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https://www.readbyqxmd.com/read/29219794/-a-brown-red-papule
#1
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
https://www.readbyqxmd.com/read/29212164/targeted-sequencing-of-established-and-candidate-colorectal-cancer-genes-in-the-colon-cancer-family-registry-cohort
#2
Leon Raskin, Yan Guo, Liping Du, Mark Clendenning, Christophe Rosty, Noralane M Lindor, Stephen B Gruber, Daniel D Buchanan
The underlying genetic cause of colorectal cancer (CRC) can be identified for 5-10% of all cases, while at least 20% of CRC cases are thought to be due to inherited genetic factors. Screening for highly penetrant mutations in genes associated with Mendelian cancer syndromes using next-generation sequencing (NGS) can be prohibitively expensive for studies requiring large samples sizes. The aim of the study was to identify rare single nucleotide variants and small indels in 40 established or candidate CRC susceptibility genes in 1,046 familial CRC cases (including both MSS and MSI-H tumor subtypes) and 1,006 unrelated controls from the Colon Cancer Family Registry Cohort using a robust and cost-effective DNA pooling NGS strategy...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29206890/validation-of-the-diagnosis-of-mesothelioma-and-bap1-protein-expression-in-a-cohort-of-asbestos-textile-workers-from-northern-italy
#3
P Boffetta, L Righi, C Ciocan, C Pelucchi, C La Vecchia, C Romano, M Papotti, E Pira
Background: Diagnosis of mesothelioma based on death certificate is subject to misclassification, which may bias the results of epidemiology studies. A high proportion of mesothelioma harbor mutations in the BRCA1-associated protein 1 (BAP1) gene. Methods: We searched medical and pathology records and specimens for 127 workers from a textile- asbestos factory in Italy who died during 1963-2013 with a diagnosis of pleural or peritoneal neoplasm or mesothelioma on death certificate, to confirm the diagnosis with immunohistochemistry (IHC) markers...
November 30, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29206651/novel-therapeutic-strategies-and-targets-in-advanced-uveal-melanoma
#4
Vivian Chua, Andrew E Aplin
PURPOSE OF REVIEW: Currently, there are no U.S. Food and Drug Administration-approved or effective treatment options for advanced-stage uveal melanoma. In this article, we focus on therapeutic targets in pathways/mechanisms associated with common mutations in uveal melanoma. We review the challenges associated with targeting of these pathways and novel treatment strategies. RECENT FINDINGS: Common mutations that promote uveal melanoma initiation and progression include alterations in G protein subunit alpha q/11 (GNAQ/GNA11) and breast cancer gene 1-associated protein 1 (BAP1)...
December 4, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/29187476/a-case-of-the-resected-lymphohistiocytoid-mesothelioma-bap1-is-a-key-of-accurate-diagnosis
#5
Taichi Matsubara, Gouji Toyokawa, Yuichi Yamada, Kazuki Nabeshima, Naoki Haratake, Yuka Kozuma, Takaki Akamine, Shinkichi Takamori, Fumihiro Shoji, Tatsuro Okamoto, Yoshihiko Maehara
BACKGROUND: Malignant mesothelioma (MM) is a well-known malignant tumor that occurs in the pleura and is histopathologically classified into three subtypes. Lymphohistiocytoid mesothelioma (LHM) is considered a variant of epithelioid MM, and few cases have been reported. First case of LHM was reported by Henderson et al. in 1988. It is difficult to precisely diagnose LHM, and it is often misdiagnosed as reactive mesothelial cell proliferation. CASE REPORT: An 82-year-old man, with the smoking history of nine pack-years, was referred to our Department due to an abnormal shadow and pleural effusion in the left lung field on the chest X-ray imaging...
December 2017: Anticancer Research
https://www.readbyqxmd.com/read/29169801/evaluating-melanocytic-lesions-with-single-nucleotide-polymorphism-snp-chromosomal-microarray
#6
Amin A Hedayat, Konstantinos Linos, Hou-Sung Jung, Laura J Tafe, Shaofeng Yan, Robert E LeBlanc, Joel A Lefferts
Histopathology is the gold standard for diagnosing melanocytic lesions; however, distinguishing benign versus malignant is not always clear histologically. Single nucleotide polymorphism (SNP) microarray analysis may help in making a definitive diagnosis. Here, we share our experience with the Oncoscan FFPE Assay and demonstrate its diagnostic utility in the context of ambiguous melanocytic lesions. Eleven archival melanocytic lesions, including three benign nevi, four melanomas, three BAP1-deficient Spitzoid nevi and one nevoid melanoma were selected for validation...
