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dc.contributor.authorHamdi, Y
dc.contributor.authorSoucy, P
dc.contributor.authorKuchenbaeker, KB
dc.contributor.authorPastinen, T
dc.contributor.authorDroit, A
dc.contributor.authorLemaçon, A
dc.contributor.authorAdlard, J
dc.contributor.authorAittomäki, K
dc.contributor.authorAndrulis, IL
dc.contributor.authorArason, A
dc.contributor.authorArnold, N
dc.contributor.authorArun, BK
dc.contributor.authorAzzollini, J
dc.contributor.authorBane, A
dc.contributor.authorBarjhoux, L
dc.contributor.authorBarrowdale, D
dc.contributor.authorBenitez, J
dc.contributor.authorBerthet, P
dc.contributor.authorBlok, MJ
dc.contributor.authorBobolis, K
dc.contributor.authorBonadona, V
dc.contributor.authorBonanni, B
dc.contributor.authorBradbury, AR
dc.contributor.authorBrewer, C
dc.contributor.authorBuecher, B
dc.contributor.authorBuys, SS
dc.contributor.authorCaligo, MA
dc.contributor.authorChiquette, J
dc.contributor.authorChung, WK
dc.contributor.authorClaes, KBM
dc.contributor.authorDaly, MB
dc.contributor.authorDamiola, F
dc.contributor.authorDavidson, R
dc.contributor.authorDe la Hoya, M
dc.contributor.authorDe Leeneer, K
dc.contributor.authorDiez, O
dc.contributor.authorDing, YC
dc.contributor.authorDolcetti, R
dc.contributor.authorDomchek, SM
dc.contributor.authorDorfling, CM
dc.contributor.authorEccles, D
dc.contributor.authorEeles, R
dc.contributor.authorEinbeigi, Z
dc.contributor.authorEjlertsen, B
dc.contributor.authorEMBRACE
dc.contributor.authorEngel, C
dc.contributor.authorGareth Evans, D
dc.contributor.authorFeliubadalo, L
dc.contributor.authorForetova, L
dc.contributor.authorFostira, F
dc.contributor.authorFoulkes, WD
dc.contributor.authorFountzilas, G
dc.contributor.authorFriedman, E
dc.contributor.authorFrost, D
dc.contributor.authorGanschow, P
dc.contributor.authorGanz, PA
dc.contributor.authorGarber, J
dc.contributor.authorGayther, SA
dc.contributor.authorGEMO Study Collaborators
dc.contributor.authorGerdes, A-M
dc.contributor.authorGlendon, G
dc.contributor.authorGodwin, AK
dc.contributor.authorGoldgar, DE
dc.contributor.authorGreene, MH
dc.contributor.authorGronwald, J
dc.contributor.authorHahnen, E
dc.contributor.authorHamann, U
dc.contributor.authorHansen, TVO
dc.contributor.authorHart, S
dc.contributor.authorHays, JL
dc.contributor.authorHEBON
dc.contributor.authorHogervorst, FBL
dc.contributor.authorHulick, PJ
dc.contributor.authorImyanitov, EN
dc.contributor.authorIsaacs, C
dc.contributor.authorIzatt, L
dc.contributor.authorJakubowska, A
dc.contributor.authorJames, P
dc.contributor.authorJanavicius, R
dc.contributor.authorJensen, UB
dc.contributor.authorJohn, EM
dc.contributor.authorJoseph, V
dc.contributor.authorJust, W
dc.contributor.authorKaczmarek, K
dc.contributor.authorKarlan, BY
dc.contributor.authorKConFab Investigators
dc.contributor.authorKets, CM
dc.contributor.authorKirk, J
dc.contributor.authorKriege, M
dc.contributor.authorLaitman, Y
dc.contributor.authorLaurent, M
dc.contributor.authorLazaro, C
dc.contributor.authorLeslie, G
dc.contributor.authorLester, J
dc.contributor.authorLesueur, F
dc.contributor.authorLiljegren, A
dc.contributor.authorLoman, N
dc.contributor.authorLoud, JT
dc.contributor.authorManoukian, S
dc.contributor.authorMariani, M
dc.contributor.authorMazoyer, S
dc.contributor.authorMcGuffog, L
dc.contributor.authorMeijers-Heijboer, HEJ
dc.contributor.authorMeindl, A
dc.contributor.authorMiller, A
dc.contributor.authorMontagna, M
dc.contributor.authorMulligan, AM
dc.contributor.authorNathanson, KL
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorNussbaum, RL
dc.contributor.authorOlah, E
dc.contributor.authorOlopade, OI
dc.contributor.authorOng, K-R
dc.contributor.authorOosterwijk, JC
dc.contributor.authorOsorio, A
