-of-bap1-protein-expression-provide-insights-into-prognostic-significance-and-the-biology-of-uveal-melanoma
#3
Neil Farquhar, Sophie Thornton, Sarah E Coupland, Judy M Coulson, Joseph J Sacco, Yamini Krishna, Heinrich Heimann, Azzam Taktak, Colleen M Cebulla, Mohamed H Abdel-Rahman, Helen Kalirai
Uveal melanoma (UM) is a rare aggressive intraocular tumour with a propensity for liver metastases, occurring in ∼50% of patients. The tumour suppressor BAP1 is considered to be key in UM progression. Herein, we present the largest study to date investigating cellular expression patterns of BAP1 protein in 165 UMs, correlating these patterns to prognosis. Full clinical, histological, genetic, and follow-up data were available for all patients. BAP1 gene sequencing was performed on a subset of 26 cases. An independent cohort of 14 UMs was examined for comparison...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29413759/mutational-profiling-of-malignant-mesothelioma-revealed-potential-therapeutic-targets-in-egfr-and-nras
#4
Jeong Eun Kim, Deokhoon Kim, Yong Sang Hong, Kyu-Pyo Kim, Young Kwang Yoon, Dae Ho Lee, Sang-We Kim, Sung-Min Chun, Se Jin Jang, Tae Won Kim
Pemetrexed and platinum (PP) combination chemotherapy is the current standard first-line therapy for treatment of malignant mesothelioma (MM). However, a useful predictive biomarker for PP therapy is yet to be found. Here, we performed targeted exome sequencing to profile somatic mutations and copy number variations in 12 MM patients treated with PP therapy. We identified 187 somatic mutations in 12 patients (65 synonymous, 102 missense, 2 nonsense, 5 splice site, and 13 small coding insertions/deletions). We identified somatic mutations in 23 genes including BAP1, TP53, NRAS, and EGFR...
January 29, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29413689/germline-bap1-positive-patients-the-dilemmas-of-cancer-surveillance-and-a-proposed-interdisciplinary-consensus-monitoring-strategy
#5
Phoebe Star, Annabel Goodwin, Rony Kapoor, R Max Conway, Georgina V Long, Richard A Scolyer, Pascale Guitera
The germline BAP1 (BRCA1-associated protein-1) mutation and associated cancer pre-disposition syndrome was first described in 2011. Since then, physicians have considered this diagnosis for patients with a characteristic personal or family history of BAP1-associated tumours (mainly uveal and cutaneous melanoma, pleural/peritoneal mesothelioma, renal cell carcinoma and BAP1-deficient melanocytic lesions). However, a positive germline BAP1 mutation detection creates significant uncertainty in terms of appropriate cancer surveillance...
February 2, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29371938/large-scale-copy-number-analysis-reveals-variations-in-genes-not-previously-associated-with-malignant-pleural-mesothelioma
#6
Marieke Hylebos, Guy Van Camp, Geert Vandeweyer, Erik Fransen, Matthias Beyens, Robin Cornelissen, Arvid Suls, Patrick Pauwels, Jan P van Meerbeeck, Ken Op de Beeck
Malignant pleural mesothelioma (MPM) is an aggressive tumor that is often causally associated with asbestos exposure. Comparative genomic hybridization techniques and arrays demonstrated a complex set of copy number variations (CNVs) in the MPM-genome. These techniques however have a limited resolution, throughput and flexibility compared to next-generation sequencing platforms. In this study, the presence of CNVs in the MPM-genome was investigated using an MPM-cohort (N = 85) for which genomic microarray data are available through 'The Cancer Genome Atlas' (TCGA)...
