Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-019-48804-y
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dc.titleTwo truncating variants in FANCC and breast cancer risk
dc.contributor.authorDork, Thilo
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorMannermaa, Arto
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorWang, Qin
dc.contributor.authorDennis, Joe
dc.contributor.authorAhearn, Thomas
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorArndt, Volker
dc.contributor.authorAronson, Kristan J
dc.contributor.authorAugustinsson, Annelie
dc.contributor.authorFreeman, Laura E Beane
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorBeeghly-Fadiel, Alicia
dc.contributor.authorBehrens, Sabine
dc.contributor.authorBermisheva, Marina
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorBogdanova, Natalia
dc.contributor.authorBojesen, Stig E
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorCanzian, Federico
dc.contributor.authorChan, Tsun L
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChanock, Stephen J
dc.contributor.authorChoi, Ji-Yeob
dc.contributor.authorChristiansen, Hans
dc.contributor.authorClarke, Christine L
dc.contributor.authorCouch, Fergus J
dc.contributor.authorCzene, Kamila
dc.contributor.authorDaly, Mary B
dc.contributor.authordos-Santos-Silva, Isabel
dc.contributor.authorDwek, Miriam
dc.contributor.authorEccles, Diana M
dc.contributor.authorEkici, Arif B
dc.contributor.authorEriksson, Mikael
dc.contributor.authorEvans, D Gareth
dc.contributor.authorFasching, Peter A
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorFlyger, Henrik
dc.contributor.authorFritschisl, Lin
dc.contributor.authorGabrielson, Marike
dc.contributor.authorGago-Dominguez, Manuela
dc.contributor.authorGao, Chi
dc.contributor.authorGapstur, Susan M
dc.contributor.authorGarcia-Closas, Montserrat
dc.contributor.authorGarcia-Saenz, Jose A
dc.contributor.authorGaudet, Mia M
dc.contributor.authorGiles, Graham G
dc.contributor.authorGoldberg, Mark S
dc.contributor.authorGoldgar, David E
dc.contributor.authorGuenel, Pascal
dc.contributor.authorHaeberle, Lothar
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHakansson, Niclas
dc.contributor.authorHall, Per
dc.contributor.authorHamann, Ute
dc.contributor.authorHartman, Mikael
dc.contributor.authorHauke, Jan
dc.contributor.authorHein, Alexander
dc.contributor.authorHillemanns, Peter
dc.contributor.authorHogervorst, Frans BL
dc.contributor.authorHooning, Maartje J
dc.contributor.authorHopper, John L
dc.contributor.authorHowell, Tony
dc.contributor.authorHuo, Dezheng
dc.contributor.authorIto, Hidemi
dc.contributor.authorIwasaki, Motoki
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJanni, Wolfgang
dc.contributor.authorJohn, Esther M
dc.contributor.authorJung, Audrey
dc.contributor.authorKaaks, Rudolf
dc.contributor.authorKang, Daehee
dc.contributor.authorKapoor, Pooja Middha
dc.contributor.authorKhusnutdinova, Elza
dc.contributor.authorKim, Sung-Won
dc.contributor.authorKitahara, Cari M
dc.contributor.authorKoutros, Stella
dc.contributor.authorKraft, Peter
dc.contributor.authorKristensen, Vessela N
dc.contributor.authorKwon, Ava
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorLi, Jingmei
dc.contributor.authorLindstrom, Sara
dc.contributor.authorLinet, Martha
dc.contributor.authorLo, Wing-Yee
dc.contributor.authorLong, Jirong
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorLubinski, Jan
dc.contributor.authorManoochehri, Mehdi
dc.contributor.authorManoukian, Siranoush
dc.contributor.authorMargolin, Sara
dc.contributor.authorMartinez, Elena
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorMavroudis, Dimitris
dc.contributor.authorMeindl, Alfons
dc.contributor.authorMenon, Usha
dc.contributor.authorMilne, Roger L
dc.contributor.authorTaib, Nur Aishah Mohd
dc.contributor.authorMuir, Kenneth
