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PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.creatorSouthey, Melissa C.
dc.creatorGoldgar, David E.
dc.creatorWinqvist, Robert
dc.creatorPylkas, Katri
dc.creatorCouch, Fergus
dc.creatorTischkowitz, Marc
dc.creatorFoulkes, William D.
dc.creatorDennis, Joe
dc.creatorMichailidou, Kyriaki
dc.creatorvan Rensburg, Elizabeth J.
dc.creatorHeikkinen, Tuomas
dc.creatorNevanlinna, Heli
dc.creatorHopper, John L.
dc.creatorDoerk, Thilo
dc.creatorClaes, Kathleen B. M.
dc.creatorReis Filho, Jorge
dc.creatorTeo, Zhi Ling
dc.creatorRadice, Paolo
dc.creatorCatucci, Irene
dc.creatorPeterlongo, Paolo
dc.creatorTsimiklis, Helen
dc.creatorOdefrey, Fabrice A.
dc.creatorDowty, James G.
dc.creatorSchmidt, Marjanka K.
dc.creatorBroeks, Annegien
dc.creatorHogervorst, Frans B.
dc.creatorVerhoef, Senno
dc.creatorCarpenter, Jane
dc.creatorClarke, Christine
dc.creatorScott, Rodney J.
dc.creatorFasching, Peter A.
dc.creatorHaeberle, Lothar
dc.creatorEkici, Arif B.
dc.creatorBeckmann, Matthias W.
dc.creatorPeto, Julian
dc.creatordos Santos Silva, Isabel
dc.creatorFletcher, Olivia
dc.creatorJohnson, Nichola
dc.creatorBolla, Manjeet K.
dc.creatorSawyer, Elinor J.
dc.creatorTomlinson, Ian
dc.creatorKerin, Michael J.
dc.creatorMiller, Nicola
dc.creatorMarme, Federik
dc.creatorBurwinkel, Barbara
dc.creatorYang, Rongxi
dc.creatorGuenel, Pascal
dc.creatorTherese Truong
dc.creatorSanchez, Marie
dc.creatorBojesen, Stig
dc.creatorNielsen, Sune F.
dc.creatorFlyger, Henrik
dc.creatorBenitez, Javier
dc.creatorPilar Zamora, M.
dc.creatorArias Perez, Jose Ignacio
dc.creatorMenendez, Primitiva
dc.creatorAnton Culver, Hoda
dc.creatorNeuhausen, Susan
dc.creatorZiogas, Argyrios
dc.creatorClarke, Christina A.
dc.creatorBrenner, Hermann
dc.creatorArndt, Volker
dc.creatorStegmaier, Christa
dc.creatorBrauch, Hiltrud
dc.creatorBruening, Thomas
dc.creatorKo, Yon Dschun
dc.creatorMuranen, Taru A.
dc.creatorAittomaki, Kristiina
dc.creatorBlomqvist, Carl
dc.creatorBogdanova, Natalia V.
dc.creatorAntonenkova, Natalia N.
dc.creatorLindblom, Annika
dc.creatorMargolin, Sara
dc.creatorMannermaa, Arto
dc.creatorKataja, Vesa
dc.creatorKosma, Veli Matti
dc.creatorHartikainen, Jaana M.
dc.creatorSpurdle, Amanda B.
dc.creatorWauters, Els
dc.creatorSmeets, Dominiek
dc.creatorBeuselinck, Benoit
dc.creatorFloris, Giuseppe
dc.creatorChang-Claude, Jenny
dc.creatorRudolph, Anja
dc.creatorSeibold, Petra
dc.creatorFlesch Janys, Dieter
dc.creatorOlson, Janet E.
dc.creatorVachon, Celine
dc.creatorPankratz, Vernon S.
dc.creatorMcLean, Catriona
dc.creatorHaiman, Christopher A.
dc.creatorHenderson, Brian E.
dc.creatorSchumacher, Fredrick
dc.creatorLe Marchand, Loic
dc.creatorKristensen, Vessela
dc.creatorAlnaes, Grethe Grenaker
dc.creatorZheng, Wei
dc.creatorHunter, David J.
dc.creatorLindstrom, Sara
dc.creatorHankinson, Susan E.
dc.creatorKraft, Peter
dc.creatorAndrulis, Irene
dc.creatorKnight, Julia A.
dc.creatorGlendon, Gord
dc.creatorMulligan, Anna Marie
dc.creatorJukkola Vuorinen, Arja
dc.creatorGrip, Mervi
dc.creatorKauppila, Saila
dc.creatorDevilee, Peter
dc.creatorTollenaar, Robert A. E. M.
dc.creatorSeynaeve, Caroline
dc.creatorHollestelle, Antoinette
dc.creatorGarcia Closas, Montserrat
dc.creatorFigueroa, Jonine
dc.creatorChanock, Stephen J.
