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dc.contributor.authorSouthey, MC
dc.contributor.authorGoldgar, DE
dc.contributor.authorWinqvist, R
dc.contributor.authorPylkäs, K
dc.contributor.authorCouch, F
dc.contributor.authorTischkowitz, M
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dc.contributor.authorDennis, J
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dc.contributor.authorSchmidt, MK
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dc.contributor.authorFasching, PA
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dc.contributor.authorEkici, AB
dc.contributor.authorBeckmann, MW
dc.contributor.authorPeto, J
dc.contributor.authorDos-Santos-Silva, I
dc.contributor.authorFletcher, O
dc.contributor.authorJohnson, N
dc.contributor.authorBolla, MK
dc.contributor.authorSawyer, EJ
dc.contributor.authorTomlinson, I
dc.contributor.authorKerin, MJ
dc.contributor.authorMiller, N
dc.contributor.authorMarme, F
dc.contributor.authorBurwinkel, B
dc.contributor.authorYang, R
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dc.contributor.authorTruong, T
dc.contributor.authorMenegaux, F
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dc.contributor.authorBojesen, S
dc.contributor.authorNielsen, SF
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dc.contributor.authorZamora, MP
dc.contributor.authorPerez, JIA
dc.contributor.authorMenéndez, P
dc.contributor.authorAnton-Culver, H
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dc.contributor.authorBrenner, H
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dc.contributor.authorStegmaier, C
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dc.contributor.authorBrüning, T
dc.contributor.authorKo, Y-D
dc.contributor.authorMuranen, TA
dc.contributor.authorAittomäki, K
dc.contributor.authorBlomqvist, C
dc.contributor.authorBogdanova, NV
dc.contributor.authorAntonenkova, NN
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dc.contributor.authorMargolin, S
dc.contributor.authorMannermaa, A
dc.contributor.authorKataja, V
dc.contributor.authorKosma, V-M
dc.contributor.authorHartikainen, JM
dc.contributor.authorSpurdle, AB
dc.contributor.authorInvestigators, K
dc.contributor.authorAustralian Ovarian Cancer Study Group
dc.contributor.authorWauters, E
dc.contributor.authorSmeets, D
dc.contributor.authorBeuselinck, B
dc.contributor.authorFloris, G
dc.contributor.authorChang-Claude, J
dc.contributor.authorRudolph, A
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dc.contributor.authorFlesch-Janys, D
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dc.contributor.authorVachon, C
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dc.contributor.authorMcLean, C
dc.contributor.authorHaiman, CA
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dc.contributor.authorSchumacher, F
dc.contributor.authorLe Marchand, L
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dc.contributor.authorAlnæs, GG
dc.contributor.authorZheng, W
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dc.contributor.authorLindstrom, S
dc.contributor.authorHankinson, SE
dc.contributor.authorKraft, P
dc.contributor.authorAndrulis, I
dc.contributor.authorKnight, JA
dc.contributor.authorGlendon, G
dc.contributor.authorMulligan, AM
dc.contributor.authorJukkola-Vuorinen, A
dc.contributor.authorGrip, M
dc.contributor.authorKauppila, S
dc.contributor.authorDevilee, P
dc.contributor.authorTollenaar, RAEM
dc.contributor.authorSeynaeve, C
dc.contributor.authorHollestelle, A
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dc.contributor.authorHooning, MJ
dc.contributor.authorMartens, JWM
dc.contributor.authorCollée, JM
dc.contributor.authorTilanus-Linthorst, M
dc.contributor.authorHall, P
dc.contributor.authorLi, J
dc.contributor.authorBrand, JS
dc.contributor.authorHumphreys, K
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dc.contributor.authorLuccarini, C
dc.contributor.authorBaynes, C
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dc.contributor.authorJaworska, K
dc.contributor.authorDurda, K
dc.contributor.authorSlager, S
dc.contributor.authorToland, AE
dc.contributor.authorAmbrosone, CB
dc.contributor.authorYannoukakos, D
dc.contributor.authorSwerdlow, A
dc.contributor.authorAshworth, A
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dc.contributor.authorJones, M
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dc.contributor.authorWeischer, M
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dc.contributor.authorNeal, D
dc.contributor.authorDonovan, JL
dc.contributor.authorHamdy, FC
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dc.contributor.authorButterbach, K
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dc.contributor.authorKote-Jarai, Z
dc.contributor.authorOlama, AAA
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dc.contributor.authorHartmann, A
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dc.contributor.authorRuebner, M
dc.contributor.authorLambrechts, D
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dc.contributor.authorRossing, MA
dc.contributor.authorNickels, S
dc.contributor.authorEilber, U
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dc.contributor.authorOdunsi, K
dc.contributor.authorSucheston-Campbell, LE