dc.contributor.authorPapi, L
dc.contributor.authorPark, SK
dc.contributor.authorPedersen, IS
dc.contributor.authorPeissel, B
dc.contributor.authorSegura, PP
dc.contributor.authorPeterlongo, P
dc.contributor.authorPhelan, CM
dc.contributor.authorRadice, P
dc.contributor.authorRantala, J
dc.contributor.authorRappaport-Fuerhauser, C
dc.contributor.authorRennert, G
dc.contributor.authorRichardson, A
dc.contributor.authorRobson, M
dc.contributor.authorRodriguez, GC
dc.contributor.authorRookus, MA
dc.contributor.authorSchmutzler, RK
dc.contributor.authorSevenet, N
dc.contributor.authorShah, PD
dc.contributor.authorSinger, CF
dc.contributor.authorSlavin, TP
dc.contributor.authorSnape, K
dc.contributor.authorSokolowska, J
dc.contributor.authorSønderstrup, IMH
dc.contributor.authorSouthey, M
dc.contributor.authorSpurdle, AB
dc.contributor.authorStadler, Z
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorSukiennicki, G
dc.contributor.authorSutter, C
dc.contributor.authorTan, Y
dc.contributor.authorTea, M-K
dc.contributor.authorTeixeira, MR
dc.contributor.authorTeulé, A
dc.contributor.authorTeo, S-H
dc.contributor.authorTerry, MB
dc.contributor.authorThomassen, M
dc.contributor.authorTihomirova, L
dc.contributor.authorTischkowitz, M
dc.contributor.authorTognazzo, S
dc.contributor.authorToland, AE
dc.contributor.authorTung, N
dc.contributor.authorvan den Ouweland, AMW
dc.contributor.authorvan der Luijt, RB
dc.contributor.authorvan Engelen, K
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorVaron-Mateeva, R
dc.contributor.authorWappenschmidt, B
dc.contributor.authorWijnen, JT
dc.contributor.authorRebbeck, T
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorOffit, K
dc.contributor.authorCouch, FJ
dc.contributor.authorNord, S
dc.contributor.authorEaston, DF
dc.contributor.authorAntoniou, AC
dc.contributor.authorSimard, J
dc.date.accessioned2016-11-18T16:12:32Z
dc.date.issued2017-01
dc.identifier.citationBreast cancer research and treatment, 2017, 161 (1), pp. 117 - 134
dc.identifier.issn0167-6806
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/212
dc.identifier.eissn1573-7217
dc.identifier.doi10.1007/s10549-016-4018-2
dc.description.abstractPurpose Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.Methods Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2.Results We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10 -6 ). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.Conclusion We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
dc.formatPrint-Electronic
dc.format.extent117 - 134
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectEMBRACE
dc.subjectGEMO Study Collaborators
dc.subjectHEBON
dc.subjectKConFab Investigators
dc.subjectChromosomes, Human, Pair 11
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectRisk
dc.subjectGene Expression
dc.subjectHeterozygote
dc.subjectMutation
dc.subjectAlleles
dc.subjectGenes, BRCA1
dc.subjectGenes, BRCA2
dc.subjectQuantitative Trait Loci
dc.subjectFemale
dc.subjectGenetic Variation
dc.subjectBiomarkers, Tumor
dc.titleAssociation of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
dc.typeJournal Article
dcterms.dateAccepted2016-10-08
rioxxterms.versionofrecord10.1007/s10549-016-4018-2
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2017-01
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfBreast cancer research and treatment
pubs.issue1
pubs.notesNo embargo
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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.publication-statusPublished
pubs.volume161
pubs.embargo.termsNo embargo
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorEeles, Rosalinden
dc.contributor.icrauthorMarsden,en


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