December 26, 2017: Oncotarget
https://www.readbyqxmd.com/read/29371009/genetic-background-of-iris-melanomas-and-iris-melanocytic-tumors-of-uncertain-malignant-potential
#7
Natasha M van Poppelen, Jolanda Vaarwater, Hardeep S Mudhar, Karen Sisley, Ian G Rennie, Paul Rundle, Tom Brands, Quincy C C van den Bosch, Hanneke W Mensink, Annelies de Klein, Emine Kiliç, Robert M Verdijk
PURPOSE: Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Iris melanoma comprises 4% to 10% of all UMs and has a lower mortality rate. The genetic changes in iris melanoma are not as well characterized as ciliary body or choroidal melanoma. The aim of this study was to gain more insight into the genetic background of iris melanoma and iris nevi. DESIGN: Multicenter, retrospective case series. PARTICIPANTS: Patients diagnosed with iris melanoma or iris nevi who underwent surgical intervention as primary or secondary treatment...
January 19, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29351612/a-mutational-signature-associated-with-alcohol-consumption-and-prognostically-significantly-mutated-driver-genes-in-esophageal-squamous-cell-carcinoma
#8
X C Li, M Y Wang, M Yang, H J Dai, B F Zhang, W Wang, X L Chu, X Wang, H Zheng, R F Niu, W Zhang, K X Chen
Background: Esophageal squamous cell carcinoma (ESCC) is often diagnosed at an advanced and incurable stage. Information on driver genes and prognosticators in ESCC remains incomplete. The objective was to elucidate significantly mutated genes (SMGs), mutational signatures, and prognosticators in ESCC. Patients and Methods: Three MutSig algorithms (i.e. MutSigCV, MutSigCL and MutSigFN) and "20/20+" ratio-metric were employed to identify SMGs. Nonnegative matrix factorization was used to decipher mutational signatures...
January 16, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29350783/malignant-mesothelioma-in-situ
#9
Andrew Churg, Harry Hwang, Lawrence Tan, Gefei Qing, Altaf Taher, Amy Tong, AnaMaria Bilawich, Sanja Dacic
The existence of malignant mesothelioma in situ (MIS) is often postulated, but there are no accepted morphologic criteria for making such a diagnosis. Here we report two cases that appear to be true MIS on the basis of in situ genomic analysis. In one case the patient had repeated unexplained pleural unilateral effusions. Two thoracoscopies 9 months apart revealed only visually normal pleura. Biopsies from both thoracoscopies showed only a single layer of mildly reactive mesothelial cells. However, these cells had lost BAP1 and showed loss of CDKN2A ("p16″) by FISH...
January 19, 2018: Histopathology
https://www.readbyqxmd.com/read/29345617/loss-of-functional-bap1-augments-sensitivity-to-trail-in-cancer-cells
#10
Krishna Kalyan Kolluri, Constantine Alifrangis, Neelam Kumar, Yuki Ishii, Stacey Price, Magali Michaut, Steven Williams, Syd Barthorpe, Howard Lightfoot, Sara Busacca, Annabel Sharkey, Zhenqiang Yuan, Elizabeth K Sage, Sabarinath Vallath, John Le Quesne, David A Tice, Doraid Alrifai, Sylvia von Karstedt, Antonella Montinaro, Naomi Guppy, David A Waller, Apostolos Nakas, Robert Good, Alan Holmes, Henning Walczak, Dean A Fennell, Mathew Garnett, Francesco Iorio, Lodewyk Wessels, Ultan McDermott, Samuel M Janes
Malignant mesothelioma (MM) is poorly responsive to systemic cytotoxic chemotherapy and invariably fatal. Here we describe a screen of 94 drugs in 15 exome-sequenced MM lines and the discovery of a subset defined by loss of function of the nuclear deubiquitinase BRCA associated protein-1 (BAP1) that demonstrate heightened sensitivity to TRAIL (tumour necrosis factor-related apoptosis-inducing ligand). This association is observed across human early passage MM cultures, mouse xenografts and human tumour explants...
