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https://www.readbyqxmd.com/read/27911584/clinicopathological-characteristics-and-prognosis-for-survival-after-enucleation-of-uveal-melanoma-in-chinese-patients-long-term-follow-up
#1
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
#2
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
#3
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...
November 28, 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27864835/intrahepatic-cholangiocarcinoma-frequently-shows-loss-of-bap1-and-pbrm1-expression-and-demonstrates-specific-clinicopathologic-and-genetic-characteristics-with-bap1-loss
#4
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 analyzed its association with clinicopathological and genetic features, including two histologic 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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27813512/genomic-profiling-of-malignant-peritoneal-mesothelioma-reveals-recurrent-alterations-in-epigenetic-regulatory-genes-bap1-setd2-and-ddx3x
#9
Nancy M Joseph, Yunn-Yi Chen, Anthony Nasr, Iwei Yeh, Eric Talevich, Courtney Onodera, Boris C Bastian, Joseph T Rabban, Karuna Garg, Charles Zaloudek, David A Solomon
Malignant mesothelioma is a rare cancer that arises from the mesothelial cells that line the pleural cavity and less commonly from the peritoneal lining of the abdomen and pelvis. Most pleural mesotheliomas arise in patients with a history of asbestos exposure, whereas the association of peritoneal mesotheliomas with exposure to asbestos and other potential carcinogens is less clear, suggesting that the genetic alterations that drive malignant peritoneal mesothelioma may be unique from those in pleural mesothelioma...
November 4, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27772906/bap1-status-in-patients-with-malignant-mesothelioma-and-melanocytic-skin-lesions-an-immuno-morphological-study-in-western-australia
#10
Nima Mesbah Ardakani, Benjamin A Wood
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27771374/bap1-immunohistochemistry-has-limited-prognostic-utility-as-a-complement-of-cdkn2a-p16-fluorescence-in-situ-hybridization-in-malignant-pleural-mesothelioma
#11
Stephanie McGregor, James McElherne, Agata Minor, Jennifer Keller-Ramey, Ryan Dunning, Aliya N Husain, Wickii Vigneswaran, Carrie Fitzpatrick, Thomas Krausz
BRCA-associated protein 1 (BAP1) immunohistochemistry (IHC) and CDKN2A (p16) fluorescence in situ hybridization (FISH) have shown clinical utility in confirming the diagnosis of malignant pleural mesothelioma (MPM), but the role for using these two markers to guide clinical management is not yet clear. While p16 loss is predictive of poor prognosis, there is controversy as to whether BAP1 loss is predictive of a more favorable prognosis; how these results interact with one another has not been explored. We performed CDKN2A FISH on a previously published tissue microarray on which we had performed BAP1 IHC, revealing combined BAP1/p16 status for 93 MPM cases...
October 19, 2016: Human Pathology
https://www.readbyqxmd.com/read/27751729/genomic-biomarkers-of-a-randomized-trial-comparing-first-line-everolimus-and-sunitinib-in-patients-with-metastatic-renal-cell-carcinoma
#12
James J Hsieh, David Chen, Patricia I Wang, Mahtab Marker, Almedina Redzematovic, Ying-Bei Chen, S Duygu Selcuklu, Nils Weinhold, Nancy Bouvier, Kety H Huberman, Umesh Bhanot, Michael S Chevinsky, Parul Patel, Patrizia Pinciroli, Helen H Won, Daoqi You, Agnes Viale, William Lee, A Ari Hakimi, Michael F Berger, Nicholas D Socci, Emily H Cheng, Jennifer Knox, Martin H Voss, Maurizio Voi, Robert J Motzer
BACKGROUND: Metastatic renal cell carcinoma (RCC) patients are commonly treated with vascular endothelial growth factor (VEGF) inhibitors or mammalian target of rapamycin inhibitors. Correlations between somatic mutations and first-line targeted therapy outcomes have not been reported on a randomized trial. OBJECTIVE: To evaluate the relationship between tumor mutations and treatment outcomes in RECORD-3, a randomized trial comparing first-line everolimus (mTOR inhibitor) followed by sunitinib (VEGF inhibitor) at progression with the opposite sequence in 471 metastatic RCC patients...
October 14, 2016: European Urology
https://www.readbyqxmd.com/read/27751355/mesothelioma-families-without-inheritance-of-a-bap1-predisposing-mutation
#13
Valeria Ascoli, Ilaria Cozzi, Simona Vatrano, Stefania Izzo, Jessica Giorcelli, Elisa Romeo, Caterina Carnovale-Scalzo, Lucia Rosalba Grillo, Francesco Facciolo, Paolo Visca, Mauro Papotti, Luisella Righi
Familial malignant mesothelioma clusters are ideal candidates to explore BAP1 genomic status as a predisposing risk factor. We report data on BAP1 analysis in four families with multiple mesothelioma cases to investigate possible BAP1 alterations associated with an inherited cancer syndrome. We also recorded family history of cancer and assessed asbestos exposure. By genomic direct sequencing, we found no evidence of a BAP1 germline mutation in tumor DNA samples (one mesothelioma per family: n = 3 epithelioid; n = 1 biphasic)...
