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dc.contributor.authorDörk, T
dc.contributor.authorPeterlongo, P
dc.contributor.authorMannermaa, A
dc.contributor.authorBolla, MK
dc.contributor.authorWang, Q
dc.contributor.authorDennis, J
dc.contributor.authorAhearn, T
dc.contributor.authorAndrulis, IL
dc.contributor.authorAnton-Culver, H
dc.contributor.authorArndt, V
dc.contributor.authorAronson, KJ
dc.contributor.authorAugustinsson, A
dc.contributor.authorFreeman, LEB
dc.contributor.authorBeckmann, MW
dc.contributor.authorBeeghly-Fadiel, A
dc.contributor.authorBehrens, S
dc.contributor.authorBermisheva, M
dc.contributor.authorBlomqvist, C
dc.contributor.authorBogdanova, NV
dc.contributor.authorBojesen, SE
dc.contributor.authorBrauch, H
dc.contributor.authorBrenner, H
dc.contributor.authorBurwinkel, B
dc.contributor.authorCanzian, F
dc.contributor.authorChan, TL
dc.contributor.authorChang-Claude, J
dc.contributor.authorChanock, SJ
dc.contributor.authorChoi, J-Y
dc.contributor.authorChristiansen, H
dc.contributor.authorClarke, CL
dc.contributor.authorCouch, FJ
dc.contributor.authorCzene, K
dc.contributor.authorDaly, MB
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorDwek, M
dc.contributor.authorEccles, DM
dc.contributor.authorEkici, AB
dc.contributor.authorEriksson, M
dc.contributor.authorEvans, DG
dc.contributor.authorFasching, PA
dc.contributor.authorFigueroa, J
dc.contributor.authorFlyger, H
dc.contributor.authorFritschi, L
dc.contributor.authorGabrielson, M
dc.contributor.authorGago-Dominguez, M
dc.contributor.authorGao, C
dc.contributor.authorGapstur, SM
dc.contributor.authorGarcía-Closas, M
dc.contributor.authorGarcía-Sáenz, JA
dc.contributor.authorGaudet, MM
dc.contributor.authorGiles, GG
dc.contributor.authorGoldberg, MS
dc.contributor.authorGoldgar, DE
dc.contributor.authorGuénel, P
dc.contributor.authorHaeberle, L
dc.contributor.authorHaiman, CA
dc.contributor.authorHåkansson, N
dc.contributor.authorHall, P
dc.contributor.authorHamann, U
dc.contributor.authorHartman, M
dc.contributor.authorHauke, J
dc.contributor.authorHein, A
dc.contributor.authorHillemanns, P
dc.contributor.authorHogervorst, FBL
dc.contributor.authorHooning, MJ
dc.contributor.authorHopper, JL
dc.contributor.authorHowell, T
dc.contributor.authorHuo, D
dc.contributor.authorIto, H
dc.contributor.authorIwasaki, M
dc.contributor.authorJakubowska, A
dc.contributor.authorJanni, W
dc.contributor.authorJohn, EM
dc.contributor.authorJung, A
dc.contributor.authorKaaks, R
dc.contributor.authorKang, D
dc.contributor.authorKapoor, PM
dc.contributor.authorKhusnutdinova, E
dc.contributor.authorKim, S-W
dc.contributor.authorKitahara, CM
dc.contributor.authorKoutros, S
dc.contributor.authorKraft, P
dc.contributor.authorKristensen, VN
dc.contributor.authorKwong, A
dc.contributor.authorLambrechts, D
dc.contributor.authorMarchand, LL
dc.contributor.authorLi, J
dc.contributor.authorLindström, S
dc.contributor.authorLinet, M
dc.contributor.authorLo, W-Y
dc.contributor.authorLong, J
dc.contributor.authorLophatananon, A
dc.contributor.authorLubiński, J
dc.contributor.authorManoochehri, M
dc.contributor.authorManoukian, S
dc.contributor.authorMargolin, S
dc.contributor.authorMartinez, E
dc.contributor.authorMatsuo, K
dc.contributor.authorMavroudis, D
dc.contributor.authorMeindl, A
dc.contributor.authorMenon, U
dc.contributor.authorMilne, RL
dc.contributor.authorMohd Taib, NA
dc.contributor.authorMuir, K
dc.contributor.authorMulligan, AM
dc.contributor.authorNeuhausen, SL
dc.contributor.authorNevanlinna, H