January 18, 2018: ELife
https://www.readbyqxmd.com/read/29342862/heterogeneous-contributing-factors-in-mpm-disease-development-and-progression-biological-advances-and-clinical-implications
#11
REVIEW
Bhairavi Tolani, Luis A Acevedo, Ngoc T Hoang, Biao He
Malignant pleural mesothelioma (MPM) tumors are remarkably aggressive and most patients only survive for 5-12 months; irrespective of stage; after primary symptoms appear. Compounding matters is that MPM remains unresponsive to conventional standards of care; including radiation and chemotherapy. Currently; instead of relying on molecular signatures and histological typing; MPM treatment options are guided by clinical stage and patient characteristics because the mechanism of carcinogenesis has not been fully elucidated; although about 80% of cases can be linked to asbestos exposure...
January 13, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29327717/combined-mutation-and-copy-number-variation-detection-by-targeted-next-generation-sequencing-in-uveal-melanoma
#12
Kyra N Smit, Natasha M van Poppelen, Jolanda Vaarwater, Robert Verdijk, Ronald van Marion, Helen Kalirai, Sarah E Coupland, Sophie Thornton, Neil Farquhar, Hendrikus-Jan Dubbink, Dion Paridaens, Annelies de Klein, Emine Kiliç
Uveal melanoma is a highly aggressive cancer of the eye, in which nearly 50% of the patients die from metastasis. It is the most common type of primary eye cancer in adults. Chromosome and mutation status have been shown to correlate with the disease-free survival. Loss of chromosome 3 and inactivating mutations in BAP1, which is located on chromosome 3, are strongly associated with 'high-risk' tumors that metastasize early. Other genes often involved in uveal melanoma are SF3B1 and EIF1AX, which are found to be mutated in intermediate- and low-risk tumors, respectively...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29317634/punctuated-evolution-of-canonical-genomic-aberrations-in-uveal-melanoma
#13
Matthew G Field, Michael A Durante, Hima Anbunathan, Louis Z Cai, Christina L Decatur, Anne M Bowcock, Stefan Kurtenbach, J William Harbour
Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. However, it remains unclear when the aberrations associated with metastasis emerge during tumor evolution. Uveal melanoma (UM) is the most common primary eye cancer and frequently leads to metastatic death, which is strongly linked to BAP1 mutations. Accordingly, UM is ideally suited for studying the clonal evolution of metastatic competence. Here we analyze sequencing data from 151 primary UM samples using a customized bioinformatic pipeline, to improve detection of BAP1 mutations and infer the clonal relationships among genomic aberrations...
January 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29298805/correction-germline-bap1-mutational-landscape-of-asbestos-exposed-malignant-mesothelioma-patients-with-family-history-of-cancer
#14
(no author information available yet)
No abstract text is available yet for this article.
January 1, 2018: Cancer Research
https://www.readbyqxmd.com/read/29298661/de-novo-transcriptome-sequencing-and-analysis-of-male-and-female-swimming-crab-portunus-trituberculatus-reproductive-systems-during-mating-embrace-stage-ii
#15
Zhengfei Wang, Linxia Sun, Weibing Guan, Chunlin Zhou, Boping Tang, Yongxu Cheng, Jintian Huang, Fujun Xuan
BACKGROUND: The swimming crab Portunus trituberculatus is one of the most commonly farmed crustaceans in China. As one of the most widely known and high-value edible crabs, it crab supports large crab fishery and aquaculture in China. Only large and sexually mature crabs can provide the greatest economic benefits, suggesting the considerable effect of reproductive system development on fishery. Studies are rarely conducted on the molecular regulatory mechanism underlying the development of the reproductive system during the mating embrace stage in this species...