dc.contributor.authorMulligan, Anna Marie
dc.contributor.authorNeuhausen, Susan L
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorNeven, Patrick
dc.contributor.authorNewman, William G
dc.contributor.authorOffit, Kenneth
dc.contributor.authorOlopade, Olufunmilayo
dc.contributor.authorOlshan, Andrew F
dc.contributor.authorOlson, Janet E
dc.contributor.authorOlsson, Hakan
dc.contributor.authorPark, Sue K
dc.contributor.authorPark-Simon, Tjoung-Won
dc.contributor.authorPeto, Julian
dc.contributor.authorPlaseska-Karanfilska, Dijana
dc.contributor.authorPohl-Rescigno, Esther
dc.contributor.authorPresneau, Nadege
dc.contributor.authorRack, Brigitte
dc.contributor.authorRadice, Paolo
dc.contributor.authorRashid, Muhammad U
dc.contributor.authorRennert, Gad
dc.contributor.authorRennert, Hedy S
dc.contributor.authorRomero, Atocha
dc.contributor.authorRuebner, Matthias
dc.contributor.authorSaloustros, Emmanouil
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorSchneider, Michael O
dc.contributor.authorSchoemaker, Minouk J
dc.contributor.authorScott, Christopher
dc.contributor.authorShen, Chen-Yang
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSimard, Jacques
dc.contributor.authorSlager, Susan
dc.contributor.authorSmichkoska, Snezhana
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorSpinelli, John J
dc.contributor.authorStone, Jennifer
dc.contributor.authorSurowy, Harald
dc.contributor.authorSwerdlow, Anthony J
dc.contributor.authorTamimi, Rulla M
dc.contributor.authorTapper, William J
dc.contributor.authorTeo, Soo H
dc.contributor.authorTerry, Mary Beth
dc.contributor.authorToland, Amanda E
dc.contributor.authorTollenaar, Rob AEM
dc.contributor.authorTorres, Diana
dc.contributor.authorTorres-Mejia, Gabriela
dc.contributor.authorTroester, Melissa A
dc.contributor.authorTruong, Therese
dc.contributor.authorTsugane, Shoichiro
dc.contributor.authorUntch, Michael
dc.contributor.authorVachon, Celine M
dc.contributor.authorvan den Ouweland, Ans MW
dc.contributor.authorvan Veen, Elke M
dc.contributor.authorVijai, Joseph
dc.contributor.authorWendt, Camilla
dc.contributor.authorWolk, Alicja
dc.contributor.authorYu, Jyh-Cherng
dc.contributor.authorZheng, Wei
dc.contributor.authorZiogas, Argyrios
dc.contributor.authorZiv, Elad
dc.contributor.authorDunning, Alison M
dc.contributor.authorPharoah, Paul DP
dc.contributor.authorSchindler, Detlev
dc.contributor.authorDevilee, Peter
dc.contributor.authorEaston, Douglas F
dc.contributor.authorBalleine, Rosemary
dc.contributor.authorBaxter, Robert
dc.contributor.authorBraye, Stephen
dc.contributor.authorCarpenter, Jane
dc.contributor.authorDahlstrom, Jane
dc.contributor.authorForbes, John
dc.contributor.authorLee, C Soon
dc.contributor.authorMarsh, Deborah
dc.contributor.authorMorey, Adrienne
dc.contributor.authorPathmanathan, Nirmala
dc.contributor.authorScott, Rodney
dc.contributor.authorSimpson, Peter
dc.contributor.authorSpigelman, Allan
dc.contributor.authorWilcken, Nicholas
dc.contributor.authorYip, Desmond
dc.contributor.authorZeps, Nikolajs
dc.contributor.authorBorresen-Dale, Anne-Lise
dc.contributor.authorAlnaes, Grethe I Grenaker
dc.contributor.authorSahlberg, Kristine K
dc.contributor.authorOttestad, Lars
dc.contributor.authorKaresen, Rolf
dc.contributor.authorSchlichting, Ellen
dc.contributor.authorHolmen, Marit Muri
dc.contributor.authorSauer, Toril
dc.contributor.authorHaakensen, Vilde
dc.contributor.authorEngebraten, Olav
dc.contributor.authorNaume, Bjorn
dc.contributor.authorFossa, Alexander
dc.contributor.authorKiserud, Cecile E
dc.contributor.authorReinertsen, Kristin
dc.contributor.authorHelland, Aslaug
dc.contributor.authorRiis, Margit
dc.contributor.authorGeisler, Juergen
dc.date.accessioned2021-11-26T04:00:11Z
dc.date.available2021-11-26T04:00:11Z
dc.date.issued2019-08-29
