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dc.contributor.authorSouthey, MC
dc.contributor.authorGoldgar, DE
dc.contributor.authorWinqvist, R
dc.contributor.authorPylkas, K
dc.contributor.authorCouch, F
dc.contributor.authorTischkowitz, M
dc.contributor.authorFoulkes, WD
dc.contributor.authorDennis, J
dc.contributor.authorMichailidou, K
dc.contributor.authorvan Rensburg, EJ
dc.contributor.authorHeikkinen, T
dc.contributor.authorNevanlinna, H
dc.contributor.authorHopper, JL
dc.contributor.authorDoerk, T
dc.contributor.authorClaes, KBM
dc.contributor.authorReis-Filho, J
dc.contributor.authorTeo, ZL
dc.contributor.authorRadice, P
dc.contributor.authorCatucci, I
dc.contributor.authorPeterlongo, P
dc.contributor.authorTsimiklis, H
dc.contributor.authorOdefrey, FA
dc.contributor.authorDowty, JG
dc.contributor.authorSchmidt, MK
dc.contributor.authorBroeks, A
dc.contributor.authorHogervorst, FB
dc.contributor.authorVerhoef, S
dc.contributor.authorCarpenter, J
dc.contributor.authorClarke, C
dc.contributor.authorScott, RJ
dc.contributor.authorFasching, PA
dc.contributor.authorHaeberle, L
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
dc.contributor.authorGuenel, P
dc.contributor.authorTherese, T
dc.contributor.authorMenegaux, F
dc.contributor.authorSanchez, M
dc.contributor.authorBojesen, S
dc.contributor.authorNielsen, SF
dc.contributor.authorFlyger, H
dc.contributor.authorBenitez, J
dc.contributor.authorPilar Zamora, M
dc.contributor.authorArias Perez, JI
dc.contributor.authorMenendez, P
dc.contributor.authorAnton-Culver, H
dc.contributor.authorNeuhausen, S
dc.contributor.authorZiogas, A
dc.contributor.authorClarke, CA
dc.contributor.authorBrenner, H
dc.contributor.authorArndt, V
dc.contributor.authorStegmaier, C
dc.contributor.authorBrauch, H
dc.contributor.authorBruening, T
dc.contributor.authorKo, Y-D
dc.contributor.authorMuranen, TA
dc.contributor.authorAittomaki, K
dc.contributor.authorBlomqvist, C
dc.contributor.authorBogdanova, NV
dc.contributor.authorAntonenkova, NN
dc.contributor.authorLindblom, A
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.authorWauters, E
dc.contributor.authorSmeets, D
dc.contributor.authorBeuselinck, B
dc.contributor.authorFloris, G
dc.contributor.authorChang-Claude, J
dc.contributor.authorRudolph, A
dc.contributor.authorSeibold, P
dc.contributor.authorFlesch-Janys, D
dc.contributor.authorOlson, JE
dc.contributor.authorVachon, C
dc.contributor.authorPankratz, VS
dc.contributor.authorMcLean, C
dc.contributor.authorHaiman, CA
dc.contributor.authorHenderson, BE
dc.contributor.authorSchumacher, F
dc.contributor.authorLe Marchand, L
dc.contributor.authorKristensen, V
dc.contributor.authorAlnaes, GG
dc.contributor.authorZheng, W
dc.contributor.authorHunter, DJ
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
dc.contributor.authorGarcia-Closas, M
dc.contributor.authorFigueroa, J
dc.contributor.authorChanock, SJ
dc.contributor.authorLissowska, J
dc.contributor.authorCzene, K
dc.contributor.authorDarabi, H
dc.contributor.authorEriksson, M
dc.contributor.authorEccles, DM
dc.contributor.authorRafiq, S
dc.contributor.authorTapper, WJ
dc.contributor.authorGerty, SM
dc.contributor.authorHooning, MJ
dc.contributor.authorMartens, JWM
dc.contributor.authorCollee, JM
dc.contributor.authorTilanus-Linthorst, M
dc.contributor.authorHall, P
dc.contributor.authorLi, J
dc.contributor.authorBrand, JS
dc.contributor.authorHumphreys, K
dc.contributor.authorCox, A
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dc.contributor.authorLuccarini, C
dc.contributor.authorBaynes, C
dc.contributor.authorDunning, AM
dc.contributor.authorHamann, U
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dc.contributor.authorUlmer, HU
dc.contributor.authorRuediger, T
dc.contributor.authorJakubowska, A
dc.contributor.authorLubinski, J
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.authorRosario Alonso, M
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dc.contributor.authorSchleutker, J
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dc.contributor.authorNeal, D
dc.contributor.authorDonovan, JL
dc.contributor.authorHamdy, FC
dc.contributor.authorKhaw, K-T
dc.contributor.authorStanford, JL
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dc.contributor.authorMaier, C
dc.contributor.authorKibel, AS
dc.contributor.authorCybulski, C
dc.contributor.authorCannon-Albright, L
dc.contributor.authorButterbach, K
dc.contributor.authorPark, J
dc.contributor.authorKaneva, R
dc.contributor.authorBatra, J
dc.contributor.authorTeixeira, MR
dc.contributor.authorKote-Jarai, Z
dc.contributor.authorAl Olama, AA
dc.contributor.authorBenlloch, S
dc.contributor.authorRenner, SP
dc.contributor.authorHartmann, A
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dc.contributor.authorRuebner, M
dc.contributor.authorLambrechts, D
dc.contributor.authorVan Nieuwenhuysen, E
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dc.contributor.authorLambretchs, S
