Authors
Dork, TPeterlongo, 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, 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, FBL
Hooning, MJ
Hopper, JL
Howell, Anthony
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, NAM
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, RAEM
Torres, D
Torres-Mejia, G
Troester, MA
Truong, T
Tsugane, S
Untch, M
Vachon, CM
van den Ouweland, A. M. W.
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, KV
Helland, A
Riis, M
Geisler, J
Affiliation
Gynaecology Research Unit, Hannover Medical School, Hannover, GermanyIssue Date
2019
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Show full item recordAbstract
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.Citation
Dork T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, et al. Two truncating variants in FANCC and breast cancer risk. Sci Rep. 2019 Aug 29;9(1):12524.Journal
Scientific ReportsDOI
10.1038/s41598-019-48804-yPubMed ID
31467304Additional Links
https://dx.doi.org/10.1038/s41598-019-48804-yType
ArticleLanguage
enae974a485f413a2113503eed53cd6c53
10.1038/s41598-019-48804-y
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