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https://www.readbyqxmd.com/read/28098597/sporadic-trichoblastomas-and-those-occurring-in-the-setting-of-multiple-familial-trichoepithelioma-brooke-spiegler-syndrome-show-no-bap1-loss
#1
Liubov Kyrpychova, Denisa Kacerovska, Michal Michal, Dmitry V Kazakov
No abstract text is available yet for this article.
January 12, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28062663/a-population-based-analysis-of-germline-bap1-mutations-in-melanoma
#2
Sally J O'Shea, Carla Daniela Robles-Espinoza, Lauren McLellan, Jeanine Harrigan, Xavier Jacq, James Hewinson, Vivek Iyer, Will Merchant, Faye Elliott, Mark Harland, D Timothy Bishop, Julia Newton-Bishop, David J Adams
Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma. Germline variants have also been found in familial cutaneous melanoma pedigrees, but their contribution to sporadic melanoma has not been fully assessed. We sequenced BAP1 in 1,977 melanoma cases and 754 controls and used deubiquitinase assays, a pedigree analysis, and a histopathological review to assess the consequences of the mutations found...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28054438/epigenetic-regulates-transcription-and-pathogenesis-in-the-parasite-trichomonas-vaginalis
#3
Tomas Pachano, Yesica R Nievas, Ayelen Lizarraga, Patricia J Johnson, Pablo H Strobl-Mazzulla, Natalia de Miguel
Trichomonas vaginalis is a common sexually transmitted parasite that colonizes the human urogenital tract. Infections range from asymptomatic to highly inflammatory, depending on the host and the parasite strain. Different T. vaginalis strains vary greatly in their adherence and cytolysis capacities. These phenotypic differences might be attributed to differentially expressed genes as a consequence of extra-genetic variation, such as epigenetic modifications. In this study we explored the role of histone acetylation in regulating gene transcription and pathogenesis in T...
January 5, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28048816/mo-de-207b-05-predicting-gene-mutations-in-renal-cell-carcinoma-based-on-ct-imaging-features-validation-using-tcga-tcia-datasets
#4
X Chen, Z Zhou, K Thomas, J Wang
PURPOSE: The goal of this work is to investigate the use of contrast enhanced computed tomographic (CT) features for the prediction of mutations of BAP1, PBRM1, and VHL genes in renal cell carcinoma (RCC). METHODS: For this study, we used two patient databases with renal cell carcinoma (RCC). The first one consisted of 33 patients from our institution (UT Southwestern Medical Center, UTSW). The second one consisted of 24 patients from the Cancer Imaging Archive (TCIA), where each patient is connected by a unique identi?er to the tissue samples from the Cancer Genome Atlas (TCGA)...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28038708/usefulness-of-p16-cdkn2a-fluorescence-in-situ-hybridization-and-bap1-immunohistochemistry-for-the-diagnosis-of-biphasic-mesothelioma
#5
Di Wu, Kenzo Hiroshima, Toshikazu Yusa, Daisuke Ozaki, Eitetsu Koh, Yasuo Sekine, Shinji Matsumoto, Kazuki Nabeshima, Ayuko Sato, Tohru Tsujimura, Hisami Yamakawa, Yuji Tada, Hideaki Shimada, Masatoshi Tagawa
Malignant mesothelioma is a highly aggressive neoplasm, and the histologic subtype is one of the most reliable prognostic factors. Some biphasic mesotheliomas are difficult to distinguish from epithelioid mesotheliomas with atypical fibrous stroma. The aim of this study was to analyze p16/CDKN2A deletions in mesotheliomas by fluorescence in situ hybridization (FISH) and BAP1 immunohistochemistry to evaluate their potential role in the diagnosis of biphasic mesothelioma. We collected 38 cases of pleural mesotheliomas...
