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

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorDELAHAYE-SOURDEIX, Manon
dc.contributor.authorOLIVER, Javier
dc.contributor.authorTIMOFEEVA, Maria N.
dc.contributor.authorGABORIEAU, Valerie
dc.contributor.authorJOHANSSON, Mattias
dc.contributor.authorCHABRIER, Amelie
dc.contributor.authorWOZNIAK, Magdalena B.
dc.contributor.authorBRENNER, Darren R.
dc.contributor.authorVALLEE, Maxime P.
dc.contributor.authorANANTHARAMAN, Devasena
dc.contributor.authorLAGIOU, Pagona
dc.contributor.authorHOLCATOVA, Ivana
dc.contributor.authorRICHIARDI, Lorenzo
dc.contributor.authorKJAERHEIM, Kristina
dc.contributor.authorAGUDO, Antonio
dc.contributor.authorCASTELLSAGUE, Xavier
dc.contributor.authorMACFARLANE, Tatiana V.
dc.contributor.authorBARZAN, Luigi
dc.contributor.authorCANOVA, Cristina
dc.contributor.authorTHAKKER, Nalin S.
dc.contributor.authorCONWAY, David I.
dc.contributor.authorZNAOR, Ariana
dc.contributor.authorHEALY, Claire M.
dc.contributor.authorAHRENS, Wolfgang
dc.contributor.authorZARIDZE, David
dc.contributor.authorSZESZENIA-DABROWSKA, Neonilia
dc.contributor.authorLISSOWSKA, Jolanta
dc.contributor.authorFABIANOVA, Eleonora
dc.contributor.authorMATES, Ioan Nicolae
dc.contributor.authorBENCKO, Vladimir
dc.contributor.authorFORETOVA, Lenka
dc.contributor.authorJANOUT, Vladimir
dc.contributor.authorCURADO, Maria Paula
dc.contributor.authorKOIFMAN, Sergio
dc.contributor.authorMENEZES, Ana
dc.contributor.authorWUENSCH-FILHO, Victor
dc.contributor.authorELUF-NETO, Jose
dc.contributor.authorBOFFETTA, Paolo
dc.contributor.authorGARROTE, Leticia Fernandez
dc.contributor.authorSERRAINO, Diego
dc.contributor.authorLENER, Marcin
dc.contributor.authorJAWOROWSKA, Ewa
dc.contributor.authorLUBINSKI, Jan
dc.contributor.authorBOCCIA, Stefania
dc.contributor.authorRAJKUMAR, Thangarajan
dc.contributor.authorSAMANT, Tanuja A.
dc.contributor.authorMAHIMKAR, Manoj B.
dc.contributor.authorMATSUO, Keitaro
dc.contributor.authorFRANCESCHI, Silvia
dc.contributor.authorBYRNES, Graham
dc.contributor.authorBRENNAN, Paul
dc.contributor.authorMCKAY, James D.
dc.date.accessioned2015-10-26T16:31:38Z
dc.date.available2015-10-26T16:31:38Z
dc.date.issued2015
dc.description.abstractGenetic 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.
dc.description.indexMEDLINE
dc.description.sponsorshipUS National Institutes of Health [R01 CA092039 05/05S1]
dc.description.sponsorshipNational Institute of Dental and Craniofacial Research [1R03DE020116]
dc.identifier.citationPLOS ONE, v.10, n.3, article ID e0117639, 12p, 2015
dc.identifier.doi10.1371/journal.pone.0117639
dc.identifier.issn1932-6203
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/11770
dc.language.isoeng
dc.publisherPUBLIC LIBRARY SCIENCE
dc.relation.ispartofPlos One
dc.rightsopenAccess
dc.rights.holderCopyright PUBLIC LIBRARY SCIENCE
dc.subject.otherdifferential expression analysis
dc.subject.othergenome-wide association
dc.subject.otherhomologous recombination
dc.subject.othersynthetically lethal
dc.subject.otherrad52 inactivation
dc.subject.otherbreak repair
dc.subject.otherlung-cancer
dc.subject.otherrna-seq
dc.subject.otherrisk
dc.subject.otherbrca2
dc.subject.wosMultidisciplinary Sciences
