Two truncating variants in FANCC and breast cancer risk
Creators: name: Dörk, Thilo
name: Peterlongo, Paolo
name: Mannermaa, Arto
name: Bolla, Manjeet K.
name: Wang, Qin
name: Dennis, Joe
name: Ahearn, Thomas
name: Andrulis, Irene L.
name: Anton-Culver, Hoda
name: Arndt, Volker
name: Aronson, Kristan J.
name: Augustinsson, Annelie
name: Freeman, Laura E. Beane
name: Beckmann, Matthias W.
name: Beeghly-Fadiel, Alicia
name: Behrens, Sabine
name: Bermisheva, Marina
name: Blomqvist, Carl
name: Bogdanova, Natalia V.
name: Bojesen, Stig E.
name: Brauch, Hiltrud
name: Brenner, Hermann
name: Burwinkel, Barbara
name: Canzian, Federico
name: Chan, Tsun L.
name: Chang-Claude, Jenny
name: Chanock, Stephen J.
name: Choi, Ji-Yeob
name: Christiansen, Hans
name: Clarke, Christine L.
name: Couch, Fergus J.
name: Czene, Kamila
name: Daly, Mary B.
name: Dos-Santos-Silva, Isabel
name: Dwek, Miriam
name: Eccles, Diana M.
name: Ekici, Arif B.
name: Eriksson, Mikael
name: Evans, D. Gareth
name: Fasching, Peter A.
name: Figueroa, Jonine
name: Flyger, Henrik
name: Fritschi, Lin
name: Gabrielson, Marike
name: Gago-Dominguez, Manuela
name: Gao, Chi
name: Gapstur, Susan M.
name: García-Closas, Montserrat
name: García-Sáenz, José A.
name: Gaudet, Mia M.
name: Giles, Graham G.
name: Goldberg, Mark S.
name: Goldgar, David E.
name: Guénel, Pascal
name: Haeberle, Lothar
name: Haiman, Christopher A.
name: Håkansson, Niclas
name: Hall, Per
name: Hamann, Ute
name: Hartman, Mikael
name: Hauke, Jan
name: Hein, Alexander
name: Hillemanns, Peter
name: Hogervorst, Frans B. L.
name: Hooning, Maartje J.
name: Hopper, John L.
name: Howell, Tony
name: Huo, Dezheng
name: Ito, Hidemi
name: Iwasaki, Motoki
name: Jakubowska, Anna
name: Janni, Wolfgang
name: John, Esther M.
name: Jung, Audrey
name: Kaaks, Rudolf
name: Kang, Daehee
name: Kapoor, Pooja Middha
name: Khusnutdinova, Elza
name: Kim, Sung-Won
name: Kitahara, Cari M.
name: Koutros, Stella
name: Kraft, Peter
name: Kristensen, Vessela N.
name: Kwong, Ava
name: Lambrechts, Diether
name: Marchand, Loic Le
name: Li, Jingmei
name: Lindström, Sara
name: Linet, Martha
name: Lo, Wing-Yee
name: Long, Jirong
name: Lophatananon, Artitaya
name: Lubiński, Jan
name: Manoochehri, Mehdi
name: Manoukian, Siranoush
name: Margolin, Sara
name: Martinez, Elena
name: Matsuo, Keitaro
name: Mavroudis, Dimitris
name: Meindl, Alfons
name: Menon, Usha
name: Milne, Roger L.
name: Mohd Taib, Nur Aishah
name: Muir, Kenneth
name: Mulligan, Anna Marie
name: Neuhausen, Susan L.
name: Nevanlinna, Heli
name: Neven, Patrick
name: Newman, William G.
name: Offit, Kenneth
name: Olopade, Olufunmilayo I.
name: Olshan, Andrew F.
name: Olson, Janet E.
name: Olsson, Håkan
name: Park, Sue K.
name: Park-Simon, Tjoung-Won
name: Peto, Julian
name: Plaseska-Karanfilska, Dijana
name: Pohl-Rescigno, Esther
name: Presneau, Nadege
name: Rack, Brigitte
name: Radice, Paolo
name: Rashid, Muhammad U.
name: Rennert, Gad
name: Rennert, Hedy S.
name: Romero, Atocha
name: Ruebner, Matthias
name: Saloustros, Emmanouil
name: Schmidt, Marjanka K.
name: Schmutzler, Rita K.
name: Schneider, Michael O.
name: Schoemaker, Minouk J.
name: Scott, Christopher
name: Shen, Chen-Yang
name: Shu, Xiao-Ou
name: Simard, Jacques
name: Slager, Susan
name: Smichkoska, Snezhana
name: Southey, Melissa C.
name: Spinelli, John J.
name: Stone, Jennifer
name: Surowy, Harald
name: Swerdlow, Anthony J.
name: Tamimi, Rulla M.
name: Tapper, William J.
name: Teo, Soo H.
name: Terry, Mary Beth
name: Toland, Amanda E.
name: Tollenaar, Rob A. E. M.
name: Torres, Diana
name: Torres-Mejía, Gabriela
name: Troester, Melissa A.
name: Truong, Thérèse
name: Tsugane, Shoichiro
name: Untch, Michael
name: Vachon, Celine M.
name: Ouweland, Ans M. W. Van Den
name: Veen, Elke M. Van
name: Vijai, Joseph
name: Wendt, Camilla
name: Wolk, Alicja
name: Yu, Jyh-Cherng
name: Zheng, Wei
name: Ziogas, Argyrios
name: Ziv, Elad
name: Dunning, Alison M.
name: Pharoah, Paul D. P.
name: Schindler, Detlev
name: Devilee, Peter
name: Easton, Douglas F.
name: Balleine, Rosemary
name: Baxter, Robert
name: Braye, Stephen
name: Carpenter, Jane
name: Dahlstrom, Jane
name: Forbes, John
name: Lee, C. Soon
name: Marsh, Deborah
name: Morey, Adrienne
name: Pathmanathan, Nirmala
name: Scott, Rodney
name: Simpson, Peter
name: Spigelman, Allan
name: Wilcken, Nicholas
name: Yip, Desmond
name: Zeps, Nikolajs
name: Børresen-Dale, Anne-Lise
name: Grenaker Alnæs, Grethe I.
name: Sahlberg, Kristine K.
name: Ottestad, Lars
name: Kåresen, Rolf
name: Schlichting, Ellen
name: Holmen, Marit Muri
name: Sauer, Toril
name: Haakensen, Vilde
name: Engebråten, Olav
name: Naume, Bjørn
name: Fosså, Alexander
name: Kiserud, Cecile E.
name: Reinertsen, Kristin V.
name: Helland, Åslaug
name: Riis, Margit
name: Geisler, Jürgen
Publisher: name: Apollo - University of Cambridge Repository
Year: 2019
Subjects: Article
/692/4028
/692/499
/45
/45/47
article

description: 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.