February 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28034829/bap1-is-altered-by-copy-number-loss-mutation-and-or-loss-of-protein-expression-in-more-than-70-malignant-peritoneal-mesotheliomas
#6
Noémie Leblay, Frédéric Leprêtre, Nolwenn Le Stang, Amandine Gautier-Stein, Laurent Villeneuve, Sylvie Isaac, Denis Maillet, Françoise Galateau-Sallé, Céline Villenet, Shéhérazade Sebda, Alexandra Goracci, Graham Byrnes, James D McKay, Martin Figeac, Olivier Glehen, François-Noël Gilly, Matthieu Foll, Lynnette Fernandez-Cuesta, Marie Brevet
INTRODUCTION: Malignant mesothelioma is a deadly disease strongly associated with asbestos exposure. Peritoneal mesotheliomas account for 10% of all the cases. BAP1 is a deubiquitinating hydrolase that plays a key role in various cellular processes. Germ-line and somatic inactivation of BAP1 is frequent in pleural mesothelioma, however, little is known about its status in peritoneal mesothelioma. METHODS: Taking advantage of the extensive French national networks MESOPATH and RENAPE, we collected biological material and clinical and epidemiological data for 46 peritoneal mesothelioma patients...
December 27, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28018010/uveal-melanoma-cell-lines-where-do-they-come-from-an-american-ophthalmological-society-thesis
#7
Martine J Jager, J Antonio Bermudez Magner, Bruce R Ksander, Sander R Dubovy
PURPOSE: To determine whether some of the most often used uveal melanoma cell lines resemble their original tumor. METHODS: Analysis of the literature, patient charts, histopathology, mutations, chromosome status, HLA type, and expression of melanocyte markers on cell lines and their primary tumors. We examined five cell lines and the primary tumors from which they were derived. RESULTS: Four of the five examined primary tumors were unusual: one occupied the orbit, two were recurrences after prior irradiation, and one developed in an eye with a nevus of Ota...
August 2016: Transactions of the American Ophthalmological Society
https://www.readbyqxmd.com/read/28007630/improving-the-accuracy-of-mesothelioma-diagnosis-in-china
#8
Zhenying Guo, Michele Carbone, Xing Zhang, Dan Su, Wenyong Sun, Jianlin Lou, Zhibin Gao, Dichu Shao, Junqiang Chen, Gu Zhang, Jinlin Hu, Kaiyan Chen, Fang Wang, Harvey I Pass, Herbert Yu, Andrea Napolitano, Haining Yang, Weiming Mao
INTRODUCTION: In the Western world, malignant mesothelioma (MM) is most prevalent in the pleura of older males who have been professionally exposed to asbestos. Information about MM from rapidly industrializing countries such as China is minimal. There is concern that a proportion of MM diagnoses in China may be incorrect because most Chinese physicians do not have experience diagnosing this rare cancer. We recently reported an unusually high incidence of peritoneal MM among eastern Chinese female patients...
December 19, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27992592/effects-of-pi-and-piii-snake-venom-haemorrhagic-metalloproteinases-on-the-microvasculature-a-confocal-microscopy-study-on-the-mouse-cremaster-muscle
#9
Cristina Herrera, Mathieu-Benoit Voisin, Teresa Escalante, Alexandra Rucavado, Sussan Nourshargh, José María Gutiérrez
The precise mechanisms by which Snake Venom Metalloproteinases (SVMPs) disrupt the microvasculature and cause haemorrhage have not been completely elucidated, and novel in vivo models are needed. In the present study, we compared the effects induced by BaP1, a PI SVMP isolated from Bothrops asper venom, and CsH1, a PIII SVMP from Crotalus simus venom, on cremaster muscle microvasculature by topical application of the toxins on isolated tissue (i.e., ex vivo model), and by intra-scrotal administration of the toxins (i...
2016: PloS One
https://www.readbyqxmd.com/read/27990554/gna11-mutated-and-bap1-negative-melanomas-ex-blue-naevi-a-particularly-aggressive-entity
#10
Arnaud Uguen, Briac Guibourg, Sebastian Costa, Pascale Marcorelles
is missing (Short Communication).
