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Two truncating variants in FANCC and breast cancer risk

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributorTorres-López, Diana María
dc.creatorDörk, Thilo
dc.creatorMannermaa, Arto
dc.creatorBolla, Manjeet
dc.creatorWang, Qin
dc.creatorDennis, Joe
dc.creatorAhearn, Thomas
dc.creatorAndrulis, Irene
dc.creatorCulver, Hoda Anton
dc.creatorArndt, Volker
dc.creatorAronson, Kristan J
dc.creatorAugustinsson, Annelie
dc.creatorBeane Freeman, Laura E.
dc.creatorBeckmann, Matthias
dc.creatorBeeghly Fadiel, Alicia
dc.creatorBehrens, Sabine
dc.creatorBermisheva, Marina
dc.creatorBlomqvist, Carl
dc.creatorBogdanova, Natalia
dc.creatorBojesen, Stig
dc.creatorBrauch, Hiltrud
dc.creatorBrenner, Hermann
dc.creatorBurwinkel, Barbara
dc.creatorCanzian, Federico
dc.creatorChan, Tsun
dc.creatorClaude, Jenny Chang
dc.creatorChanock, Stephen
dc.creatorChoi, Ji-Yeob
dc.creatorChristiansen, Hans
dc.creatorClarke, Christine
dc.creatorCouch, Fergus
dc.creatorCzene, Kamila
dc.creatorDaly, Mary
dc.creatordos Santos Silva, Isabel
dc.creatorDwek, Miriam
dc.creatorEccles, Diana
dc.creatorEkici, Arif
dc.creatorEriksson, Mikael
dc.creatorEvans, D. Gareth
dc.creatorFasching, Peter
dc.creatorFigueroa, Jonine
dc.creatorFlyger, Henrik
dc.creatorFritschi, Lin
dc.creatorGabrielson, Marike
dc.creatorGago Dominguez, Manuela
dc.creatorGao, Chi
dc.creatorGapstur, Susan
dc.creatorGarcía Closas, Montserrat
dc.creatorGarcía Sáenz, José Angel
dc.creatorGaudet, Mia M.
dc.creatorGiles, Graham
dc.creatorGoldberg, Mark
dc.creatorGoldgar, David
dc.creatorGuénel, Pascal
dc.creatorHaeberle, Lothar
dc.creatorHaiman, Christopher
dc.creatorHåkansson, Niclas
dc.creatorHall, Per
dc.creatorHamann, Ute
dc.creatorHartman, Mikael
dc.creatorHauke, Jan
dc.creatorHein, Alexander
dc.creatorHillemanns, Peter
dc.creatorHogervorst, Frans
dc.creatorHooning, Maartje
dc.creatorHopper, John
dc.creatorHowell, Tony
dc.creatorHuo, Dezheng
dc.creatorIto, Hidemi
dc.creatorIwasaki, Motoki
dc.creatorJakubowska, Anna
dc.creatorJanni, Wolfgang
dc.creatorJohn, Esther
dc.creatorJung, Audrey
dc.creatorKaaks, Rudolf
dc.creatorKang, Daehee
dc.creatorMiddha Kapoor, Pooja
dc.creatorKhusnutdinova, Elza
dc.creatorWon Kim, Sung
dc.creatorKitahara, Cari
dc.creatorKoutros, Stella
dc.creatorKraft, Peter
dc.creatorKristensen, Vessela
dc.creatorKwong, Ava
dc.creatorLambrechts, Diether
dc.creatorMarchand, Loic Le
dc.creatorLi, Jingmei
dc.creatorLindström, Sara
dc.creatorLinet, Martha
dc.creatorYee Lo, Wing
dc.creatorLong, Jirong
dc.creatorLophatananon, Artitaya
dc.creatorLubiński, Jan
dc.creatorManoochehri, Mehdi
dc.creatorManoukian, Siranoush
dc.creatorMargolin, Sara
dc.creatorMartinez, Elena
dc.creatorMatsuo, Keitaro
dc.creatorMavroudis, Dimitris
dc.creatorMeindl, Alfons
dc.creatorMenon, Usha
dc.creatorMilne, Roger
dc.creatorMohd Taib, Nur Aishah
dc.creatorMuir, Kenneth
dc.creatorMulligan, Anna Marie
dc.creatorNeuhausen, Susan
