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dc.contributor.authorHamdi, Y
dc.contributor.authorSoucy, P
dc.contributor.authorAdoue, V
dc.contributor.authorMichailidou, K
dc.contributor.authorCanisius, S
dc.contributor.authorLemaçon, A
dc.contributor.authorDroit, A
dc.contributor.authorAndrulis, IL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorArndt, V
dc.contributor.authorBaynes, C
dc.contributor.authorBlomqvist, C
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBolla, MK
dc.contributor.authorBonanni, B
dc.contributor.authorBorresen-Dale, A-L
dc.contributor.authorBrand, JS
dc.contributor.authorBrauch, H
dc.contributor.authorBrenner, H
dc.contributor.authorBroeks, A
dc.contributor.authorBurwinkel, B
dc.contributor.authorChang-Claude, J
dc.contributor.authorNBCS Collaborators,
dc.contributor.authorCouch, FJ
dc.contributor.authorCox, A
dc.contributor.authorCross, SS
dc.contributor.authorCzene, K
dc.contributor.authorDarabi, H
dc.contributor.authorDennis, J
dc.contributor.authorDevilee, P
dc.contributor.authorDörk, T
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorEriksson, M
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFlyger, H
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorGiles, GG
dc.contributor.authorGoldberg, MS
dc.contributor.authorGonzález-Neira, A
dc.contributor.authorGrenaker-Alnæs, G
dc.contributor.authorGuénel, P
dc.contributor.authorHaeberle, L
dc.contributor.authorHaiman, CA
dc.contributor.authorHamann, U
dc.contributor.authorHallberg, E
dc.contributor.authorHooning, MJ
dc.contributor.authorHopper, JL
dc.contributor.authorJakubowska, A
dc.contributor.authorJones, M
dc.contributor.authorKabisch, M
dc.contributor.authorKataja, V
dc.contributor.authorLambrechts, D
dc.contributor.authorLe Marchand, L
dc.contributor.authorLindblom, A
dc.contributor.authorLubinski, J
dc.contributor.authorMannermaa, A
dc.contributor.authorMaranian, M
dc.contributor.authorMargolin, S
dc.contributor.authorMarme, F
dc.contributor.authorMilne, RL
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorNeven, P
dc.contributor.authorOlswold, C
dc.contributor.authorPeto, J
dc.contributor.authorPlaseska-Karanfilska, D
dc.contributor.authorPylkäs, K
dc.contributor.authorRadice, P
dc.contributor.authorRudolph, A
dc.contributor.authorSawyer, EJ
dc.contributor.authorSchmidt, MK
dc.contributor.authorShu, X-O
dc.contributor.authorSouthey, MC
dc.contributor.authorSwerdlow, A
dc.contributor.authorTollenaar, RAEM
dc.contributor.authorTomlinson, I
dc.contributor.authorTorres, D
dc.contributor.authorTruong, T
dc.contributor.authorVachon, C
dc.contributor.authorVan Den Ouweland, AMW
dc.contributor.authorWang, Q
dc.contributor.authorWinqvist, R
dc.contributor.authorkConFab/AOCS Investigators,
dc.contributor.authorZheng, W
dc.contributor.authorBenitez, J
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorDunning, AM
dc.contributor.authorPharoah, PDP
dc.contributor.authorKristensen, V
dc.contributor.authorHall, P
dc.contributor.authorEaston, DF
dc.contributor.authorPastinen, T
dc.contributor.authorNord, S
dc.contributor.authorSimard, J
dc.date.accessioned2016-11-14T16:41:56Z
dc.date.issued2016-12-06
dc.identifier.citationOncotarget, 2016, 7 (49), pp. 80140 - 80163
dc.identifier.issn1949-2553
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/204
dc.identifier.eissn1949-2553
dc.identifier.doi10.18632/oncotarget.12818
dc.description.abstractThere are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.
dc.formatPrint
dc.format.extent80140 - 80163
dc.languageeng
dc.language.isoeng
dc.publisherIMPACT JOURNALS LLC
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectNBCS Collaborators
dc.subjectkConFab/AOCS Investigators
dc.subjectChromosomes, Human, Pair 4
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectDNA Helicases
dc.subjectCarrier Proteins
dc.subjectMitochondrial Proteins
dc.subjectOdds Ratio
dc.subjectRisk Assessment
dc.subjectRisk Factors
dc.subjectCase-Control Studies
dc.subjectGene Frequency
dc.subjectLinkage Disequilibrium
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectQuantitative Trait Loci
dc.subjectCanada
dc.subjectEurope
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.subjectBiomarkers, Tumor
dc.titleAssociation of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
dc.typeJournal Article
dcterms.dateAccepted2016-10-13
rioxxterms.versionofrecord10.18632/oncotarget.12818
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2016-12
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfOncotarget
pubs.issue49
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology
pubs.publication-statusPublished
pubs.volume7
pubs.embargo.termsNot known
icr.researchteamAetiological Epidemiology
dc.contributor.icrauthorJones, Michael
dc.contributor.icrauthorSwerdlow, Anthony


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