December 8, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27984124/loss-of-brca1-associated-protein-1-bap1-expression-is-rare-in-non-small-cell-lung-cancer
#11
Daniel Owen, Brandon S Sheffield, Diana Ionescu, Andrew Churg
BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene involved in regulation of the cell cycle, cellular differentiation, repair of DNA damage and apoptosis. In the distinction of malignant mesothelioma from benign mesothelial proliferations, immunohistochemical loss of BAP1, the protein expressed by the BAP1 gene, has proven highly specific for malignant mesothelioma. However, few studies have investigated the rate of BAP1 loss in tumors that commonly metastasize to the pleura. Our objective is to determine the rate of BAP1 loss in non-small cell lung cancer (NSCLC)...
October 28, 2016: Human Pathology
https://www.readbyqxmd.com/read/27974237/copy-number-variation-analysis-and-methylome-profiling-of-a-gnaq-mutant-primary-meningeal-melanocytic-tumor-and-its-liver-metastasis
#12
Heidi V N Küsters-Vandevelde, Vibeke Kruse, Tom Van Maerken, Tom Boterberg, Rolph Pfundt, David Creytens, Caroline Van den Broecke, Trudi C Machielsen, Christian Koelsche, Andreas von Deimling, Benno Küsters, Patricia J T A Groenen, Pieter Wesseling, Willeke A M Blokx
Primary meningeal melanocytic tumors have genetic similarities with uveal melanomas, including GNAQ or GNA11 mutations. While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors. We describe a 43-year-old female with a GNAQ-mutated, BAP1-wt melanocytic tumor originating in the parietal brain region and liver metastases 4years after initial diagnosis. After repeated surgery and chemotherapy she was treated with the immunomodulatory agent ipilimumab...
December 11, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27911584/clinicopathological-characteristics-and-prognosis-for-survival-after-enucleation-of-uveal-melanoma-in-chinese-patients-long-term-follow-up
#13
Han Yue, Jiang Qian, Yifei Yuan, Rui Zhang, Yingwen Bi, Fengxi Meng, Yi Xuan
PURPOSE: To summarize the clinicopathological characteristics and prognosis of uveal melanoma (UM) after enucleation in Chinese patients. METHODS: Between 2003 and 2012, a series of 171 patients with UM received enucleation at the Eye & ENT Hospital of Fudan University in Shanghai. Patient clinical information was collected. Pathological examination and BAP1 staining of the enucleated eyes were conducted. Univariate and multivariate Cox proportional hazard regressions were conducted to determine the risk factors, and the survival rates were calculated and compared...
December 2, 2016: Current Eye Research
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#14
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27890923/the-epigenetic-landscape-of-renal-cancer
#15
REVIEW
Mark R Morris, Farida Latif
The majority of kidney cancers are associated with mutations in the von Hippel-Lindau gene and a small proportion are associated with infrequent mutations in other well characterized tumour-suppressor genes. In the past 15 years, efforts to uncover other key genes involved in renal cancer have identified many genes that are dysregulated or silenced via epigenetic mechanisms, mainly through methylation of promoter CpG islands or dysregulation of specific microRNAs. In addition, the advent of next-generation sequencing has led to the identification of several novel genes that are mutated in renal cancer, such as PBRM1, BAP1 and SETD2, which are all involved in histone modification and nucleosome and chromatin remodelling...
January 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27864835/intrahepatic-cholangiocarcinoma-frequently-shows-loss-of-bap1-and-pbrm1-expression-and-demonstrates-specific-clinicopathological-and-genetic-characteristics-with-bap1-loss
#16
Kento Misumi, Akimasa Hayashi, Junji Shibahara, Junichi Arita, Yoshihiro Sakamoto, Kiyoshi Hasegawa, Norihiro Kokudo, Masashi Fukayama
AIMS: BAP1 and PBRM1 expression loss has been observed in multiple cancers, including intrahepatic cholangiocarcinoma (ICC). We investigated BAP1 and PBRM1 expression in ICC using immunohistochemistry, and analysed its association with clinicopathological and genetic features, including two histological subtypes. METHODS AND RESULTS: Whole-section slides of 108 consecutive primary ICC cases were immunostained against BAP1 and PBRM1. Complete loss of BAP1 and PBRM1 was observed in 21 (19...