dc.creatorNevanlinna, Heli
dc.creatorNeven, Patrick
dc.creatorNewman, William
dc.creatorOffit, Kenneth
dc.creatorOlopade, Olufunmilayo
dc.creatorOlshan, Andrew
dc.creatorOlson, Janet
dc.creatorOlsson, Håkan
dc.creatorPark, Sue
dc.creatorPark Simon, Tjoung Won
dc.creatorPeto, Julian
dc.creatorKaranfilska, Dijana Plaseska
dc.creatorRescigno, Esther Pohl
dc.creatorPresneau, Nadege
dc.creatorRack, Brigitte
dc.creatorRadice, Paolo
dc.creatorRashid, Muhammad
dc.creatorRennert, Gad
dc.creatorRennert, Hedy
dc.creatorRomero, Atocha
dc.creatorRuebner, Matthias
dc.creatorSaloustros, Emmanouil
dc.creatorSchmidt, Marjanka
dc.creatorSchmutzler, Rita
dc.creatorSchneider, Michael
dc.creatorSchoemaker, Minouk
dc.creatorScott, Christopher
dc.creatorYang Shen, Chen
dc.creatorOu Shu, Xiao
dc.creatorSimard, Jacques
dc.creatorSlager, Susan
dc.creatorSmichkoska, Snezhana
dc.creatorSouthey, Melissa
dc.creatorSpinelli, John
dc.creatorStone, Jennifer
dc.creatorSurowy, Harald
dc.creatorSwerdlow, Anthony
dc.creatorTamimi, Rulla
dc.creatorTapper, William
dc.creatorTeo, Soo
dc.creatorTerry, Mary Beth
dc.creatorToland, Amanda
dc.creatorTollenaar, Rob
dc.creatorTorres-López, Diana María
dc.creatorTorres Mejía, Gabriela
dc.creatorTroester, Melissa
dc.creatorTruong, Thérèse
dc.creatorTsugane , Shoichiro
dc.creatorUntch, Michael
dc.creatorVachon, Celine
dc.creatorvan den Ouweland, Ans
dc.creatorvan Veen, Elke
dc.creatorVijai, Joseph
dc.creatorWendt, Camilla
dc.creatorWolk, Alicja
dc.creatorYu, Jyh Cherng
dc.creatorZheng, Wei
dc.creatorZiogas, Argyrios
dc.creatorZiv, Elad
dc.creatorABCTB Investigators
dc.creatorNBCS Collaborators
dc.creatorDunning, Alison
dc.creatorPharoah, Paul
dc.creatorSchindler, Detlev
dc.creatorDevilee, Peter
dc.creatorEaston, Douglas
dc.creatorPeterlongo, Paolo
dc.date2020-03-27T18:31:12Z
dc.date2020-04-15T13:32:23Z
dc.date2020-03-27T18:31:12Z
dc.date2020-04-15T13:32:23Z
dc.date2019-08-29
dc.date.accessioned2025-10-30T14:04:28Z
dc.date.available2025-10-30T14:04:28Z
dc.identifierhttps://www.nature.com/articles/s41598-019-48804-y
dc.identifier2045-2322
dc.identifierhttp://hdl.handle.net/10554/47874
dc.identifierhttps://doi.org/10.1038/s41598-019-48804-y
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/193482
dc.descriptionQ1
dc.descriptionQ1
dc.description1 - 14
dc.descriptionMujeres con Cáncer de mama
dc.descriptionFanconi 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.descriptionhttps://orcid.org/0000-0002-9879-9775
dc.descriptionRevista Internacional - Indexada
dc.descriptionA1
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.sourceScientific Reports; Volumen 9 Número 1 (2019)
dc.subjectFanconis anemia
dc.subjectNonsense mutation
dc.subjectDNA Repair
dc.subjectGene
dc.subjectPALB2
dc.subjectProtein
dc.titleTwo truncating variants in FANCC and breast cancer risk
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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