Database : MEDLINE
Search on : Uveal and Neoplasms [Words]
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[PMID]: 29441921
[Au] Autor:Zhuo H; Zhou L
[Ti] Title:Gpnmb/osteoactivin: an indicator and therapeutic target in tumor and nontumorous lesions.
[So] Source:Pharmazie;71(10):555-561, 2016 Oct 01.
[Is] ISSN:0031-7144
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Non-metastatic melanoma glycoprotein B (Gpnmb), a type I transmembrane glycoprotein, was first cloned and described in low-metastatic human melanoma and xenografts in 1995. Up to now a growing number of studies have confirmed that Gpnmb is expressed not only in numerous normal tissues but also at pathological sites and malignant tissues and often connected with the invasive and metastatic phenotypes, including breast cancer. Nowadays, immunotherapeutic approaches for cancer therapy, by which monoclonal antibodies (Mabs) target tumor specific antigens, have shown great potential. Glembatumumabvedotin, also called CR011-vcMMAE, is a Mab-drug conjugate which was developed for the treatment of Gpnmb-expressing cancers. Several phase I/II studies have confirmed the safety and activity of glembatumumabvedotin in patients with advanced/metastatic breast cancer and unresectable cutaneous melanoma. Moreover, increasing numbers of studies have supported the potential roles of targeting Gpnmb with glembatumumabvedotin in patients with recurrent osteosarcoma, uveal melanoma, ALS, Gaucher disease, pancreatic ductal adenocarcinoma etc. This review will summarize the latest understanding of Gpnmb in the aspects of diagnosis, progression and prognosis of pathological disorders and neoplasms, emphasizing the clinical advances in targeting Gpnmb-expressing malignancies.
[Mh] MeSH terms primary: Antineoplastic Agents/pharmacology
Biomarkers, Tumor/analysis
Biomarkers/analysis
Membrane Glycoproteins/drug effects
Membrane Glycoproteins/metabolism
[Mh] MeSH terms secundary: Animals
Humans
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Antineoplastic Agents); 0 (Biomarkers); 0 (Biomarkers, Tumor); 0 (GPNMB protein, human); 0 (Membrane Glycoproteins)
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[Js] Journal subset:IM
[Da] Date of entry for processing:180215
[St] Status:MEDLINE
[do] DOI:10.1691/ph.2016.6683

  2 / 4763 MEDLINE  
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[PMID]: 29240458
[Au] Autor:Xu B; Ma R; Ren H; Qian J
[Ad] Address:Department of Ophthalmology, Eye, Ear, Nose, and Throat Hospital, Fudan University , Shanghai, China .
[Ti] Title:Genome-Wide Analysis of Uveal Melanoma Metastasis-Associated LncRNAs and Their Functional Network.
[So] Source:DNA Cell Biol;37(2):99-108, 2018 Feb.
[Is] ISSN:1557-7430
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Up to 50% of primary UM cases will develop distant metastasis, but no effective therapies are currently available. The present study aimed to characterize the expression profile of the long noncoding RNAs (lncRNAs) and screen the potential metastasis-associated lncRNAs in UM. A genome-wide analysis of the transcriptome was performed on 11 primary UM tissues (6 metastasized and 5 nonmetastasized) through RNA sequencing. A total of 40,878 lncRNAs were detected in UM, 4,983 of which were novel candidates. We identified 329 differentially expressed lncRNAs (DELs) and 802 differentially expressed mRNAs (DEMs) by comparing the transcriptome profile between metastasized and nonmetastasized UM group. The DEL-DEM coexpression network revealed that the RP11-551L14.4, TCONS_00004101, and TCONS_00004845 DELs had the highest connectivity with the DEMs, coexpressed with 225, 28, and 10 DEMs, respectively, whereas the SPOCD1, PEA15, and SLC44A3 DEMs were most closely connected with the DELs, and were coexpressed with 89, 27, and 22 DELs, respectively. Moreover, 17 and 743 DEMs were targeted by the DELs through cis- or trans-action, respectively. These targeted DEMs were significantly enriched in D-Arginine and D-ornithine metabolism and glycerolipid metabolism of Kyoto Encyclopedia of Genes and Genomes pathways, and enriched in bradykinin receptor activity and haptoglobin binding of gene ontology biological processes. Quantitative real-time PCR confirmed the sequencing data. These findings have provided new insights into the molecular mechanism of UM metastasis and paved the way for further investigations regarding lncRNA in UM.
[Mh] MeSH terms primary: Melanoma/metabolism
RNA, Long Noncoding/metabolism
Uveal Neoplasms/metabolism
[Mh] MeSH terms secundary: Gene Expression Regulation, Neoplastic
Gene Ontology
Gene Regulatory Networks
Genome-Wide Association Study
Humans
Melanoma/genetics
Melanoma/secondary
RNA, Long Noncoding/genetics
Transcriptome
Uveal Neoplasms/genetics
Uveal Neoplasms/pathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (RNA, Long Noncoding)
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[Js] Journal subset:IM
[Da] Date of entry for processing:171215
[St] Status:MEDLINE
[do] DOI:10.1089/dna.2017.4015