dc.contributor.authorFriel, G
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dc.contributor.authorWilkens, LR
dc.contributor.authorGoodman, MT
dc.contributor.authorRunnebaum, I
dc.contributor.authorHillemanns, PA
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dc.contributor.authordu Bois, A
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dc.contributor.authorKarlan, BY
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dc.contributor.authorWu, X
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dc.contributor.authorMassuger, LFAG
dc.contributor.authorPejovic, T
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dc.contributor.authorBrooks-Wilson, A
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dc.contributor.authorCook, LS
dc.contributor.authorLe, ND
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dc.contributor.authorGronwald, J
dc.contributor.authorMenkiszak, J
dc.contributor.authorHøgdall, CK
dc.contributor.authorLundvall, L
dc.contributor.authorNedergaard, L
dc.contributor.authorEngelholm, SA
dc.contributor.authorDicks, E
dc.contributor.authorTyrer, J
dc.contributor.authorCampbell, I
dc.contributor.authorMcNeish, I
dc.contributor.authorPaul, J
dc.contributor.authorSiddiqui, N
dc.contributor.authorGlasspool, R
dc.contributor.authorWhittemore, AS
dc.contributor.authorRothstein, JH
dc.contributor.authorMcGuire, V
dc.contributor.authorSieh, W
dc.contributor.authorCai, H
dc.contributor.authorShu, X-O
dc.contributor.authorTeten, RT
dc.contributor.authorSutphen, R
dc.contributor.authorMcLaughlin, JR
dc.contributor.authorNarod, SA
dc.contributor.authorPhelan, CM
dc.contributor.authorMonteiro, AN
dc.contributor.authorFenstermacher, D
dc.contributor.authorLin, H-Y
dc.contributor.authorPermuth, JB
dc.contributor.authorSellers, TA
dc.contributor.authorChen, YA
dc.contributor.authorTsai, Y-Y
dc.contributor.authorChen, Z
dc.contributor.authorGentry-Maharaj, A
dc.contributor.authorGayther, SA
dc.contributor.authorRamus, SJ
dc.contributor.authorMenon, U
dc.contributor.authorWu, AH
dc.contributor.authorPearce, CL
dc.contributor.authorVan Den Berg, D
dc.contributor.authorPike, MC
dc.contributor.authorDansonka-Mieszkowska, A
dc.contributor.authorPlisiecka-Halasa, J
dc.contributor.authorMoes-Sosnowska, J
dc.contributor.authorKupryjanczyk, J
dc.contributor.authorPharoah, PD
dc.contributor.authorSong, H
dc.contributor.authorWinship, I
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorGiles, GG
dc.contributor.authorTavtigian, SV
dc.contributor.authorEaston, DF
dc.contributor.authorMilne, RL
dc.date.accessioned2016-09-14T14:29:00Z
dc.date.issued2016-12
dc.identifier.citationJournal of medical genetics, 2016, 53 (12), pp. 800 - 811
dc.identifier.issn0022-2593
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/112
dc.identifier.eissn1468-6244
dc.identifier.doi10.1136/jmedgenet-2016-103839
dc.description.abstractBackground The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant.Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10 -5 ), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10 -8 ) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants.Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
dc.formatPrint-Electronic
dc.format.extent800 - 811
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectAustralian Ovarian Cancer Study Group
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectOvarian Neoplasms
dc.subjectProstatic Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectTumor Suppressor Proteins
dc.subjectNuclear Proteins
dc.subjectRisk
dc.subjectCase-Control Studies
dc.subjectMutation
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Association Studies
dc.subjectAtaxia Telangiectasia Mutated Proteins
dc.subjectCheckpoint Kinase 2
dc.subjectFanconi Anemia Complementation Group N Protein
dc.titlePALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
dc.typeJournal Article
dcterms.dateAccepted2016-06-21
rioxxterms.versionofrecord10.1136/jmedgenet-2016-103839
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2016-12
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfJournal of medical genetics
pubs.issue12
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/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic 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/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
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/Breast Cancer Research/Complex Trait Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic 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/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.publication-statusPublished
pubs.volume53
pubs.embargo.termsNo embargo
pubs.oa-locationhttp://www.ncbi.nlm.nih.gov/pubmed/27595995
icr.researchteamComplex Trait Geneticsen_US
icr.researchteamFunctional Genetic Epidemiologyen_US
icr.researchteamAetiological Epidemiologyen_US
icr.researchteamOncogeneticsen_US
dc.contributor.icrauthorFletcher, Oliviaen
dc.contributor.icrauthorSwerdlow, Anthonyen
dc.contributor.icrauthorOrr, Nicholasen
dc.contributor.icrauthorJones, Michaelen
dc.contributor.icrauthorEeles, Rosalinden
dc.contributor.icrauthorKote-Jarai, Zsofiaen


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