November 20, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29166932/bap1-case-report-and-insight-into-a-novel-tumor-suppressor
#7
Kanad Ghosh, Badri Modi, William D James, Brian C Capell
BACKGROUND: BRCA1-Associated-Protein 1 (BAP1) is a dynamic tumor suppressor which, when mutated, has been associated with an increased risk of uveal melanoma, cutaneous melanoma, mesothelioma, and several other cancers. Germline BAP1 mutations have been extensively studied, where they have been found to cause hereditary cancer susceptibility. However, their sporadic counterparts, tumors that display a loss of BAP1 expression due to somatically arising mutations in the BAP1 gene, remain a poorly described entity...
November 22, 2017: BMC Dermatology
https://www.readbyqxmd.com/read/29159179/mir-31-functions-as-an-oncomir-which-promotes-epithelial-mesenchymal-transition-via-regulating-bap1-in-cervical-cancer
#8
Nan Wang, Yong Li, Jianhong Zhou
MicroRNA-31 (miR-31) functions as tumor suppressors or oncogenes that are involved in tumor behavior. However, the function of miR-31 in cervical carcinogenesis remains unclear. The aim of this study was to validate the potential role of miR-31 and BRCA1-associated protein-1 (BAP1) on regulating epithelial-mesenchymal transition (EMT) in cervical cancer. In the present study, qRT-PCR assay revealed that the expression of miR-31 was upregulated in human cervical cancer cells and clinical tissues. Results of wound healing and cell migration assay revealed that knockdown of miR-31 inhibited cell metastasis and migration...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29158875/a-gene-module-based-eqtl-analysis-prioritizing-disease-genes-and-pathways-in-kidney-cancer
#9
Mary Qu Yang, Dan Li, William Yang, Yifan Zhang, Jun Liu, Weida Tong
Clear cell renal cell carcinoma (ccRCC) is the most common and most aggressive form of renal cell cancer (RCC). The incidence of RCC has increased steadily in recent years. The pathogenesis of renal cell cancer remains poorly understood. Many of the tumor suppressor genes, oncogenes, and dysregulated pathways in ccRCC need to be revealed for improvement of the overall clinical outlook of the disease. Here, we developed a systems biology approach to prioritize the somatic mutated genes that lead to dysregulation of pathways in ccRCC...
2017: Computational and Structural Biotechnology Journal
https://www.readbyqxmd.com/read/29132830/characterizing-recurrent-and-lethal-small-renal-masses-in-clear-cell-renal-cell-carcinoma-using-recurrent-somatic-mutations
#10
Brandon J Manley, Ed Reznik, Mazyar Ghanaat, Mahyar Kashan, Maria F Becerra, Jozefina Casuscelli, Daniel Tennenbaum, Almedina Redzematovic, Maria I Carlo, Yusuke Sato, Maria Arcila, Martin H Voss, Darren R Feldman, Robert J Motzer, Paul Russo, Jonathan Coleman, James J Hsieh, Ari A Hakimi
INTRODUCTION: Small renal masses (SRMs) with evidence of clear cell renal cell carcinoma (ccRCC) are understudied. Current algorithms for the management of SRMs include surgical resection, ablation, and active surveillance. We sought to identify genomic biomarkers that could potentially refine the management of ccRCC in SRMs, especially in patients being evaluated for active surveillance. METHODS: We identified patients who had SRMs (4cm or less) at time of surgery, had sequencing performed on their primary tumor and had a diagnosis of ccRCC...
