Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41598-019-48804-y
Title: Two truncating variants in FANCC and breast cancer risk
Authors: Dork, 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
Keywords: Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
FANCONIS ANEMIA
NONSENSE MUTATION
DNA-REPAIR
GENE
PALB2
PROTEIN
Issue Date: 29-Aug-2019
Publisher: NATURE PUBLISHING GROUP
Citation: Dork, 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
Rights: Attribution 4.0 International
Abstract: Fanconi 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.
Source Title: SCIENTIFIC REPORTS
URI: https://scholarbank.nus.edu.sg/handle/10635/208264
ISSN: 20452322
DOI: 10.1038/s41598-019-48804-y
Rights: Attribution 4.0 International
Appears in Collections:Staff Publications
Elements

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
Two truncating variants in FANCC and breast cancer risk.pdfPublished version963.05 kBAdobe PDF

OPEN

PublishedView/Download

SCOPUSTM   
Citations

3
checked on Sep 23, 2022

Page view(s)

84
checked on Sep 29, 2022

Download(s)

3
checked on Sep 29, 2022

Google ScholarTM

Check

Altmetric


This item is licensed under a Creative Commons License Creative Commons