نتایج جستجو برای: cdkn2a

تعداد نتایج: 2929  

Journal: :Neuro-oncology 2013
Anna Luisa Di Stefano Victor Enciso-Mora Yannick Marie Virginie Desestret Marianne Labussière Blandine Boisselier Karima Mokhtari Ahmed Idbaih Khe Hoang-Xuan Jean-Yves Delattre Richard S Houlston Marc Sanson

BACKGROUND Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1). MATERIALS AND METHODS We studied the relationship among these 7 glioma-risk SNPs and characteristics of tumors from 1374 p...

2010
F. Demenais H. Mohamdi V. Chaudru A. M. Goldstein J. A. Newton Bishop D. T. Bishop P. A. Kanetsky N. K. Hayward E. Gillanders D. E. Elder M. F. Avril E. Azizi P. van Belle W. Bergman G. Bianchi-Scarrà B. Bressac-de Paillerets D. Calista C. Carrera J. Hansson M. Harland D. Hogg V. Höiom E. A. Holland C. Ingvar M. T. Landi J. M. Lang R. M. Mackie G. J. Mann M. E. Ming C. J. Njauw H. Olsson J. Palmer L. Pastorino S. Puig J. Randerson-Moor M. Stark H. Tsao M. A. Tucker P. van der Velden X. R. Yang N. Gruis

BACKGROUND Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of bo...

2017
Steven F. Gameiro Bart Kolendowski Ali Zhang John W. Barrett Anthony C. Nichols Joe Torchia Joe S. Mymryk

High-risk human papillomaviruses (HPV) cause cancer at multiple distinct anatomical locations. Regardless of the tissue of origin, most HPV positive (HPV+) cancers show highly upregulated expression of the p16 product of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene. Paradoxically, HPV+ tumor cells require continuous expression of this tumor suppressor for survival. Thus, restoration o...

Journal: :Journal of medical genetics 1999
A Ruiz S Puig J Malvehy C Lázaro M Lynch A M Gimenez-Arnau L Puig J Sánchez-Conejo X Estivill T Castel

The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene. In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families, an...

Journal: :Cancer biology & therapy 2011
Marina Di Domenico Angela Santoro Carmela Ricciardi Mirella Iaccarino Stefania Iaccarino Mariagrazia Freda Antonia Feola Francesca Sanguedolce Simona Losito Daniela Pasquali Attilio Di Spiezio Sardo Giuseppe Bifulco Carmine Nappi Pantaleo Bufo Maurizio Guida Gaetano De Rosa Alberto Abbruzzese Michele Caraglia Giuseppe Pannone

Transcriptional silencing by CpG island hypermethylation plays a critical role in endometrial carcinogenesis. In a collection of benign, premalignant and malignant endometrial lesions, a methylation profile of a complete gene panel, such steroid receptors (ERα, PR), DNA mismatch repair (hMLH1), tumor-suppressor genes (CDKN2A/P16 and CDH1/E-CADHERIN) and WNT pathway inhibitors (SFRP1, SFRP2, SFR...

2014
Joan Anton Puig-Butille María José Escámez Francisco Garcia-Garcia Gemma Tell-Marti Àngels Fabra Lucía Martínez-Santamaría Celia Badenas Paula Aguilera Marta Pevida Joaquín Dopazo Marcela del Río Susana Puig

Germline mutations in CDKN2A and/or red hair color variants in MC1R genes are associated with an increased susceptibility to develop cutaneous melanoma or non melanoma skin cancer. We studied the impact of the CDKN2A germinal mutation p.G101W and MC1R variants on gene expression and transcription profiles associated with skin cancer. To this end we set-up primary skin cell co-cultures from sibl...

Journal: :Blood 2010
Fabrice Jardin Jean-Philippe Jais Thierry-Jo Molina Françoise Parmentier Jean-Michel Picquenot Philippe Ruminy Hervé Tilly Christian Bastard Gilles-André Salles Pierre Feugier Catherine Thieblemont Christian Gisselbrecht Aurelien de Reynies Bertrand Coiffier Corinne Haioun Karen Leroy

Genomic alterations play a crucial role in the development and progression of diffuse large B-cell lymphomas (DLBCLs). We determined gene copy number alterations (GCNAs) of TP53, CDKN2A, CDKN1B, BCL2, MYC, REL, and RB1 with a single polymerase chain reaction (PCR) assay (quantitative multiplex PCR of short fragments [QMPSF]) in a cohort of 114 patients with DLBCL to assess their prognostic valu...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Current oncology 2015
J Gao R P Adams S M Swain

Palbociclib, an oral small-molecule inhibitor of cyclin-dependent kinases 4 and 6, was recently approved by the U.S. Food and Drug Administration in combination with letrozole for postmenopausal women with advanced hormone receptor-positive, her2-negative breast cancer. Patients with loss of CDKN2A (p16), an inherent negative regulator of cyclin-dependent kinases 4 and 6, were not separately st...

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