Dork T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann M, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova N, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching P, Figueroa J, Flyger H, Fritschisl L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guenel P, Häberle L, Haiman CA, Hakansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwon A, Lambrechts D, Le Marchand L, Li J, Lindstrom S, Linet M, Lo WY, Long J, Lophatananon A, Lubinski J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Taib NAM, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade O, Olshan AF, Olson JE, Olsson H, Park SK, Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E, Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS, Romero A, Rübner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider M, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J, Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejia G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, Van Den Ouweland AMW, Van Veen EM, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Pharoah PDP, Schindler D, Devilee P, Easton DF, Balleine R, Baxter R, Braye S, Carpenter J, Dahlstrom J, Forbes J, Lee CS, Marsh D, Morey A, Pathmanathan N, Scott R, Simpson P, Spigelman A, Wilcken N, Yip D, Zeps N, Borresen-Dale AL, Alnaes GIG, Sahlberg KK, Ottestad L, Karesen R, Schlichting E, Holmen MM, Sauer T, Haakensen V, Engebraten O, Naume B, Fossa A, Kiserud CE, Reinertsen K, Helland A, Riis M, Geisler J (2019)
Publication Type: Journal article
Publication year: 2019
Book Volume: 9
Article Number: 12524
Journal Issue: 1
DOI: 10.1038/s41598-019-48804-y
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.
APA:
Dork, T., Peterlongo, P., Mannermaa, A., Bolla, M.K., Wang, Q., Dennis, J.,... Geisler, J. (2019). Two truncating variants in FANCC and breast cancer risk. Scientific Reports, 9(1). https://dx.doi.org/10.1038/s41598-019-48804-y
MLA:
Dork, Thilo, et al. "Two truncating variants in FANCC and breast cancer risk." Scientific Reports 9.1 (2019).
BibTeX: Download