BibTex format
@article{Jim:2015:2378-3648/1410017,
author = {Jim, HSL and Lin, H-Y and Tyrer, JP and Lawrenson, K and Dennis, J and Chornokur, G and Chen, Z and Chen, AY and Permuth-Wey, J and Aben, KK and Anton-Culver, H and Antonenkova, N and Bruinsma, F and Bandera, EV and Bean, YT and Beckmann, MW and Bisogna, M and Bjorge, L and Bogdanova, N and Brinton, LA and Brooks-Wilson, A and Bunker, CH and Butzow, R and Campbell, IG and Carty, K and Chang-Claude, J and Cook, LS and Cramer, DW and Cunningham, JM and Cybulski, C and Dansonka-Mieszkowska, A and du, Bois A and Despierre, E and Sieh, W and Doherty, JA and Dörk, T and Dürst, M and Easton, DF and Eccles, DM and Edwards, RP and Ekici, AB and Fasching, PA and Fridley, BL and Gao, Y-T and Gentry-Maharaj, A and Giles, GG and Glasspool, R and Goodman, MT and Gronwald, J and Harter, P and Hasmad, HN and Hein, A and Heitz, F and Hildebrandt, MAT and Hillemanns, P and Hogdall, CK and Hogdall, E and Hosono, S and Iversen, ES and Jakubowska, A and Jensen, A and Ji, B-T and Karlan, BY and Kellar, M an},
doi = {2378-3648/1410017},
journal = {J Genet Genome Res},
title = {Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).},
url = {http://dx.doi.org/10.23937/2378-3648/1410017},
volume = {2},
year = {2015}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadian genes are highly expressed in the ovaries where they regulate ovulation; circadian disruption is associated with several ovarian cancer risk factors (e.g., endometriosis). However, no studies have examined variation in germline circadian genes as predictors of ovarian cancer risk and invasiveness. The goal of the current study was to examine single nucleotide polymorphisms (SNPs) in circadian genes BMAL1, CRY2, CSNK1E, NPAS2, PER3, REV1 and TIMELESS and downstream transcription factors KLF10 and SENP3 as predictors of risk of epithelial ovarian cancer (EOC) and histopathologic subtypes. The study included a test set of 3,761 EOC cases and 2,722 controls and a validation set of 44,308 samples including 18,174 (10,316 serous) cases and 26,134 controls from 43 studies participating in the Ovarian Cancer Association Consortium (OCAC). Analysis of genotype data from 36 genotyped SNPs and 4600 imputed SNPs indicated that the most significant association was rs117104877 in BMAL1 (OR = 0.79, 95% CI = 0.68-0.90, p = 5.59 × 10-4]. Functional analysis revealed a significant down regulation of BMAL1 expression following cMYC overexpression and increasing transformation in ovarian surface epithelial (OSE) cells as well as alternative splicing of BMAL1 exons in ovarian and granulosa cells. These results suggest that variation in circadian genes, and specifically BMAL1, may be associated with risk of ovarian cancer, likely through disruption of hormonal pathways.
