Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/120748
Title: Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer
Author: Puig Butillé, Joan Anton
Escamez, Maria José
Garcia-García, Francisco
Tell-Marti, Gemma
Fabra Fres, Àngels
Martínez-Santamaría, Lucía
Badenas, Celia
Aguilera, Paula
Pevida, Marta
Dopazo, Joaquín
Río, Marcela del
Puig i Sardà, Susana
Keywords: Melanoma
Herència humana
Expressió gènica
Càncer de pell
Marcadors bioquímics
Melanoma
Heredity in humans
Gene expression
Skin cancer
Biochemical markers
Issue Date: 16-Dec-2013
Publisher: Impact Journals
Abstract: 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 siblings of melanoma prone-families that were later analyzed using the expression array approach. As a result, we found that 1535 transcripts were deregulated in CDKN2A mutated cells, with over-expression of immunity-related genes (HLA-DPB1, CLEC2B, IFI44, IFI44L, IFI27, IFIT1, IFIT2, SP110 and IFNK) and down-regulation of genes playing a role in the Notch signaling pathway. 3570 transcripts were deregulated in MC1R variant carriers. In particular, genes related to oxidative stress and DNA damage pathways were up-regulated as well as genes associated with neurodegenerative diseases such as Parkinson's, Alzheimer and Huntington. Finally, we observed that the expression signatures indentified in phenotypically normal cells carrying CDKN2A mutations or MC1R variants are maintained in skin cancer tumors (melanoma and squamous cell carcinoma). These results indicate that transcriptome deregulation represents an early event critical for skin cancer development.
Note: Reproducció del document publicat a: https://doi.org/10.18632/oncotarget.1444
It is part of: Oncotarget, 2013, vol. 5, num. 6, p. 1439-1451
URI: http://hdl.handle.net/2445/120748
Related resource: https://doi.org/10.18632/oncotarget.1444
ISSN: 1949-2553
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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