September 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27745836/comprehensive-genetic-landscape-of-uveal-melanoma-by-whole-genome-sequencing
#14
Beryl Royer-Bertrand, Matteo Torsello, Donata Rimoldi, Ikram El Zaoui, Katarina Cisarova, Rosanna Pescini-Gobert, Franck Raynaud, Leonidas Zografos, Ann Schalenbourg, Daniel Speiser, Michael Nicolas, Laureen Vallat, Robert Klein, Serge Leyvraz, Giovanni Ciriello, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we performed whole-genome sequencing at very deep coverage of tumor-control pairs in 33 samples (24 primary and 9 metastases). Genome-wide, the number of coding mutations was rather low (only 17 variants per tumor on average; range 7-28), thus radically different from cutaneous melanoma, where hundreds of exonic DNA insults are usually detected. Furthermore, no UV light-induced mutational signature was identified...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27718540/germline-bap1-alterations-in-familial-uveal-melanoma
#15
Karan Rai, Robert Pilarski, Getachew Boru, Muneeb Rehman, Ahmad H Saqr, James B Massengill, Arun Singh, Meghan J Marino, Frederick H Davidorf, Colleen M Cebulla, Mohamed H Abdel-Rahman
Uveal melanoma (UM) is the most commonly diagnosed primary intraocular tumor in adults. Familial UM (FUM), defined as two or more family members diagnosed with UM, is rare and estimated at less than 1% of all UM. Currently, BAP1 is the only gene known to contribute significant risk for UM. In this study we aimed to estimate the frequency of BAP1 mutation in FUM and to characterize the family and personal histories of other cancers in these families. We identified 32 families with FUM, including seven families previously reported by our group...
October 8, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27713405/molecular-analysis-of-aggressive-renal-cell-carcinoma-with-unclassified-histology-reveals-distinct-subsets
#16
Ying-Bei Chen, Jianing Xu, Anders Jacobsen Skanderup, Yiyu Dong, A Rose Brannon, Lu Wang, Helen H Won, Patricia I Wang, Gouri J Nanjangud, Achim A Jungbluth, Wei Li, Virginia Ojeda, A Ari Hakimi, Martin H Voss, Nikolaus Schultz, Robert J Motzer, Paul Russo, Emily H Cheng, Filippo G Giancotti, William Lee, Michael F Berger, Satish K Tickoo, Victor E Reuter, James J Hsieh
Renal cell carcinomas with unclassified histology (uRCC) constitute a significant portion of aggressive non-clear cell renal cell carcinomas that have no standard therapy. The oncogenic drivers in these tumours are unknown. Here we perform a molecular analysis of 62 high-grade primary uRCC, incorporating targeted cancer gene sequencing, RNA sequencing, single-nucleotide polymorphism array, fluorescence in situ hybridization, immunohistochemistry and cell-based assays. We identify recurrent somatic mutations in 29 genes, including NF2 (18%), SETD2 (18%), BAP1 (13%), KMT2C (10%) and MTOR (8%)...
October 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27664394/improvement-in-survival-end-points-of-patients-with-metastatic-renal-cell-carcinoma-through-sequential-targeted-therapy
#17
Emiliano Calvo, Manuela Schmidinger, Daniel Y C Heng, Viktor Grünwald, Bernard Escudier
Survival of patients with metastatic renal cell carcinoma (mRCC) has improved since the advent of targeted therapy. Approved agents include the multi-targeted tyrosine kinase inhibitors (TKIs) sunitinib, sorafenib, axitinib, pazopanib, cabozantinib, and lenvatinib (approved in combination with everolimus), the anti-VEGF monoclonal antibody bevacizumab, the mammalian target of rapamycin (mTOR) inhibitors everolimus and temsirolimus, and the programmed death-1 (PD-1) targeted immune checkpoint inhibitor nivolumab...
September 10, 2016: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/27660484/the-genetics-of-uveal-melanoma-current-insights
#18
REVIEW
Hildur Helgadottir, Veronica Höiom
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. By next-generation sequencing efforts on UM tumors, several driver genes have been detected...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27640074/rare-variants-analysis-of-cutaneous-malignant-melanoma-genes-in-parkinson-s-disease
#19
S J Lubbe, V Escott-Price, A Brice, T Gasser, A M Pittman, J Bras, J Hardy, P Heutink, N M Wood, A B Singleton, D G Grosset, C B Carroll, M H Law, F Demenais, M M Iles, D T Bishop, J Newton-Bishop, N M Williams, H R Morris
A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. No statistically significant enrichment of rare variants across all genes, per gene, or for any individual variant was detected in either cohort...
July 28, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27614970/bap1-immunohistochemistry-and-p16-fish-results-in-combination-provide-higher-confidence-in-malignant-pleural-mesothelioma-diagnosis-roc-analysis-of-the-two-tests
#20
Tomoyuki Hida, Makoto Hamasaki, Shinji Matsumoto, Ayuko Sato, Tohru Tsujimura, Kunimitsu Kawahara, Akinori Iwasaki, Tatsuro Okamoto, Yoshinao Oda, Hiroshi Honda, Kazuki Nabeshima
Differentiation of malignant pleural mesothelioma (MPM) from benign mesothelial proliferation remains problematic. Loss of nuclear staining of BRCA1-associated protein 1 (BAP1; detected using immunohistochemistry (IHC)) and homozygous deletion (HD) of p16 (detected using fluorescence in situ hybridization (FISH)) are useful for differentiation of MPM from reactive mesothelial hyperplasia (RMH), but the correlation between BAP1 expression loss and p16 HD has not been fully described. We performed BAP1 IHC and p16-specific FISH for 40 MPM and 20 RMH cases, and measured proportions of cells showing BAP1 expression and p16 HD for each case...
October 2016: Pathology International
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