AU - Jim,HSL
AU - Lin,H-Y
AU - Tyrer,JP
AU - Lawrenson,K
AU - Dennis,J
AU - Chornokur,G
AU - Chen,Z
AU - Chen,AY
AU - Permuth-Wey,J
AU - Aben,KK
AU - Anton-Culver,H
AU - Antonenkova,N
AU - Bruinsma,F
AU - Bandera,EV
AU - Bean,YT
AU - Beckmann,MW
AU - Bisogna,M
AU - Bjorge,L
AU - Bogdanova,N
AU - Brinton,LA
AU - Brooks-Wilson,A
AU - Bunker,CH
AU - Butzow,R
AU - Campbell,IG
AU - Carty,K
AU - Chang-Claude,J
AU - Cook,LS
AU - Cramer,DW
AU - Cunningham,JM
AU - Cybulski,C
AU - Dansonka-Mieszkowska,A
AU - du,Bois A
AU - Despierre,E
AU - Sieh,W
AU - Doherty,JA
AU - Dörk,T
AU - Dürst,M
AU - Easton,DF
AU - Eccles,DM
AU - Edwards,RP
AU - Ekici,AB
AU - Fasching,PA
AU - Fridley,BL
AU - Gao,Y-T
AU - Gentry-Maharaj,A
AU - Giles,GG
AU - Glasspool,R
AU - Goodman,MT
AU - Gronwald,J
AU - Harter,P
AU - Hasmad,HN
AU - Hein,A
AU - Heitz,F
AU - Hildebrandt,MAT
AU - Hillemanns,P
AU - Hogdall,CK
AU - Hogdall,E
AU - Hosono,S
AU - Iversen,ES
AU - Jakubowska,A
AU - Jensen,A
AU - Ji,B-T
AU - Karlan,BY
AU - Kellar,M
AU - Kiemeney,LA
AU - Krakstad,C
AU - Kjaer,SK
AU - Kupryjanczyk,J
AU - Vierkant,RA
AU - Lambrechts,D
AU - Lambrechts,S
AU - Le,ND
AU - Lee,AW
AU - Lele,S
AU - Leminen,A
AU - Lester,J
AU - Levine,DA
AU - Liang,D
AU - Lim,BK
AU - Lissowska,J
AU - Lu,K
AU - Lubinski,J
AU - Lundvall,L
AU - Massuger,LFAG
AU - Matsuo,K
AU - McGuire,V
AU - McLaughlin,JR
AU - McNeish,I
AU - Menon,U
AU - Milne,RL
AU - Modugno,F
AU - Thomsen,L
AU - Moysich,KB
AU - Ness,RB
AU - Nevanlinna,H
AU - Eilber,U
AU - Odunsi,K
AU - Olson,SH
AU - Orlow,I
AU - Orsulic,S
AU - Palmieri,Weber R
AU - Paul,J
AU - Pearce,CL
AU - Pejovic,T
AU - Pelttari,LM
AU - Pike,MC
AU - Poole,EM
AU - Schernhammer,E
AU - Risch,HA
AU - Rosen,B
AU - Rossing,MA
AU - Rothstein,JH
AU - Rudolph,A
AU - Runnebaum,IB
AU - Rzepecka,IK
AU - Salvesen,HB
AU - Schwaab,I
AU - Shu,X-O
AU - Shvetsov,YB
AU - Siddiqui,N
AU - Song,H
AU - Southey,MC
AU - Spiewankiewicz,B
AU - Sucheston-Campbell,L
AU - Teo,S-H
AU - Terry,KL
AU - Thompson,PJ
AU - Tangen,IL
AU - Tworoger,SS
AU - van,Altena AM
AU - Vergote,I
AU - Walsh,CS
AU - Wang-Gohrke,S
AU - Wentzensen,N
AU - Whittemore,AS
AU - Wicklund,KG
AU - Wilkens,LR
AU - Wu,AH
AU - Wu,X
AU - Woo,Y-L
AU - Yang,H
AU - Zheng,W
AU - Ziogas,A
AU - Amankwah,E
AU - Berchuck,A
AU - Georgia,Chenevix-Trench on behalf of the AOCS management group 95 96
AU - Schildkraut,JM
AU - Kelemen,LE
AU - Ramus,SJ
AU - Monteiro,ANA
AU - Goode,EL
AU - Narod,SA
AU - Gayther,SA
AU - Pharoah,PDP
AU - Sellers,TA
AU - Phelan,CM
DO - 2378-3648/1410017
PY - 2015///
SN - 2378-3648
TI - Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).
T2 - J Genet Genome Res
UR - http://dx.doi.org/10.23937/2378-3648/1410017
UR - https://www.ncbi.nlm.nih.gov/pubmed/26807442
VL - 2
ER -