  3 / 4763 MEDLINE  
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[PMID]: 29317634
[Au] Autor:Field MG; Durante MA; Anbunathan H; Cai LZ; Decatur CL; Bowcock AM; Kurtenbach S; Harbour JW
[Ad] Address:Bascom Palmer Eye Institute, Sylvester Comprehensive Cancer Center and Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.
[Ti] Title:Punctuated evolution of canonical genomic aberrations in uveal melanoma.
[So] Source:Nat Commun;9(1):116, 2018 01 09.
[Is] ISSN:2041-1723
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Strikingly, we find BAP1 mutations and other canonical genomic aberrations usually arise in an early punctuated burst, followed by neutral evolution extending to the time of clinical detection. This implies that the metastatic proclivity of UM is "set in stone" early in tumor evolution and may explain why advances in primary treatment have not improved survival.
[Mh] MeSH terms primary: Melanoma/genetics
Tumor Suppressor Proteins/genetics
Ubiquitin Thiolesterase/genetics
Uveal Neoplasms/genetics
[Mh] MeSH terms secundary: Cluster Analysis
DNA Copy Number Variations
DNA Methylation
Evolution, Molecular
Humans
Mutation
Whole Exome Sequencing
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Name of substance:0 (Tumor Suppressor Proteins); EC 3.1.2.15 (BAP1 protein, human); EC 3.4.19.12 (Ubiquitin Thiolesterase)
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[Js] Journal subset:IM
[Da] Date of entry for processing:180111
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02428-w

  4 / 4763 MEDLINE  
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[PMID]: 29185101
[Au] Autor:Nguyen BT; Kim RS; Bretana ME; Kegley E; Schefler AC
[Ad] Address:Retina Consultants of Houston, 6560 Fannin Street, Suite 750, Houston, TX, 77030, USA.
[Ti] Title:Association between traditional clinical high-risk features and gene expression profile classification in uveal melanoma.
[So] Source:Graefes Arch Clin Exp Ophthalmol;256(2):421-427, 2018 Feb.
[Is] ISSN:1435-702X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:PURPOSE: To evaluate the association between traditional clinical high-risk features of uveal melanoma patients and gene expression profile (GEP). METHODS: This was a retrospective, single-center, case series of patients with uveal melanoma. Eighty-three patients met inclusion criteria for the study. Patients were examined for the following clinical risk factors: drusen/retinal pigment epithelium (RPE) changes, vascularity on B-scan, internal reflectivity on A-scan, subretinal fluid (SRF), orange pigment, apical tumor height/thickness, and largest basal dimensions (LBD). A novel point system was created to grade the high-risk clinical features of each tumor. Further analyses were performed to assess the degree of association between GEP and each individual risk factor, total clinical risk score, vascularity, internal reflectivity, American Joint Committee on Cancer (AJCC) tumor stage classification, apical tumor height/thickness, and LBD. RESULTS: Of the 83 total patients, 41 were classified as GEP class 1A, 17 as class 1B, and 25 as class 2. The presence of orange pigment, SRF, low internal reflectivity and vascularity on ultrasound, and apical tumor height/thickness ≥ 2 mm were not statistically significantly associated with GEP class. Lack of drusen/RPE changes demonstrated a trend toward statistical association with GEP class 2 compared to class 1A/1B. LBD and advancing AJCC stage was statistically associated with higher GEP class. CONCLUSIONS: In this cohort, AJCC stage classification and LBD were the only clinical features statistically associated with GEP class. Clinicians should use caution when inferring the growth potential of melanocytic lesions solely from traditional funduscopic and ultrasonographic risk factors without GEP data.
[Mh] MeSH terms primary: Biomarkers, Tumor/genetics
Gene Expression Profiling/methods
Melanoma/genetics
Neoplasm Staging
Uveal Neoplasms/genetics
[Mh] MeSH terms secundary: Adult
Aged
Biomarkers, Tumor/biosynthesis
Biopsy, Fine-Needle
Choroid/metabolism
Choroid/pathology
Female
Follow-Up Studies
Humans
Male
Melanoma/classification
Melanoma/diagnosis
Middle Aged
Prognosis
Retrospective Studies
Transcriptome
Uveal Neoplasms/classification
Uveal Neoplasms/diagnosis
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers, Tumor)
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[Js] Journal subset:IM
[Da] Date of entry for processing:171130
[St] Status:MEDLINE
[do] DOI:10.1007/s00417-017-3856-x