November 19, 2016: Histopathology
https://www.readbyqxmd.com/read/27859460/diagnostic-utility-of-bap1-and-ezh2-expression-in-malignant-mesothelioma
#17
Aya Shinozaki-Ushiku, Tetsuo Ushiku, Shigeki Morita, Masaki Anraku, Jun Nakajima, Masashi Fukayama
AIMS: Malignant mesothelioma is a highly aggressive cancer usually diagnosed at advanced stages; thus, highly sensitive and specific markers are necessary for its early definitive diagnosis. The aim of the study is to evaluate the diagnostic utility and prognostic significance of BRCA1-Associated Protein 1 (BAP1) and enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) in malignant mesothelioma. METHODS AND RESULTS: The expression of BAP1 and EZH2 was investigated by immunohistochemistry in 32 malignant mesothelioma and 44 benign mesothelial proliferative lesions, including well-differentiated papillary mesothelioma (n = 4), mesothelial inclusion cyst (n = 22), and reactive mesothelial hyperplasia (n = 18)...
November 11, 2016: Histopathology
https://www.readbyqxmd.com/read/27834213/high-density-array-cgh-with-targeted-ngs-unmask-multiple-noncontiguous-minute-deletions-on-chromosome-3p21-in-mesothelioma
#18
Yoshie Yoshikawa, Mitsuru Emi, Tomoko Hashimoto-Tamaoki, Masaki Ohmuraya, Ayuko Sato, Tohru Tsujimura, Seiki Hasegawa, Takashi Nakano, Masaki Nasu, Sandra Pastorino, Agata Szymiczek, Angela Bononi, Mika Tanji, Ian Pagano, Giovanni Gaudino, Andrea Napolitano, Chandra Goparaju, Harvey I Pass, Haining Yang, Michele Carbone
We used a custom-made comparative genomic hybridization array (aCGH; average probe interval 254 bp) to screen 33 malignant mesothelioma (MM) biopsies for somatic copy number loss throughout the 3p21 region (10.7 Mb) that harbors 251 genes, including BRCA1 (breast cancer 1)-associated protein 1 (BAP1), the most commonly mutated gene in MM. We identified frequent minute biallelic deletions (<3 kb) in 46 of 251 genes: four were cancer-associated genes: SETD2 (SET domain-containing protein 2) (7 of 33), BAP1 (8 of 33), PBRM1 (polybromo 1) (3 of 33), and SMARCC1 (switch/sucrose nonfermentable- SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily c, member 1) (2 of 33)...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27819754/urological-cancer-related-to-familial-syndromes
#19
Walter Henriques da Costa, George Jabboure, Isabela Werneck da Cunha
Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC), succinate de¬hydrogenase kidney cancer (SDH-RCC), and more recently BAP1 germline mutation re¬lated RCC...
November 2, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27819678/tet2-binds-the-androgen-receptor-and-loss-is-associated-with-prostate-cancer
#20
M L Nickerson, S Das, K M Im, S Turan, S I Berndt, H Li, H Lou, S A Brodie, J N Billaud, T Zhang, A J Bouk, D Butcher, Z Wang, L Sun, K Misner, W Tan, A Esnakula, D Esposito, W Y Huang, R N Hoover, M A Tucker, J R Keller, J Boland, K Brown, S K Anderson, L E Moore, W B Isaacs, S J Chanock, M Yeager, M Dean, T Andresson
Genetic alterations associated with prostate cancer (PCa) may be identified by sequencing metastatic tumour genomes to identify molecular markers at this lethal stage of disease. Previously, we characterized somatic alterations in metastatic tumours in the methylcytosine dioxygenase ten-eleven translocation 2 (TET2), which is altered in 5-15% of myeloid, kidney, colon and PCas. Genome-wide association studies previously identified non-coding risk variants associated with PCa and melanoma. We perform fine-mapping of PCa risk across TET2 using genotypes from the PEGASUS case-control cohort and identify six new risk variants in introns 1 and 2...
November 7, 2016: Oncogene
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