November 10, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/29122566/mutations-of-candidate-tumor-suppressor-genes-at-chromosome-3p-in-intrahepatic-cholangiocarcinoma
#11
Huey-Ling You, Wan-Ting Huang, Ting-Ting Liu, Shao-Wen Weng, Hock-Liew Eng
The genetic status of candidate tumor suppressor genes (TSGs) at chromosome 3p has not yet been elucidated in intrahepatic cholangiocarcinoma (iCCA). Herein, we retrospectively investigated 32 fresh iCCA case samples from a single medical institution to clarify mutations of 11 TSGs by next-generation sequencing. Validation of the mutations was performed on the MassARRAY platform or by high-resolution melting curve analysis. We then integrated the gene mutations into copy number alterations at chromosome 3p that had been generated in a previous study using the same fresh iCCA samples, and correlated the integration results with the clinicopathologic features...
November 7, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29118224/exceptional-response-to-temsirolimus-in-a-metastatic-clear-cell-renal-cell-carcinoma-with-an-early-novel-mtor-activating-mutation
#12
Juan Francisco Rodríguez-Moreno, María Apellaniz-Ruiz, Juan María Roldan-Romero, Ignacio Durán, Luis Beltrán, Cristina Montero-Conde, Alberto Cascón, Mercedes Robledo, Jesus García-Donas, Cristina Rodríguez-Antona
mTOR pathway inhibitors are important drugs for the treatment of advanced renal cell carcinoma (RCC). However, no valid predictive markers have been identified to guide treatment selection and identify patients who are sensitive to these drugs. Mutations activating the mTOR pathway have been suggested to predict response; however, their predictive value is still unclear. Here, we present the genomic and functional characterization of a patient with metastatic clear cell RCC (ccRCC) who experienced a partial response to temsirolimus after a poor response to 2 previous lines of treatment...
November 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29113987/bap1-is-a-novel-target-in-hpv-negative-head-and-neck-cancer
#13
Xiyou Liu, Liangpeng Yang, David P Molkentine, David Valdacanas, Shiying Yu, Manish Kumar, Raymond E Meyn, John Heymach, Heath D Skinner
PURPOSE: This study examined the potential role of the nuclear deubiquitinating enzyme BRCA1-associated protein-1 (BAP1) in radioresistance in head and neck squamous cell cancer (HNSCC). EXPERIMENTAL DESIGN: We overexpressed, knocked down, and rescued BAP1 expression in six HNSCC cell lines, three human papillomavirus (HPV) -negative and HPV-positive, and examined the effects on radiosensitivity in vitro and in HNSCC mouse xenograft models. Radiosensitivity was assessed by clonogenic cell survival and tumor growth delay assays; changes in protein expression were analyzed by immunofluorescence staining and western blotting...
November 7, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29105334/genetic-prognostication-in-uveal-melanoma
#14
REVIEW
Mehmet Dogrusöz, Martine J Jager
Uveal melanoma (UM) is a rare tumour with a high propensity to metastasize. Although no effective treatment for metastases yet exists, prognostication in UM is relevant for patient counselling, planning of follow-up and stratification in clinical trials. Besides conventional clinicopathologic characteristics, genetic tumour features with prognostic significance have been identified. Non-random chromosome aberrations such as monosomy 3 and gain of chromosome 8q are strongly correlated with metastatic risk, while gain of chromosome 6p indicates a low risk...
November 4, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29080080/ubiquitin-carboxyl-terminal-hydrolases-involvement-in-cancer-progression-and-clinical-implications
#15
Ying Fang, Xizhong Shen
Protein ubiquitination and deubiquitination participate in a number of biological processes, including cell growth, differentiation, transcriptional regulation, and oncogenesis. Ubiquitin C-terminal hydrolases (UCHs), a subfamily of deubiquitinating enzymes (DUBs), includes four members: UCH-L1/PGP9.5 (protein gene product 9.5), UCH-L3, UCHL5/UCH37, and BRCA1-associated protein-1 (BAP1). Recently, more attention has been paid to the relationship between the UCH family and malignancies, which play different roles in the progression of different tumors...