  5 / 4763 MEDLINE  
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[PMID]: 29244840
[Au] Autor:Xu H; Gong J; Liu H
[Ad] Address:Department of Ophthalmology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China.
[Ti] Title:High expression of lncRNA PVT1 independently predicts poor overall survival in patients with primary uveal melanoma.
[So] Source:PLoS One;12(12):e0189675, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The plasmacytoma variant translocation 1 gene (PVT1) plays an oncogenic role in the initiation and progression of multiple cancers. In this study, by using deep-sequencing data and follow-up data in the Cancer Genome Atlas-Uveal melanomas (TCGA-UVM), we assessed the association between the expression of PVT1 and clinicopathological characteristics of patients with uveal melanoma, the mechanism of its dysregulation and its prognostic value. Results showed that high PVT1 expression group had a higher proportion of epithelioid cell dominant disease (a more malignant histological subtype than spindle cell dominant disease) and more cases of extrascleral extension (a risk factor for metastasis) compared with the low PVT1 expression group. 61 out of 80 cases (76.3%) of primary uveal melanoma had PVT1 amplification in TCGA-UVM. In addition, PVT1 expression was strongly and negatively correlated with its methylation status (Pearson's r = -0.712, Spearman's r = -0.806). By performing univariate and multivariate analysis, we found that high PVT1 expression was an independent predictor of poor OS in patients with uveal melanoma (HR: 12.015, 95%CI: 1.854-77.876, p = 0.009). Based on these findings, we infer that PVT1 expression is modulated by both DNA amplification and methylation and its expression might serve as a valuable and specific prognostic biomarker in terms of OS in uveal melanoma.
[Mh] MeSH terms primary: Biomarkers, Tumor/genetics
Melanoma/genetics
RNA, Long Noncoding/genetics
Uveal Neoplasms/genetics
[Mh] MeSH terms secundary: Adult
Aged
Female
Gene Expression Regulation, Neoplastic
Humans
Male
Melanoma/pathology
Middle Aged
Prognosis
Uvea/metabolism
Uvea/pathology
Uveal Neoplasms/pathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers, Tumor); 0 (PVT1 long-non-coding RNA, human); 0 (RNA, Long Noncoding)
[Em] Entry month:1801
[Cu] Class update date: 180102
[Lr] Last revision date:180102
[Js] Journal subset:IM
[Da] Date of entry for processing:171216
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0189675

  6 / 4763 MEDLINE  
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[PMID]: 29187428
[Au] Autor:Berus T; Halon A; Markiewicz A; Orlowska-Heitzman J; Romanowska-Dixon B; Donizy P
[Ad] Address:The Clinical Ward of Ophthalmology, Fourth Military Clinical Hospital with Polyclinic, Wroclaw, Poland tberus@4wsk.pl.
[Ti] Title:Clinical, Histopathological and Cytogenetic Prognosticators in Uveal Melanoma - A Comprehensive Review.
[So] Source:Anticancer Res;37(12):6541-6549, 2017 12.
[Is] ISSN:1791-7530
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:Uveal melanoma is the most prevalent primary intraocular cancer in adults. Although it accounts for only 5% of all melanomas, it is responsible for 13% of deaths due to this type of cancer. A wide variety of therapeutic options of primary tumor is available and progress in its management is noticeable. The fact still remains, however, that almost half of patients develop metastases which may be due to practically undetectable cancer spread present as early as at diagnosis of the primary focus. Metastatic disease is uniformly fatal despite systemic therapy. Prediction of metastasis is crucial for prognosis. It also allows targeting of emerging new therapeutic methods to the appropriate group of patients. The Authors reviewed literature concerning epidemiology and etiopathogenesis of uveal melanoma, and its clinical, histopathological and cytogenetic prognosticators.
[Mh] MeSH terms primary: Cytogenetics
Melanoma/genetics
Pathology, Clinical
Uveal Neoplasms/genetics
[Mh] MeSH terms secundary: Chromosome Aberrations
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease/genetics
Humans
Melanoma/pathology
Mutation
Prognosis
Uveal Neoplasms/pathology
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 171211
[Lr] Last revision date:171211
[Js] Journal subset:IM
[Da] Date of entry for processing:171201
[St] Status:MEDLINE