dc.titleThe 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryNoruega
hcfmusp.affiliation.countryFrança
hcfmusp.affiliation.countryEscócia
hcfmusp.affiliation.countryGrécia
hcfmusp.affiliation.countryRepública Tcheca
hcfmusp.affiliation.countryItália
hcfmusp.affiliation.countryEspanha
hcfmusp.affiliation.countryInglaterra
hcfmusp.affiliation.countryCroácia
hcfmusp.affiliation.countryIrlanda
hcfmusp.affiliation.countryAlemanha
hcfmusp.affiliation.countryRússia
hcfmusp.affiliation.countryPolônia
hcfmusp.affiliation.countryEslováquia
hcfmusp.affiliation.countryRomênia
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryCuba
hcfmusp.affiliation.countryÍndia
hcfmusp.affiliation.countryJapão
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hcfmusp.author.externalDELAHAYE-SOURDEIX, Manon:IARC, Genet Canc Susceptibil Grp GCS, Lyon, France
hcfmusp.author.externalOLIVER, Javier:IARC, Genet Canc Susceptibil Grp GCS, Lyon, France
hcfmusp.author.externalTIMOFEEVA, Maria N.:IARC, GEP, Lyon, France; Univ Edinburgh, Inst Genet & Mol Med, Colon Canc Genet Grp, Edinburgh, Midlothian, Scotland; MRC, Human Genet Unit, Edinburgh, Midlothian, Scotland
hcfmusp.author.externalGABORIEAU, Valerie:IARC, GEP, Lyon, France
hcfmusp.author.externalJOHANSSON, Mattias:IARC, GEP, Lyon, France
hcfmusp.author.externalCHABRIER, Amelie:IARC, Genet Canc Susceptibil Grp GCS, Lyon, France
hcfmusp.author.externalWOZNIAK, Magdalena B.:IARC, GEP, Lyon, France
hcfmusp.author.externalBRENNER, Darren R.:IARC, GEP, Lyon, France
hcfmusp.author.externalVALLEE, Maxime P.:IARC, Genet Canc Susceptibil Grp GCS, Lyon, France
hcfmusp.author.externalANANTHARAMAN, Devasena:IARC, GEP, Lyon, France
hcfmusp.author.externalLAGIOU, Pagona:Univ Athens, Sch Med, Dept Hyg Epidemiol & Med Stat, GR-11527 Athens, Greece
hcfmusp.author.externalHOLCATOVA, Ivana:Charles Univ Prague, Fac Med 1, Inst Hyg & Epidemiol, Prague, Czech Republic
hcfmusp.author.externalRICHIARDI, Lorenzo:Univ Turin, Dept Med Sci, Canc Epidemiol Unit, Turin, Italy
hcfmusp.author.externalKJAERHEIM, Kristina:Canc Registry Norway, Oslo, Norway
hcfmusp.author.externalAGUDO, Antonio:IDIBELL Hosp Llobregat, Catalan Inst Oncology ICO, Barcelona, Spain
hcfmusp.author.externalCASTELLSAGUE, Xavier:IDIBELL Hosp Llobregat, Catalan Inst Oncology ICO, Barcelona, Spain; CIBER Epidemiol & Salud Publ CIBERESP, Madrid, Spain
hcfmusp.author.externalMACFARLANE, Tatiana V.:Univ Aberdeen, Sch Med & Dent, Aberdeen, Scotland
hcfmusp.author.externalBARZAN, Luigi:Gen Hosp Pordenone, Pordenone, Italy
hcfmusp.author.externalCANOVA, Cristina:Univ Padua, Dept Environm Med & Publ Hlth, Padua, Italy; Imperial Coll, Natl Heart & Lung Inst, MRC HPA Ctr Environm & Hlth, Resp Epidemiol & Publ Hlth, London, England
hcfmusp.author.externalTHAKKER, Nalin S.:Univ Manchester, Sch Dent, Manchester, Lancs, England
hcfmusp.author.externalCONWAY, David I.:Univ Glasgow, Sch Dent, Glasgow, Lanark, Scotland
hcfmusp.author.externalZNAOR, Ariana:Croatian Natl Inst Publ Hlth, Croatian Natl Canc Registry, Zagreb, Croatia
hcfmusp.author.externalHEALY, Claire M.:Trinity Coll Dublin, Sch Dent Sci, Dublin, Ireland