January 3, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29287955/remodeling-of-ca2-signaling-in-cancer-regulation-of-inositol-1-4-5-trisphosphate-receptors-through-oncogenes-and-tumor-suppressors
#16
REVIEW
Hideaki Ando, Katsuhiro Kawaai, Benjamin Bonneau, Katsuhiko Mikoshiba
The calcium ion (Ca2+) is a ubiquitous intracellular signaling molecule that regulates diverse physiological and pathological processes, including cancer. Increasing evidence indicates that oncogenes and tumor suppressors regulate the Ca2+ transport systems. Inositol 1,4,5-trisphosphate (IP3) receptors (IP3Rs) are IP3-activated Ca2+ release channels located on the endoplasmic reticulum (ER). They play pivotal roles in the regulation of cell death and survival by controlling Ca2+ transfer from the ER to mitochondria through mitochondria-associated ER membranes (MAMs)...
December 20, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/29284740/familial-and-somatic-bap1-mutations-inactivate-asxl1-2-mediated-allosteric-regulation-of-bap1-deubiquitinase-by-targeting-multiple-independent-domains
#17
Hongzhuang Peng, Jeremy Prokop, Jayashree Karar, Kyewon Park, Li Cao, J William Harbour, Anne M Bowcock, S Bruce Malkowicz, Mitchell Cheung, Joseph R Testa, Frank J Rauscher
Deleterious mutations of the ubiquitin carboxy-terminal hydrolase BAP1 found in cancers are predicted to encode inactive truncated proteins, suggesting that loss of enzyme function is a primary tumorigenic mechanism. However, many tumors exhibit missense mutations or in-frame deletions or insertions, often outside the functionally critical UCH domain in this tumor suppressor protein. Thus, precisely how these mutations inactivate BAP1 is unknown. Here, we show how these mutations affect BAP1 interactions with the Polycomb group-like protein ASXL2, using combinations of computational modeling technology, molecular biology, and in vitro reconstitution biochemistry...
December 28, 2017: Cancer Research
https://www.readbyqxmd.com/read/29281872/prognoses-and-clinical-outcomes-of-primary-and-recurrent-uveal-melanoma
#18
Jee Hung Kim, Su-Jin Shin, Soo Jin Heo, Eun-Ah Choe, Chang-Gon Kim, Minkyu Jung, Ki Chang Keum, Jin Sook Yoon, Sung Chul Lee, Sang Joon Shin
Purpose: Uveal melanoma has a very poor prognosis despite successful local primary tumor treatment. In this study, we investigated prognostic factors that more accurately reflected the likelihood of recurrence and survival and delineated a prognostic model that could effectively identify different risk groups based on initial clinical parameters. Materials and Methods: Prognostic factors associated with distant recurrence, recurrence-free survival (RFS), progression-free survival (PFS), and OS from distant recurrence to death (OS2) were analyzed in 226 patients with stage I-III uveal melanoma who underwent primary local therapy...
December 28, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29227332/recent-advances-in-the-diagnosis-of-malignant-mesothelioma-focus-on-approach-in-challenging-cases-and-in-limited-tissue-and-cytologic-samples
#19
Sara Monaco, Mitra Mehrad, Sanja Dacic
Mesothelial proliferations can be diagnostically challenging in small specimens, such as body fluid cytology and small tissue biopsies. A great morphologic challenge for pathologists is the separation of benign reactive mesothelial proliferations from malignant mesotheliomas. Reactive mesothelial proliferations may have histologic features that resemble malignancy including increased cellularity, cytologic atypia, and mitoses. Recent advances in mesothelioma genetics resulted in identification of BAP1 mutations and p16 deletions as features of malignant mesotheliomas...
January 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29219794/-a-brown-red-papule
#20
N A Ipenburg, W J Mooi, R van Doorn
A 44-year-old woman was referred with a brown-red papule on the back. Histopathologic examination showed a melanocytic BAP1-associated intradermal tumour. A germline mutation in the BAP1 gene confirmed a diagnosis of BAP1 tumour predisposition syndrome. This syndrome is associated with various tumour types. Early diagnosis is essential for counselling and screening.
2017: Nederlands Tijdschrift Voor Geneeskunde
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