  7 / 4763 MEDLINE  
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[PMID]: 27860480
[Au] Autor:Horkovicová K; Markus J; Krcová I; Babál P; Kobzová D; Smolková B
[Ti] Title:MUTÁCIA BRAF A MOZNOSTI IDENTIFIKÁCIE PROGNOSTICKÝCH MARKEROV METASTÁZOVANIA UVEÁLNEHO MELANÓMU. [THE BRAF MUTATION AND THE POSSIBILITIES OF UVEAL MELANOMA METASTASING PROGNOSTIC MARKERS IDENTIFICATION].
[So] Source:Cesk Slov Oftalmol;72(4):149-156, 2016.
[Is] ISSN:1211-9059
[Cp] Country of publication:Czech Republic
[La] Language:cze
[Ab] Abstract:AIM: The aim is to assess the BRAF gene mutations in patients with posterior uveal melanoma. MATERIAL AND METHODS: Retrospective analysis of the group of patients with malignant melanoma of the uvea, who were indicated to enucleation between 1.1 2015 to 1.3.2016. We analyzed stage of uveal melanoma, volume, cell type and BRAF gene mutations. RESULTS: In clinical study of 20 patients after enucleation due to uveal melanoma at the Department of Ophthalmology in Bratislava, patient age was ranged from 22 to 89 years with a median of 62 years. In 14 patients (70 %) enucleation was the primary treatment and in 6 patients (30 %) enucleation was after irradiation (brachytherapy, Leksell gama knife, linear accelerator). In 17 cases (85 %) the mutation of the BRAF gene was negative and in 3 cases the sample was not assessable for the BRAF mutation. CONCLUSION: BRAF gene mutation is confirmed by several studies found in malignant melanoma of the skin. The histopathology findings in our group did not confirmed our theory, that since the uveal melanoma itself has the similar origin as skin melanoma, should also contain a BRAF mutation.Key words: malignant melanoma of the uvea, mutation of the BRAF gene, chromosomal abnormalities as a prognostic factor.
[Mh] MeSH terms primary: Biomarkers, Tumor/genetics
Melanoma/genetics
Mutation
Proto-Oncogene Proteins B-raf/genetics
Uveal Neoplasms/genetics
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Brachytherapy
DNA Mutational Analysis
Eye Enucleation
Female
Humans
Male
Melanoma/pathology
Melanoma/surgery
Middle Aged
Neoplasm Metastasis/genetics
Prognosis
Retrospective Studies
Skin Neoplasms/genetics
Skin Neoplasms/pathology
Uveal Neoplasms/pathology
Uveal Neoplasms/surgery
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers, Tumor); EC 2.7.11.1 (BRAF protein, human); EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
[Em] Entry month:1711
[Cu] Class update date: 171128
[Lr] Last revision date:171128
[Js] Journal subset:IM
[Da] Date of entry for processing:161119
[St] Status:MEDLINE

  8 / 4763 MEDLINE  
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[PMID]: 27658977
[Au] Autor:Justusová P; Stubna M; Veselovský M; Lipková B
[Ti] Title:Exenterácia orbity u pacienta s generalizovaným choroidálnym melanómom. [Orbital Exenteration in Patient with Metastatic Choroidal Melanoma - a Case Report].
[So] Source:Cesk Slov Oftalmol;72(3):92-96, 2016.
[Is] ISSN:1211-9059
[Cp] Country of publication:Czech Republic
[La] Language:cze
[Ab] Abstract:INTRODUCTION: Uveal melanoma is the most common primary intraocular tumour in adults in Caucasians and in 75% is arising from choroid. It threatens not only the patients loss of vision and eye, but also 50% of patients after 5-year interval after therapy die due to distant metastases. The treatment of small and medium-sized melanoma are methods preserving eye globe. Almost half of the total number of patients is still unavoidable enucleation. Considerably rarer is indicated exenteration of an orbit. These tumors metastasize only hematogenous, while the most frequent place of localization of distant metastases is the liver. Generalized disease prognosis is poor, and our current treatment options in this stage are ineffective. MATERIAL AND METHODS: Case report of 59 years old patient with choroidal melanoma stage T4 N1 M1 massively infiltrating the orbit. At the time of diagnosis of the primary tumor distant metastases were present. The patient underwent exenteration of the orbit and systemic chemotherapy. DISCUSSION: Although choroidal melanomas with extrascleral extension and infiltration into the orbit have no better prognosis after exenteration of the orbit, surgery is providing us local tumour control. Good cosmetic effect after this mutilating procedure is offered by individually made prosthesis (epithesis). All patients with uveal melanoma require lifelong dispensation, distant metastases may occur even after many years. In the treatment of generalized disease is available systemic chemotherapy and immunotherapy only palliative. The best effect on survival has complete surgical resection of single metastasis. Uveal melanoma has a different genetic profile as cutaneous melanoma. The biological nature of uveal melanoma seems to be the key to determining risk patients, as well as the development of targeted systemic therapy. CONCLUSION: Treatment of patients with generalized large uveal melanoma with extrascleral extension is difficult. A better understanding of biological interest may be the key to the detection of patients at higher risk of distant metastases formation, and to an effective systemic treatment. KEY WORDS: large uveal melanoma, extrascleral extension, orbital exenteration, the treatment of generalized disease.
[Mh] MeSH terms primary: Choroid Neoplasms/surgery
Melanoma/surgery
Orbit Evisceration
Orbital Neoplasms/surgery
[Mh] MeSH terms secundary: Choroid Neoplasms/pathology
Humans
Male
Melanoma/secondary
Middle Aged
Orbit/surgery
Orbital Neoplasms/secondary
Prostheses and Implants
Treatment Outcome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171128
[Lr] Last revision date:171128
[Js] Journal subset:IM
[Da] Date of entry for processing:160924
[St] Status:MEDLINE