dc.contributor.authorNeven, P
dc.contributor.authorNewman, WG
dc.contributor.authorOffit, K
dc.contributor.authorOlopade, OI
dc.contributor.authorOlshan, AF
dc.contributor.authorOlson, JE
dc.contributor.authorOlsson, H
dc.contributor.authorPark, SK
dc.contributor.authorPark-Simon, T-W
dc.contributor.authorPeto, J
dc.contributor.authorPlaseska-Karanfilska, D
dc.contributor.authorPohl-Rescigno, E
dc.contributor.authorPresneau, N
dc.contributor.authorRack, B
dc.contributor.authorRadice, P
dc.contributor.authorRashid, MU
dc.contributor.authorRennert, G
dc.contributor.authorRennert, HS
dc.contributor.authorRomero, A
dc.contributor.authorRuebner, M
dc.contributor.authorSaloustros, E
dc.contributor.authorSchmidt, MK
dc.contributor.authorSchmutzler, RK
dc.contributor.authorSchneider, MO
dc.contributor.authorSchoemaker, MJ
dc.contributor.authorScott, C
dc.contributor.authorShen, C-Y
dc.contributor.authorShu, X-O
dc.contributor.authorSimard, J
dc.contributor.authorSlager, S
dc.contributor.authorSmichkoska, S
dc.contributor.authorSouthey, MC
dc.contributor.authorSpinelli, JJ
dc.contributor.authorStone, J
dc.contributor.authorSurowy, H
dc.contributor.authorSwerdlow, AJ
dc.contributor.authorTamimi, RM
dc.contributor.authorTapper, WJ
dc.contributor.authorTeo, SH
dc.contributor.authorTerry, MB
dc.contributor.authorToland, AE
dc.contributor.authorTollenaar, RAEM
dc.contributor.authorTorres, D
dc.contributor.authorTorres-Mejía, G
dc.contributor.authorTroester, MA
dc.contributor.authorTruong, T
dc.contributor.authorTsugane, S
dc.contributor.authorUntch, M
dc.contributor.authorVachon, CM
dc.contributor.authorOuweland, AMWVD
dc.contributor.authorVeen, EMV
dc.contributor.authorVijai, J
dc.contributor.authorWendt, C
dc.contributor.authorWolk, A
dc.contributor.authorYu, J-C
dc.contributor.authorZheng, W
dc.contributor.authorZiogas, A
dc.contributor.authorZiv, E
dc.contributor.authorABCTB Investigators
dc.contributor.authorNBCS Collaborators
dc.contributor.authorDunning, AM
dc.contributor.authorPharoah, PDP
dc.contributor.authorSchindler, D
dc.contributor.authorDevilee, P
dc.contributor.authorEaston, DF
dc.date.accessioned2019-11-01T10:41:10Z
dc.date.issued2019-08-29
dc.identifier.citationScientific reports, 2019, 9 (1), pp. 12524 - ?
dc.identifier.issn2045-2322
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3400
dc.identifier.eissn2045-2322
dc.identifier.doi10.1038/s41598-019-48804-y
dc.description.abstractFanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
dc.formatElectronic
dc.format.extent12524 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectABCTB Investigators
dc.subjectNBCS Collaborators
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectFanconi Anemia
dc.subjectGenetic Predisposition to Disease
dc.subjectBRCA1 Protein
dc.subjectBRCA2 Protein
dc.subjectCase-Control Studies
dc.subjectSequence Deletion
dc.subjectFemale
dc.subjectFanconi Anemia Complementation Group C Protein
dc.subjectGenetic Variation
dc.titleTwo truncating variants in FANCC and breast cancer risk.
dc.typeJournal Article
dcterms.dateAccepted2019-08-09
rioxxterms.versionofrecord10.1038/s41598-019-48804-y
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2019-08-29
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfScientific reports
pubs.issue1
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.volume9
pubs.embargo.termsNot known
icr.researchteamAetiological Epidemiologyen_US
dc.contributor.icrauthorSchoemaker, Minouken


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