hcfmusp.author.externalAHRENS, Wolfgang:Leibniz Inst Prevent Res & Epidemiol BIPS, Bremen, Germany; Univ Bremen, Fac Math & Comp Sci, D-28359 Bremen, Germany
hcfmusp.author.externalZARIDZE, David:Russian Acad Med Sci, Canc Res Ctr, Inst Carcinogenesis, Moscow, Russia
hcfmusp.author.externalSZESZENIA-DABROWSKA, Neonilia:Inst Occupat Med, Dept Epidemiol, Lodz, Poland
hcfmusp.author.externalLISSOWSKA, Jolanta:M Sklodowska Curie Mem Canc Ctr, Dept Canc Epidemiol & Prevent, Warsaw, Poland; Inst Oncol, Warsaw, Poland
hcfmusp.author.externalFABIANOVA, Eleonora:Reg Author Publ Hlth, Banska Bystrica, Slovakia
hcfmusp.author.externalMATES, Ioan Nicolae:Carol Davila Univ Med & Pharm, St Mary Gen & Esophageal Surg Clin, Bucharest, Romania
hcfmusp.author.externalBENCKO, Vladimir:Charles Univ Prague, Fac Med 1, Inst Hyg & Epidemiol, Prague, Czech Republic
hcfmusp.author.externalFORETOVA, Lenka:Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic; Masaryk Univ, Brno, Czech Republic
hcfmusp.author.externalJANOUT, Vladimir:Palacky Univ, CR-77147 Olomouc, Czech Republic
hcfmusp.author.externalCURADO, Maria Paula:IPRI, Ecully, France
hcfmusp.author.externalKOIFMAN, Sergio:Fiocruz MS, Natl Sch Publ Hlth, BR-21045900 Rio De Janeiro, Brazil
hcfmusp.author.externalMENEZES, Ana:Univ Fed Pelotas, Pelotas, Brazil
hcfmusp.author.externalWUENSCH-FILHO, Victor:Univ Sao Paulo, Sao Paulo, Brazil
hcfmusp.author.externalBOFFETTA, Paolo:Mt Sinai Sch Med, Tisch Canc Inst, New York, NY USA
hcfmusp.author.externalGARROTE, Leticia Fernandez:Inst Oncol & Radiobiol, Havana, Cuba
hcfmusp.author.externalSERRAINO, Diego:IRCSS, Ctr Riferimento Oncol, Unit Epidemiol & Biostat, Aviano, Italy
hcfmusp.author.externalLENER, Marcin:Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
hcfmusp.author.externalJAWOROWSKA, Ewa:Pomeranian Med Univ, Dept Otolaryngol & Laryngol Oncol, Szczecin, Poland
hcfmusp.author.externalLUBINSKI, Jan:Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
hcfmusp.author.externalBOCCIA, Stefania:Univ Cattolica Sacro Cuore, Fac Med, Sect Hyg, Inst Publ Hlth, Rome, Italy
hcfmusp.author.externalRAJKUMAR, Thangarajan:Canc Inst WIA, Dept Mol Oncol, Madras, Tamil Nadu, India
hcfmusp.author.externalSAMANT, Tanuja A.:Tata Mem Hosp, Adv Ctr Treatment Res & Educ Canc, Canc Res Inst, Navi Mumbai, India
hcfmusp.author.externalMAHIMKAR, Manoj B.:Tata Mem Hosp, Adv Ctr Treatment Res & Educ Canc, Canc Res Inst, Navi Mumbai, India
hcfmusp.author.externalMATSUO, Keitaro:Kyushu Dent Univ, Div Oral Pathol, Dept Hlth Promot, Kitakyushu, Fukuoka, Japan
hcfmusp.author.externalFRANCESCHI, Silvia:IARC, Infect & Canc Epidemiol Grp ICE, Lyon, France
hcfmusp.author.externalBYRNES, Graham:IARC, Biostat Grp BST, Lyon, France
hcfmusp.author.externalBRENNAN, Paul:IARC, GEP, Lyon, France
hcfmusp.author.externalMCKAY, James D.:IARC, Genet Canc Susceptibil Grp GCS, Lyon, France
hcfmusp.citation.scopus10
hcfmusp.contributor.author-fmusphcJOSE ELUF NETO
hcfmusp.description.articlenumbere0117639
hcfmusp.description.issue3
hcfmusp.description.volume10
hcfmusp.origemWOS
hcfmusp.origem.pubmed25793373
hcfmusp.origem.scopus2-s2.0-84925955087
hcfmusp.origem.wosWOS:000352084200015
hcfmusp.publisher.citySAN FRANCISCO
hcfmusp.publisher.countryUSA
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