Year: 2019
Type: Article
Title: Two truncating variants in FANCC and breast cancer risk
Author: Dörk, Thilo
Author: Peterlongo, Paolo
Author: Mannermaa, Arto
Author: Bolla, Manjeet K
Author: Wang, Qin
Author: Dennis, Joe
Author: Ahearn, Thomas
Author: Andrulis, Irene L
Author: Anton-Culver, Hoda
Author: Arndt, Volker
Author: Aronson, Kristan J
Author: Menon, Usha
Author: Milne, Roger L
Author: Mohd Taib, Nur Aishah
Author: Muir, Kenneth
Author: Mulligan, Anna Marie
Author: Neuhausen, Susan L
Author: Nevanlinna, Heli
Author: Neven, Patrick
Author: Newman, William G
Author: Offit, Kenneth
Author: Augustinsson, Annelie
Author: Olopade, Olufunmilayo I
Author: Olshan, Andrew F
Author: Olson, Janet E
Author: Olsson, Håkan
Author: Park, Sue K
Author: Park-Simon, Tjoung-Won
Author: Peto, Julian
Author: Plaseska-Karanfilska, Dijana
Author: Pohl-Rescigno, Esther
Author: Presneau, Nadege
Author: Freeman, Laura E Beane
Author: Rack, Brigitte
Author: Radice, Paolo
Author: Rashid, Muhammad U
Author: Rennert, Gad
Author: Rennert, Hedy S
Author: Romero, Atocha
Author: Ruebner, Matthias
Author: Saloustros, Emmanouil
Author: Schmidt, Marjanka K
Author: Schmutzler, Rita K
Author: Beckmann, Matthias W
Author: Schneider, Michael O
Author: Schoemaker, Minouk J
Author: Scott, Christopher
Author: Shen, Chen-Yang
Author: Shu, Xiao-Ou
Author: Simard, Jacques
Author: Slager, Susan
Author: Smichkoska, Snezhana
Author: Southey, Melissa C
Author: Spinelli, John J
Author: Beeghly-Fadiel, Alicia
Author: Stone, Jennifer
Author: Surowy, Harald
Author: Swerdlow, Anthony J
Author: Tamimi, Rulla M
Author: Tapper, William J
Author: Teo, Soo H
Author: Terry, Mary Beth
Author: Toland, Amanda E
Author: Tollenaar, Rob A E M
Author: Torres, Diana
Author: Behrens, Sabine
Author: Torres-Mejía, Gabriela
Author: Troester, Melissa A
Author: Truong, Thérèse
Author: Tsugane, Shoichiro
Author: Untch, Michael
Author: Vachon, Celine M
Author: Ouweland, Ans M W van den
Author: Veen, Elke M van
Author: Vijai, Joseph
Author: Wendt, Camilla
Author: Bermisheva, Marina
Author: Wolk, Alicja
Author: Yu, Jyh-Cherng
Author: Zheng, Wei
Author: Ziogas, Argyrios
Author: Ziv, Elad
Author: Dunning, Alison M
Author: Pharoah, Paul D P
Author: Schindler, Detlev
Author: Devilee, Peter
Author: Easton, Douglas F
Author: Blomqvist, Carl
Author: Bogdanova, Natalia V
Author: Bojesen, Stig E
Author: Brauch, Hiltrud
Author: Brenner, Hermann
Author: Burwinkel, Barbara
Author: Canzian, Federico
Author: Chan, Tsun L
Author: Chang-Claude, Jenny
Author: Chanock, Stephen J
Author: Choi, Ji-Yeob
Author: Christiansen, Hans
Author: Clarke, Christine L
Author: Couch, Fergus J
Author: Czene, Kamila
Author: Daly, Mary B
Author: Dos-Santos-Silva, Isabel
Author: Dwek, Miriam
Author: Eccles, Diana M
Author: Ekici, Arif B
Author: Eriksson, Mikael
Author: Evans, D Gareth
Author: Fasching, Peter A
Author: Figueroa, Jonine
Author: Flyger, Henrik
Author: Fritschi, Lin
Author: Gabrielson, Marike
Author: Gago-Dominguez, Manuela
Author: Gao, Chi
Author: Gapstur, Susan M
Author: García-Closas, Montserrat
Author: García-Sáenz, José A
Author: Gaudet, Mia M
Author: Giles, Graham G
Author: Goldberg, Mark S
Author: Goldgar, David E
Author: Guénel, Pascal
Author: Haeberle, Lothar
Author: Haiman, Christopher A
Author: Håkansson, Niclas
Author: Hall, Per
Author: Hamann, Ute
Author: Hartman, Mikael
Author: Hauke, Jan
Author: Hein, Alexander
Author: Hillemanns, Peter
Author: Hogervorst, Frans B L
Author: Hooning, Maartje J
Author: Hopper, John L
Author: Howell, Tony
Author: Huo, Dezheng
Author: Ito, Hidemi
Author: Iwasaki, Motoki
Author: Jakubowska, Anna
Author: Janni, Wolfgang
Author: John, Esther M
Author: Jung, Audrey
Author: Kaaks, Rudolf
Author: Kang, Daehee
Author: Kapoor, Pooja Middha
Author: Khusnutdinova, Elza
Author: Kim, Sung-Won
Author: Kitahara, Cari M
Author: Koutros, Stella
Author: Kraft, Peter
Author: Kristensen, Vessela N
Author: Kwong, Ava
Author: Lambrechts, Diether
Author: Marchand, Loic Le
Author: Li, Jingmei
Author: Lindström, Sara
Author: Linet, Martha
Author: Lo, Wing-Yee
Author: Long, Jirong
Author: Lophatananon, Artitaya
Author: Lubiński, Jan
Author: Manoochehri, Mehdi
Author: Manoukian, Siranoush
Author: Margolin, Sara
Author: Martinez, Elena
Author: Matsuo, Keitaro
Author: Mavroudis, Dimitris
Author: Meindl, Alfons
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.
Publisher: Springer Science and Business Media LLC
Relation: Scientific Reports
Identifier: oai:repository.ukim.mk:20.500.12188/7384
Identifier: http://hdl.handle.net/20.500.12188/7384Identifier: 10.1038/s41598-019-48804-y
Identifier: http://www.nature.com/articles/s41598-019-48804-y.pdfIdentifier: http://www.nature.com/articles/s41598-019-48804-yIdentifier: http://www.nature.com/articles/s41598-019-48804-y.pdfIdentifier: 9
Identifier: 1
