Publication

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.

Kiemeney, Lambertus A
; 
Sulem, Patrick
; 
Besenbacher, Soren
; 
Vermeulen, Sita H
; 
Sigurdsson, Asgeir
; 
Thorleifsson, Gudmar
; 
Gudbjartsson, Daniel F
; 
Stacey, Simon N
; 
Gudmundsson, Julius
; 
Zanon, Carlo
... show 10 more
Citations
Altmetric:
Abstract
Previously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.
Authors
Kiemeney, Lambertus A
Sulem, Patrick
Besenbacher, Soren
Vermeulen, Sita H
Sigurdsson, Asgeir
Thorleifsson, Gudmar
Gudbjartsson, Daniel F
Stacey, Simon N
Gudmundsson, Julius
Zanon, Carlo
Kostic, Jelena
Masson, Gisli
Bjarnason, Hjordis
Palsson, Stefan T
Skarphedinsson, Oskar B
Gudjonsson, Sigurjon A
Witjes, J Alfred
Grotenhuis, Anne J
Verhaegh, Gerald W
Bishop, D Timothy
Sak, Sei Chung
Choudhury, Ananya
Elliott, Faye
Barrett, Jennifer H
Hurst, Carolyn D
de Verdier, Petra J
Ryk, Charlotta
Rudnai, Peter
Gurzau, Eugene
Koppova, Kvetoslava
Vineis, Paolo
Polidoro, Silvia
Guarrera, Simonetta
Sacerdote, Carlotta
Campagna, Marcello
Placidi, Donatella
Arici, Cecilia
Zeegers, Maurice P
Kellen, Eliane
Gutierrez, Berta Saez
Sanz-Velez, José I
Sanchez-Zalabardo, Manuel
Valdivia, Gabriel
Garcia-Prats, Maria D
Hengstler, Jan G
Blaszkewicz, Meinolf
Dietrich, Holger
Ophoff, Roel A
van den Berg, Leonard H
Alexiusdottir, Kristin
Kristjansson, Kristleifur
Geirsson, Gudmundur
Nikulasson, Sigfus
Petursdottir, Vigdis
Kong, Augustine
Thorgeirsson, Thorgeir
Mungan, N Aydin
Lindblom, Annika
van Es, Michael A
Porru, Stefano
Buntinx, Frank
Golka, Klaus
Mayordomo, José I
Kumar, Rajiv
Matullo, Giuseppe
Steineck, Gunnar
Kiltie, Anne E
Aben, Katja K H
Jonsson, Eirikur
Thorsteinsdottir, Unnur
Knowles, Margaret A
Rafnar, Thorunn
Stefansson, Kari
Affiliation
Department of Epidemiology, Biostatistics and Health Technology Assessment, Nijmegen, The Netherlands. b.kiemeney@ebh.umcn.nl
Description
Date
2010-05
Publisher
Collections
All Christie Publications
Show all metadata
Keywords
Urinary Bladder Cancer
Type
Article
Citation
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. 2010, 42 (5):415-9 Nat Genet
Journal Title
Journal ISSN
Volume Title
URI
http://hdl.handle.net/10541/109375
Embedded videos