dc.identifier.citationDork, Thilo, Peterlongo, Paolo, Mannermaa, Arto, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Freeman, Laura E Beane, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, Bojesen, Stig E, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Canzian, Federico, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L, Couch, Fergus J, Czene, Kamila, Daly, Mary B, dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Fritschisl, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Chi, Gapstur, Susan M, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, Goldgar, David E, Guenel, Pascal, Haeberle, Lothar, Haiman, Christopher A, Hakansson, Niclas, Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hein, Alexander, Hillemanns, Peter, Hogervorst, Frans BL, Hooning, Maartje J, Hopper, John L, Howell, Tony, Huo, Dezheng, Ito, Hidemi, Iwasaki, Motoki, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Kapoor, Pooja Middha, Khusnutdinova, Elza, Kim, Sung-Won, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kwon, Ava, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindstrom, Sara, Linet, Martha, Lo, Wing-Yee, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Elena, Matsuo, Keitaro, Mavroudis, Dimitris, Meindl, Alfons, Menon, Usha, Milne, Roger L, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Newman, William G, Offit, Kenneth, Olopade, Olufunmilayo, Olshan, Andrew F, Olson, Janet E, Olsson, Hakan, Park, Sue K, Park-Simon, Tjoung-Won, Peto, Julian, Plaseska-Karanfilska, Dijana, Pohl-Rescigno, Esther, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Ruebner, Matthias, Saloustros, Emmanouil, Schmidt, Marjanka K, Schmutzler, Rita K, Schneider, Michael O, Schoemaker, Minouk J, Scott, Christopher, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Slager, Susan, Smichkoska, Snezhana, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Teo, Soo H, Terry, Mary Beth, Toland, Amanda E, Tollenaar, Rob AEM, Torres, Diana, Torres-Mejia, Gabriela, Troester, Melissa A, Truong, Therese, Tsugane, Shoichiro, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans MW, van Veen, Elke M, Vijai, Joseph, Wendt, Camilla, Wolk, Alicja, Yu, Jyh-Cherng, Zheng, Wei, Ziogas, Argyrios, Ziv, Elad, Dunning, Alison M, Pharoah, Paul DP, Schindler, Detlev, Devilee, Peter, Easton, Douglas F, Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane, Forbes, John, Lee, C Soon, Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Scott, Rodney, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas, Yip, Desmond, Zeps, Nikolajs, Borresen-Dale, Anne-Lise, Alnaes, Grethe I Grenaker, Sahlberg, Kristine K, Ottestad, Lars, Karesen, Rolf, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebraten, Olav, Naume, Bjorn, Fossa, Alexander, Kiserud, Cecile E, Reinertsen, Kristin, Helland, Aslaug, Riis, Margit, Geisler, Juergen (2019-08-29). Two truncating variants in FANCC and breast cancer risk. SCIENTIFIC REPORTS 9 (1) : 12524. ScholarBank@NUS Repository. https://doi.org/10.1038/s41598-019-48804-y
dc.identifier.issn20452322
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/208264
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.language.isoen
dc.publisherNATURE PUBLISHING GROUP
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceElements
dc.subjectScience & Technology
dc.subjectMultidisciplinary Sciences
dc.subjectScience & Technology - Other Topics
dc.subjectFANCONIS ANEMIA
dc.subjectNONSENSE MUTATION
dc.subjectDNA-REPAIR
dc.subjectGENE
dc.subjectPALB2
dc.subjectPROTEIN
dc.typeArticle
dc.date.updated2021-11-25T16:21:17Z
dc.contributor.departmentDEPT OF SURGERY
dc.contributor.departmentEPIDEMIOLOGY & PUBLIC HEALTH
dc.description.doi10.1038/s41598-019-48804-y
dc.description.sourcetitleSCIENTIFIC REPORTS
dc.description.volume9
dc.description.issue1
dc.description.page12524
dc.published.statePublished
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