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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 LE, Beckmann MW, 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 PA, 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, Haeberle L, Haiman CA, Hakansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FB, Hooning MJ, Hopper JL, Howell T, Huo DZ, 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 JM, Lindstrom S, Linet M, Lo WY, Long JR, Lophatananon A, Lubinski J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Taib NA, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade OI, 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, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider MO, 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 R, Torres D, Torres-Mejia G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, van den Ouweland AM, van Veen EM, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E, Dunning AM, Pharoah PD, 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 GI, Sahlberg KK, Ottestad L, Karesen R, Schlichting E, Holmen MM, Sauer T, Haakensen V, Engebraten O, Naume B, Fossa A, Kiserud CE, Reinertsen KV, Helland A, Riis M, Geisler J, Abctb Investigators, Nbcs Collaborators
Two truncating variants in FANCC and breast cancer risk
Sci Rep (2019) 9:12524.
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.
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Publication Date: 2019-08-01.
PMCID: PMC6715680
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Last updated on Monday, November 04, 2019