The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract

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art_DELAHAYE-SOURDEIX_The_12p1333RAD52_Locus_and_Genetic_Susceptibility_to_Squamous_2015.PDF (1.11 MB)
Citações na Scopus
10
Tipo de produção
article
Data de publicação
2015
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
PUBLIC LIBRARY SCIENCE
Autores
DELAHAYE-SOURDEIX, Manon
OLIVER, Javier
TIMOFEEVA, Maria N.
GABORIEAU, Valerie
JOHANSSON, Mattias
CHABRIER, Amelie
WOZNIAK, Magdalena B.
BRENNER, Darren R.
VALLEE, Maxime P.
ANANTHARAMAN, Devasena
Citação
PLOS ONE, v.10, n.3, article ID e0117639, 12p, 2015
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Genetic variants located within the 12p13.33/RAD52 locus have been associated with lung squamous cell carcinoma (LUSC). Here, within 5,947 UADT cancers and 7,789 controls from 9 different studies, we found rs10849605, a common intronic variant in RAD52, to be also associated with upper aerodigestive tract (UADT) squamous cell carcinoma cases (OR = 1.09, 95% CI: 1.04-1.15, p = 6x10(-4)). We additionally identified rs10849605 as a RAD52 cis-eQTL inUADT(p = 1x10(-3)) and LUSC (p = 9x10(-4)) tumours, with the UADT/LUSC risk allele correlated with increased RAD52 expression levels. The 12p13.33 locus, encompassing rs10849605/RAD52, was identified as a significant somatic focal copy number amplification in UADT(n = 374, q-value = 0.075) and LUSC (n = 464, q-value = 0.007) tumors and correlated with higher RAD52 tumor expression levels (p = 6x10(-48) and p = 3x10(-29) in UADT and LUSC, respectively). In combination, these results implicate increased RAD52 expression in both genetic susceptibility and tumorigenesis of UADT and LUSC tumors.
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URI
https://observatorio.fm.usp.br/handle/OPI/11770
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPR
Artigos e Materiais de Revistas Científicas - LIM/38
Artigos e Materiais de Revistas Científicas - ODS/03