  9 / 4763 MEDLINE  
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[PMID]: 29166932
[Au] Autor:Ghosh K; Modi B; James WD; Capell BC
[Ad] Address:Penn Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
[Ti] Title:BAP1: case report and insight into a novel tumor suppressor.
[So] Source:BMC Dermatol;17(1):13, 2017 Nov 22.
[Is] ISSN:1471-5945
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. CASE PRESENTATION: Here we present the case of a 49-year-old female who presented with an asymptomatic dome-shaped pink papule on the dorsal foot which was found on biopsy to be deficient in the BAP1 tumor suppressor. While the patient's family history did not suggest the presence of a familial cancer syndrome, germline genetic testing was performed and was negative. The patient underwent surgical excision of this sporadically appearing "BAPoma" by Mohs surgery. CONCLUSIONS: Given the relatively banal clinical appearance of these dome-shaped neoplasms, sporadic BAPomas may often be overlooked by clinicians and dermatologists. In addition to providing a representative case, here we also provide a synopsis of the current understanding of these neoplasms, both in terms of the histopathological features, as well as the molecular mechanisms underlying BAP1 function and its ability to prevent tumorigenesis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:In-Process
[do] DOI:10.1186/s12895-017-0065-6

  10 / 4763 MEDLINE  
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[PMID]: 29088836
[Au] Autor:Lin M; Zhang L; Hildebrandt MAT; Huang M; Wu X; Ye Y
[Ad] Address:Department of General Surgery, Yangpu Hospital, Tongji University School of Medicine, Shanghai, People's Republic of China.
[Ti] Title:Common, germline genetic variations in the novel tumor suppressor and risk of developing different types of cancer.
[So] Source:Oncotarget;8(43):74936-74946, 2017 Sep 26.
[Is] ISSN:1949-2553
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BRCA1 associated protein-1 (BAP1) is a novel tumor suppressor that has recently been shown to be somatically mutated in several cancers. The gene also carries rare germline mutations in families with a high incidence of several types of cancers, such as mesothelioma, uveal melanoma, lung adenocarcinoma, melanocytic neoplasms, and renal cell carcinoma. To test the hypothesis that common, germline genetic variants in may also contribute to the risk of developing different types of cancer, we genotyped germline single nucleotide polymorphisms (SNPs) for in a large population of patients with cancer, including 2,340 with colorectal cancer, 1,436 with bladder cancer, 3,313 with lung cancer, 1,325 with renal cell carcinoma, and 1,162 with esophageal cancer. We identified significant association of rs11708581 (P = 0.0034) and rs390802 (P = 0.015) with risk of renal cell carcinoma and rs12163565 (P = 0.038) with risk of lung cancer. Expression quantitative trait loci analysis in renal cell carcinoma using publicly available data from TCGA showed that the proxy SNPs for rs11708581 and rs390802 were negatively associated with the expression level of BAP1. Our study indicate that common germline genetic variants of play a role in mediating the risk of developing renal cell carcinoma and lung cancer.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171104
[Lr] Last revision date:171104
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.18632/oncotarget.20465


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