- Title
- Two truncating variants in FANCC and breast cancer risk
- Creator
- Dörk, Thilo; Peterlongo, Paolo; Aronson, Kristan J.; Menon, U; Milne, RL; Taib, NAM; Muir, K; Mulligan, AM; Neuhausen, SL; Nevanlinna, H; Neven, P; Newman, WG; Offit, K; Augustinsson, Annelie; Olopade, O; Olshan, AF; Olson, JE; Olsson, H; Park, SK; Park-Simon, T-W; Peto, J; Plaseska-Karanfilska, D; Pohl-Rescigno, E; Presneau, N; Freeman, Laura E. Beane; Rack, B; Radice, P; Rashid, MU; Rennert, G; Rennert, HS; Romero, A; Ruebner, M; Saloustros, E; Schmidt, MK; Schmutzler, RK; Beckmann, Matthias W.; Schneider, MO; Schoemaker, MJ; Scott, C; Shen, C-Y; Shu, X-O; Simard, J; Slager, S; Smichkoska, S; Southey, MC; Spinelli, JJ; Beeghly-Fadiel, Alicia; Stone, J; Surowy, H; Swerdlow, AJ; Tamimi, RM; Tapper, WJ; Teo, SH; Terry, MB; Toland, AE; Tollenaar, RAEM; Torres, D; Behrens, Sabine; Torres-Mejia, G; Troester, MA; Truong, T; Tsugane, S; Untch, M; Vachon, CM; van den Ouweland, AMW; van Veen, EM; Vijai, J; Wendt, C; Bermisheva, Marina; Wolk, A; Yu, J-C; Zheng, W; Ziogas, A; Ziv, E; Dunning, AM; Pharoah, PDP; Schindler, D; Devilee, P; Easton, DF; Blomqvist, Carl; Balleine, R; Baxter, R; Braye, S; Carpenter, J; Dahlstrom, J; Forbes, John; Lee, CS; Marsh, D; Morey, A; Pathmanathan, N; Bogdanova, Natalia V.; Scott, Rodney; Simpson, P; Spigelman, A; Wilcken, N; Yip, D; Zeps, N; Borresen-Dale, A-L; Alnaes, GIG; Sahlberg, KK; Ottestad, L; Bojesen, Stig E.; Karesen, R; Schlichting, E; Holmen, MM; Sauer, T; Haakensen, V; Engebraten, O; Naume, B; Fossa, A; Kiserud, CE; Reinertsen, K; Mannermaa, Arto; Brauch, H; Helland, A; Riis, M; Geisler, J; Brenner, H; Burwinkel, B; Canzian, F; Chan, TL; Chang-Claude, J; Chanock, SJ; Choi, J-Y; Christiansen, H; Clarke, CL; Bolla, Manjeet K.; Couch, FJ; Czene, K; Daly, MB; dos-Santos-Silva, I; Dwek, M; Eccles, DM; Ekici, AB; Eriksson, M; Evans, DG; Fasching, PA; Wang, Qin; Figueroa, J; Flyger, H; Fritschisl, L; Gabrielson, M; Gago-Dominguez, M; Gao, C; Gapstur, SM; Garcia-Closas, M; Garcia-Saenz, JA; Gaudet, MM; Dennis, Joe; Giles, GG; Goldberg, MS; Goldgar, DE; Guenel, P; Haeberle, L; Haiman, CA; Hakansson, N; Hall, P; Hamann, U; Hartman, M; Ahearn, Thomas; Hauke, J; Hein, A; Hillemanns, P; Hogervorst, FBL; Hooning, MJ; Hopper, JL; Howell, T; Huo, D; Ito, H; Iwasaki, M; Andrulis, Irene L.; Jakubowska, A; Janni, W; John, EM; Jung, A; Kaaks, R; Kang, D; Kapoor, PM; Khusnutdinova, E; Kim, S-W; Kitahara, CM; Anton-Culver, Hoda; Koutros, S; Kraft, P; Kristensen, VN; Kwon, A; Lambrechts, D; Le Marchand, L; Li, J; Lindstrom, S; Linet, M; Lo, W-Y; Arndt, Volker; Long, J; Lophatananon, A; Lubinski, J; Manoochehri, M; Manoukian, S; Margolin, S; Martinez, E; Matsuo, K; Mavroudis, D; Meindl, A
- Relation
- Scientific Reports Vol. 9, Issue 1, no. 12524
- Publisher Link
- http://dx.doi.org/10.1038/s41598-019-48804-y
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2019
- Description
- 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.
- Subject
- truncating variants; FANCC; breast cancer; mutations; SDG 3; Sustainable Development Goals
- Identifier
- http://hdl.handle.net/1959.13/1455717
- Identifier
- uon:45124
- Identifier
- ISSN:2045-2322
- Rights
- This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
- Language
- eng
- Full Text
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