dc.creatorLissowska, Jolanta
dc.creatorCzene, Kamila
dc.creatorDarabi, Hatef
dc.creatorEriksson, Mikael
dc.creatorEccles, Diana M.
dc.creatorRafiq, Sajjad
dc.creatorTapper, William J.
dc.creatorGerty, Sue M.
dc.creatorHooning, Maartje J.
dc.creatorMartens, John W. M.
dc.creatorCollee, J. Margriet
dc.creatorTilanus-Linthorst, Madeleine
dc.creatorHall, Per
dc.creatorLi, Jingmei
dc.creatorBrand, Judith S.
dc.creatorHumphreys, Keith
dc.creatorCox, Angela
dc.creatorReed, Malcolm W. R.
dc.creatorLuccarini, Craig
dc.creatorBaynes, Caroline
dc.creatorDunning, Alison M.
dc.creatorHamann, Ute
dc.creatorTorres López, Diana María
dc.creatorUlmer, Hans Ulrich
dc.creatorRuediger, Thomas
dc.creatorJakubowska, Anna
dc.creatorLubinski, Jan
dc.creatorJaworska, Katarzyna
dc.creatorDurda, Katarzyna
dc.creatorSlager, Susan
dc.creatorToland, Amanda E.
dc.creatorAmbrosone, Christine B.
dc.creatorYannoukakos, Drakoulis
dc.creatorSwerdlow, Anthony
dc.creatorAshworth, Alan
dc.creatorOrr, Nick
dc.creatorJones, Michael
dc.creatorGonzalez Neira, Anna
dc.creatorPita, Guillermo
dc.creatorRosario Alonso, M.
dc.creatorAlvarez, Nuria
dc.creatorHerrero, Daniel
dc.creatorTessier, Daniel C.
dc.creatorVincent, Daniel
dc.creatorBacot, Francois
dc.creatorSimard, Jacques
dc.creatorDumont, Martine
dc.creatorSoucy, Penny
dc.creatorEeles, Rosalind
dc.creatorMuir, Kenneth
dc.creatorWiklund, Fredrik
dc.creatorGronberg, Henrik
dc.creatorSchleutker, Johanna
dc.creatorNordestgaard, Borge G.
dc.creatorWeischer, Maren
dc.creatorTravis, Ruth C.
dc.creatorNeal, David
dc.creatorDonovan, Jenny L.
dc.creatorHamdy, Freddie C.
dc.creatorKhaw, Kay Tee
dc.creatorStanford, Janet L.
dc.creatorBlot, William J.
dc.creatorThibodeau, Stephen
dc.creatorSchaid, Daniel J.
dc.creatorKelley, Joseph L.
dc.creatorMaier, Christiane
dc.creatorKibel, Adam S.
dc.creatorCybulski, Cezary
dc.creatorCannon Albright, Lisa
dc.creatorButterbach, Katja
dc.creatorPark, Jong
dc.creatorKaneva, Radka
dc.creatorBatra, Jyotsna
dc.creatorTeixeira, Manuel R.
dc.creatorKote-Jarai, Zsofia
dc.creatorAl Olama, Ali Amin
dc.creatorBenlloch, Sara
dc.creatorBenlloch, Sara
dc.creatorRenner, Stefan P.
dc.creatorHartmann, Arndt
dc.creatorHein, Alexander
dc.creatorRuebner, Matthias
dc.creatorLambrechts, Diether
dc.creatorVan Nieuwenhuysen, Els
dc.creatorVergote, Ignace
dc.creatorLambretchs, Sandrina
dc.creatorDoherty, Jennifer A.
dc.creatorRossing, Mary Anne
dc.creatorNickels, Stefan
dc.creatorEilber, Ursula
dc.creatorWang Gohrke, Shan
dc.creatorOdunsi, Kunle
dc.creatorSucheston Campbell, Lara E.
dc.creatorFriel, Grace
dc.creatorLurie, Galina
dc.creatorKilleen, Jeffrey L.
dc.creatorWilkens, Lynne R.
dc.creatorGoodman, Marc T.
dc.creatorRunnebaum, Ingo
dc.creatorHillemanns, Peter A.
dc.creatorPelttari, Liisa M.
dc.creatorButzow, Ralf
dc.creatorModugno, Francesmary
dc.creatorEdwards, Robert P.
dc.creatorNess, Roberta B.
dc.creatorMoysich, Kirsten B.
dc.creatordu Bois, Andreas
dc.creatorHeitz, Florian
dc.creatorHarter, Philipp
dc.creatorKommoss, Stefan
dc.creatorKarlan, Beth Y.
dc.creatorWalsh, Christine
dc.creatorLester, Jenny
dc.creatorJensen, Allan
dc.creatorKjaer, Susanne Kruger
dc.creatorHogdall, Estrid
dc.creatorPeissel, Bernard
dc.creatorBonanni, Bernardo
dc.creatorBernard, Loris
dc.creatorGoode, Ellen L.
dc.creatorGoode, Ellen L.