dc.contributor.authorDoherty, JA
dc.contributor.authorRossing, MA
dc.contributor.authorNickels, S
dc.contributor.authorEilber, U
dc.contributor.authorWang-Gohrke, S
dc.contributor.authorOdunsi, K
dc.contributor.authorSucheston-Campbell, LE
dc.contributor.authorFriel, G
dc.contributor.authorLurie, G
dc.contributor.authorKilleen, JL
dc.contributor.authorWilkens, LR
dc.contributor.authorGoodman, MT
dc.contributor.authorRunnebaum, I
dc.contributor.authorHillemanns, PA
dc.contributor.authorPelttari, LM
dc.contributor.authorButzow, R
dc.contributor.authorModugno, F
dc.contributor.authorEdwards, RP
dc.contributor.authorNess, RB
dc.contributor.authorMoysich, KB
dc.contributor.authordu Bois, A
dc.contributor.authorHeitz, F
dc.contributor.authorHarter, P
dc.contributor.authorKommoss, S
dc.contributor.authorKarlan, BY
dc.contributor.authorWalsh, C
dc.contributor.authorLester, J
dc.contributor.authorJensen, A
dc.contributor.authorKjaer, SK
dc.contributor.authorHogdall, E
dc.contributor.authorPeissel, B
dc.contributor.authorBonanni, B
dc.contributor.authorBernard, L
dc.contributor.authorGoode, EL
dc.contributor.authorFridley, BL
dc.contributor.authorVierkant, RA
dc.contributor.authorCunningham, JM
dc.contributor.authorLarson, MC
dc.contributor.authorFogarty, ZC
dc.contributor.authorKalli, KR
dc.contributor.authorLiang, D
dc.contributor.authorLu, KH
dc.contributor.authorHildebrandt, MAT
dc.contributor.authorWu, X
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dc.contributor.authorDao, F
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dc.contributor.authorMarks, JR
dc.contributor.authorAkushevich, L
dc.contributor.authorCramer, DW
dc.contributor.authorSchildkraut, J
dc.contributor.authorTerry, KL
dc.contributor.authorPoole, EM
dc.contributor.authorStampfer, M
dc.contributor.authorTworoger, SS
dc.contributor.authorBandera, EV
dc.contributor.authorOrlow, I
dc.contributor.authorOlson, SH
dc.contributor.authorBjorge, L
dc.contributor.authorSalvesen, HB
dc.contributor.authorvan Altena, AM
dc.contributor.authorAben, KKH
dc.contributor.authorKiemeney, LA
dc.contributor.authorMassuger, LFAG
dc.contributor.authorPejovic, T
dc.contributor.authorBean, Y
dc.contributor.authorBrooks-Wilson, A
dc.contributor.authorKelemen, LE
dc.contributor.authorCook, LS
dc.contributor.authorLe, ND
dc.contributor.authorGrski, B
dc.contributor.authorGronwald, J
dc.contributor.authorMenkiszak, J
dc.contributor.authorHogdall, 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, PDP
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.accessioned2021-02-05T00:49:40Z
dc.date.available2021-02-05T00:49:40Z
dc.date.issued2016-12-01
dc.identifierpii: jmedgenet-2016-103839
dc.identifier.citationSouthey, M. C., Goldgar, D. E., Winqvist, R., Pylkas, K., Couch, F., Tischkowitz, M., Foulkes, W. D., Dennis, J., Michailidou, K., van Rensburg, E. J., Heikkinen, T., Nevanlinna, H., Hopper, J. L., Doerk, T., Claes, K. B. M., Reis-Filho, J., Teo, Z. L., Radice, P., Catucci, I. ,... Milne, R. L. (2016). PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. JOURNAL OF MEDICAL GENETICS, 53 (12), pp.800-811. https://doi.org/10.1136/jmedgenet-2016-103839.
dc.identifier.issn0022-2593
dc.identifier.urihttp://hdl.handle.net/11343/260167
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.languageEnglish
dc.publisherBMJ PUBLISHING GROUP
dc.titlePALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
dc.typeJournal Article
dc.identifier.doi10.1136/jmedgenet-2016-103839
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.affiliation.departmentSir Peter MacCallum Department of Oncology
melbourne.affiliation.departmentMedicine and Radiology
melbourne.affiliation.departmentClinical Pathology
melbourne.affiliation.departmentFlorey Department of Neuroscience and Mental Health
melbourne.affiliation.department
melbourne.affiliation.facultyCollected Works
melbourne.source.titleJournal of Medical Genetics
melbourne.source.volume53
melbourne.source.issue12
melbourne.source.pages800-811
melbourne.identifier.nhmrc1029974
melbourne.identifier.nhmrc1061177
dc.rights.licenseCC BY
melbourne.elementsid1094995
melbourne.contributor.authorHopper, John
melbourne.contributor.authorCampbell, Ian
melbourne.contributor.authorMilne, Roger
melbourne.contributor.authorWinship, Ingrid
melbourne.contributor.authorSouthey, Melissa
melbourne.contributor.authorTsimiklis, Helen
melbourne.contributor.authorDowty, James
melbourne.contributor.authorTeo, Zhi Ling
melbourne.contributor.authorGiles, Graham
melbourne.contributor.authorMcLean, Catriona
melbourne.contributor.authorODEFREY, FABRICE
melbourne.contributor.authorBaglietto, Laura
dc.identifier.eissn1468-6244
melbourne.identifier.fundernameidNHMRC, 1029974
melbourne.identifier.fundernameidNHMRC, 1061177
melbourne.identifier.fundernameidNATIONAL INSTITUTE OF HEALTH, 5 U01 CA69638
melbourne.accessrightsOpen Access


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