October 27, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/29076876/loss-of-bap1-expression-in-atypical-mesothelial-proliferations-helps-to-predict-malignant-mesothelioma
#16
Raghavendra Pillappa, Joseph J Maleszewski, William R Sukov, Patrick P Bedroske, Patricia T Greipp, Jennifer M Boland, Eunhee S Yi, Tobias Peikert, Marie Christine Aubry, Anja C Roden
Distinguishing reactive mesothelial proliferation from malignant mesothelioma (MM) can be difficult, particularly on small biopsies. In this scenario, a diagnosis of atypical mesothelial proliferation might be rendered. However, the distinction between a reactive process and MM is important for prognosis and treatment. Recently, loss of BRCA1-associated protein 1 (BAP1) expression and/or homozygous deletion of CDKN2A were identified in some MM, but not in reactive mesothelial proliferations. We studied 34 cases of atypical mesothelial proliferation from our institutional files (1993 to 2016) for BAP1 expression, deletion of CDKN2A, and clinical outcome...
October 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29069806/modulating-bap1-expression-affects-ros-homeostasis-cell-motility-and-mitochondrial-function
#17
Lucie Hebert, Dorine Bellanger, Chloé Guillas, Antoine Campagne, Florent Dingli, Damarys Loew, Alice Fievet, Virginie Jacquemin, Tatiana Popova, Didier Jean, Fatima Mechta-Grigoriou, Raphaël Margueron, Marc-Henri Stern
The tumor suppressor BAP1 associates with ASXL1/2 to form the core Polycomb complex PR-DUB, which catalyzes the removal of mono-ubiquitin from several substrates including histone H2A. This complex also mediates the poly-deubiquitination of HCFC1, OGT and PCG1-α, preventing them from proteasomal degradation. Surprisingly, considering its role in a Polycomb complex, no transcriptional signature was consistently found among BAP1-inactivated tumor types. It was hypothesized that BAP1 tumor suppressor activity could reside, at least in part, in stabilizing proteins through its poly-deubiquitinase activity...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29061644/comprehensive-pharmacogenomic-profiling-of-malignant-pleural-mesothelioma-identifies-a-subgroup-sensitive-to-fgfr-inhibition
#18
Josine M Quispel-Janssen, Jitendra Badhai, Laurel Schunselaar, Stacey Price, Jonathan S Brammeld, Francesco Iorio, Krishna K Kolluri, Mathew J Garnett, Anton Berns, Paul Baas, Ultan McDermott, Jacques Neefjes, Constantine Alifrangis
PURPOSE: Despite intense research, treatment options for patients with mesothelioma are limited and offer only modest survival advantage. We screened a large panel of compounds in multiple mesothelioma models, and correlated sensitivity with a range of molecular features to detect biomarkers of drug response. EXPERIMENTAL DESIGN: We utilised a high-throughput chemical inhibitor screen in a panel of 889 cancer cell lines, including both immortalised and primary early passage mesothelioma lines, alongside comprehensive molecular characterisation using Illumina whole exome sequencing, copy number analysis and Affymetrix array whole transcriptome profiling...
October 23, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29061454/malignant-peripheral-nerve-sheath-tumor-in-a-patient-with-bap1-tumor-predisposition-syndrome-case-report
#19
Megan C Kaszuba, Jose S Pulido, Andrew L Folpe, Pavel N Pichurin, McKinsey L Goodenberger, Robert J Spinner
BACKGROUND: Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome (BAP1-TPDS), a recently recognized hereditary cancer syndrome. CASE DESCRIPTION: A 50 year old female patient presented with a malignant peripheral nerve sheath tumor of the left fifth metatarsal head...
October 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29053210/a-combination-of-mtap-and-bap1-immunohistochemistry-in-pleural-effusion-cytology-for-the-diagnosis-of-mesothelioma
#20
Yoshiaki Kinoshita, Tomoyuki Hida, Makoto Hamasaki, Shinji Matsumoto, Ayuko Sato, Tohru Tsujimura, Kunimitsu Kawahara, Kenzo Hiroshima, Yoshinao Oda, Kazuki Nabeshima
BACKGROUND: Homozygous deletion of 9p21 detected by fluorescence in situ hybridization (FISH) and loss of BRCA1-associated protein 1 (BAP1) expression detected by immunohistochemistry (IHC) are useful for the differentiation between malignant pleural mesothelioma (MPM) and reactive mesothelial hyperplasia. The authors previously described that IHC expression of the protein product of the methylthioadenosine phosphorylase (MTAP) gene, which is localized in the 9p21 chromosomal region, was correlated with the deletion status of 9p21 FISH in MPM tissues...
October 20, 2017: Cancer
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