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John R. Davies Rosalyn Jewell Paul Affleck Gabriella M. Anic Juliette Randerson‐Moor Aija Ozola Kathleen M. Egan Faye Elliott Zaida García‐Casado Johan Hansson Mark Harland Veronica Höiom Guan Jian Göran Jönsson Rajiv Kumar Eduardo Nagore Judith Wendt Håkan Olsson Jong Y. Park Poulam Patel Dace Pjanova Susana Puig Dirk Schadendorf P. Sivaramakrishna Rachakonda Helen Snowden Alexander J. Stratigos Dimitrios Bafaloukos Zighereda Ogbah Antje Sucker Joost J. Van den Oord Remco Van Doorn Christy Walker Ichiro Okamoto Pascal Wolter Jennifer H. Barrett D. Timothy Bishop Julia Newton‐Bishop 《International journal of cancer. Journal international du cancer》2014,135(7):1625-1633
We report the association of an inherited variant located upstream of the poly(adenosine diphosphate‐ribose) polymerase 1 (PARP1) gene (rs2249844), with survival in 11 BioGenoMEL melanoma cohorts. The gene encodes a protein involved in a number of cellular processes including single‐strand DNA repair. Survival analysis was conducted for each cohort using proportional hazards regression adjusting for factors known to be associated with survival. Survival was measured as overall survival (OS) and, where available, melanoma‐specific survival (MSS). Results were combined using random effects meta‐analysis. Evidence for a role of the PARP1 protein in melanoma ulceration and survival was investigated by testing gene expression levels taken from formalin‐fixed paraffin‐embedded tumors. A significant association was seen for inheritance of the rarer variant of PARP1, rs2249844 with OS (hazard ratio (HR) = 1.16 per allele, 95% confidence interval (CI) 1.04–1.28, p = 0.005, eleven cohorts) and MSS (HR = 1.20 per allele, 95% CI 1.01–1.39, p = 0.03, eight cohorts). We report bioinformatic data supportive of a functional effect for rs2249844. Higher levels of PARP1 gene expression in tumors were shown to be associated with tumor ulceration and poorer OS. 相似文献
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Joan A. Puig‐Butillé Celia Badenas Zighereda Ogbah Cristina Carrera Paula Aguilera Josep Malvehy Susana Puig 《Experimental dermatology》2013,22(2):148-150
Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS‐related pathways are present in 87.5% of acral lentiginous melanomas. 相似文献
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