Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
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Author
Jim, Heather S.L.
Lin, Hui-Yi
Tyrer, Jonathan P.
Lawrenson, Kate
Dennis, Joe
Chornokur, Ganna
Chen, Zhihua
Chen, Ann Y.
Permuth-Wey, Jennifer
Aben, Katja KH.
Anton-Culver, Hoda
Antonenkova, Natalia
Bruinsma, Fiona
Bandera, Elisa V.
Bean, Yukie T.
Beckmann, Matthias W.
Bisogna, Maria
Bjorge, Line
Bogdanova, Natalia
Brinton, Louise A.
Brooks-Wilson, Angela
Bunker, Clareann H.
Butzow, Ralf
Campbell, Ian G.
Carty, Karen
Chang-Claude, Jenny
Cook, Linda S.
Cunningham, Julie M.
Cybulski, Cezary
Dansonka-Mieszkowska, Agnieszka
du Bois, Andreas
Despierre, Evelyn
Sieh, Weiva
Doherty, Jennifer A.
Dörk, Thilo
Dürst, Matthias
Easton, Douglas F.
Eccles, Diana M.
Edwards, Robert P.
Ekici, Arif B.
Fasching, Peter A.
Fridley, Brooke L.
Gao, Yu-Tang
Gentry-Maharaj, Aleksandra
Giles, Graham G.
Glasspool, Rosalind
Goodman, Marc T.
Gronwald, Jacek
Harter, Philipp
Hasmad, Hanis N.
Hein, Alexander
Heitz, Florian
Hildebrandt, Michelle A.T.
Hillemanns, Peter
Hogdall, Claus K.
Hogdall, Estrid
Hosono, Satoyo
Iversen, Edwin S.
Jakubowska, Anna
Jensen, Allan
Ji, Bu-Tian
Karlan, Beth Y.
Kellar, Melissa
Kiemeney, Lambertus A.
Krakstad, Camilla
Kjaer, Susanne K.
Kupryjanczyk, Jolanta
Vierkant, Robert A.
Lambrechts, Diether
Lambrechts, Sandrina
Le, Nhu D.
Lee, Alice W.
Lele, Shashi
Leminen, Arto
Lester, Jenny
Levine, Douglas A.
Liang, Dong
Lim, Boon Kiong
Lissowska, Jolanta
Lu, Karen
Lubinski, Jan
Lundvall, Lene
Massuger, Leon F.A.G.
Matsuo, Keitaro
McGuire, Valerie
McLaughlin, John R.
McNeish, Ian
Menon, Usha
Milne, Roger L.
Modugno, Francesmary
Thomsen, Lotte
Moysich, Kirsten B.
Ness, Roberta B.
Nevanlinna, Heli
Eilber, Ursula
Odunsi, Kunle
Olson, Sara H.
Orlow, Irene
Orsulic, Sandra
Palmieri Weber, Rachel
Paul, James
Pearce, Celeste L.
Pejovic, Tanja
Pelttari, Liisa M.
Pike, Malcolm C.
Risch, Harvey A.
Rosen, Barry
Rossing, Mary Anne
Rothstein, Joseph H.
Rudolph, Anja
Runnebaum, Ingo B.
Rzepecka, Iwona K.
Salvesen, Helga B.
Schwaab, Ira
Shu, Xiao-Ou
Shvetsov, Yurii B.
Siddiqui, Nadeem
Song, Honglin
Southey, Melissa C.
Spiewankiewicz, Beata
Sucheston-Campbell, Lara
Teo, Soo-Hwang
Thompson, Pamela J.
Tangen, Ingvild L.
van Altena, Anne M.
Vergote, Ignace
Walsh, Christine S.
Wang-Gohrke, Shan
Wentzensen, Nicolas
Whittemore, Alice S.
Wicklund, Kristine G.
Wilkens, Lynne R.
Wu, Anna H.
Wu, Xifeng
Woo, Yin-Ling
Yang, Hannah
Zheng, Wei
Ziogas, Argyrios
Amankwah, Ernest
Berchuck, Andrew
Schildkraut, Joellen M.
Kelemen, Linda E.
Ramus, Susan J.
Monteiro, Alvaro N.A.
Goode, Ellen L.
Narod, Steven A.
Gayther, Simon A.
Pharoah, Paul D. P.
Sellers, Thomas A.
Phelan, Catherine M.
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Jim, H. S., H. Lin, J. P. Tyrer, K. Lawrenson, J. Dennis, G. Chornokur, Z. Chen, et al. 2016. “Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).” Journal of genetics and genome research 2 (2): 017.Abstract
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.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722961/pdf/Terms of Use
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