dc.creatorFridley, Brooke L.
dc.creatorVierkant, Robert A.
dc.creatorCunningham, Julie M.
dc.creatorLarson, Melissa C.
dc.creatorFogarty, Zachary C.
dc.creatorKalli, Kimberly R.
dc.creatorLiang, Dong
dc.creatorLu, Karen H.
dc.creatorHildebrandt, Michelle A. T.
dc.creatorWu, Xifeng
dc.creatorLevine, Douglas A.
dc.creatorDao, Fanny
dc.creatorBisogna, Maria
dc.creatorBerchuck, Andrew
dc.creatorIversen, Edwin S.
dc.creatorMarks, Jeffrey R.
dc.creatorAkushevich, Lucy
dc.creatorCramer, Daniel W.
dc.creatorSchildkraut, Joellen
dc.creatorTerry, Kathryn L.
dc.creatorPoole, Elizabeth M.
dc.creatorStampfer, Meir
dc.creatorTworoger, Shelley S.
dc.creatorBandera, Elisa V.
dc.creatorOrlow, Irene
dc.creatorOlson, Sara H.
dc.creatorBjorge, Line
dc.creatorSalvesen, Helga B.
dc.creatorvan Altena, Anne M.
dc.creatorAben, Katja K. H.
dc.creatorKiemeney, Lambertus A.
dc.creatorMassuger, Leon F. A. G.
dc.creatorPejovic, Tanja
dc.creatorBean, Yukie
dc.creatorBrooks Wilson, Angela
dc.creatorKelemen, Linda E.
dc.creatorCook, Linda S.
dc.creatorLe, Nhu D.
dc.creatorGrski, Bohdan
dc.creatorGronwald, Jacek
dc.creatorMenkiszak, Janusz
dc.creatorHogdall, Claus K.
dc.creatorLundvall, Lene
dc.creatorNedergaard, Lotte
dc.creatorEngelholm, Svend Aage
dc.creatorDicks, Ed
dc.creatorTyrer, Jonathan
dc.creatorCampbell, Ian
dc.creatorMcNeish, Iain
dc.creatorPaul, James
dc.creatorSiddiqui, Nadeem
dc.creatorGlasspool, Rosalind
dc.creatorWhittemore, Alice S.
dc.creatorRothstein, Joseph H.
dc.creatorMcGuire, Valerie
dc.creatorSieh, Weiva
dc.creatorCai, Hui
dc.creatorShu, Xiao-Ou
dc.creatorTeten, Rachel T.
dc.creatorSutphen, Rebecca
dc.creatorMcLaughlin, John R.
dc.creatorNarod, Steven A.
dc.creatorPhelan, Catherine M.
dc.creatorMonteiro, Alvaro N.
dc.creatorFenstermacher, David
dc.creatorLin, Hui Yi
dc.creatorPermuth, Jennifer B.
dc.creatorSellers, Thomas A.
dc.creatorChen, Y. Ann
dc.creatorTsai, Ya Yu
dc.creatorChen, Zhihua
dc.creatorGentry Maharaj, Aleksandra
dc.creatorGayther, Simon A.
dc.creatorRamus, Susan J.
dc.creatorMenon, Usha
dc.creatorWu, Anna H.
dc.creatorPearce, Celeste L.
dc.creatorVan den Berg, David
dc.creatorPike, Malcolm C.
dc.creatorDansonka Mieszkowska, Agnieszka
dc.creatorPlisiecka Halasa, Joanna
dc.creatorMoes Sosnowska, Joanna
dc.creatorKupryjanczyk, Jolanta
dc.creatorPharoah, Paul D. P.
dc.creatorSong, Honglin
dc.creatorWinship, Ingrid
dc.creatorChenevix Trench, Georgia
dc.creatorGiles, Graham G.
dc.creatorTavtigian, Sean V.
dc.creatorEaston, Doug F.
dc.creatorMilne, Roger L.
dc.creatorMenegaux, Florence
dc.date2020-03-13T11:56:20Z
dc.date2020-04-15T13:33:08Z
dc.date2020-03-13T11:56:20Z
dc.date2020-04-15T13:33:08Z
dc.date2016-11-23
dc.date.accessioned2025-10-30T13:49:03Z
dc.date.available2025-10-30T13:49:03Z
dc.identifierhttps://jmg.bmj.com/content/53/12/800.info
dc.identifier0022-2593 / 1468-6244 (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/47626
dc.identifierhttps://doi.org/10.1136/jmedgenet-2016-103839
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/188624
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionArtículo original
dc.description800-811
dc.descriptionBackground 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=7.1x10-5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9x10-8) 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.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languagespa
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceJournal of Medical Genetics; Vol. 53 Núm. 12 (2016)
dc.subjectBRCA2 interacting protein
dc.subjectSusceptibility loci
dc.subjectBREAST
dc.subjectMutations
dc.subjectGene
dc.subjectBRCA1
dc.titlePALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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