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Start Over Author "Ann Y Chen" Topic genetic variation
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1. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)

Author

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

Subjects
endocrine system, 0303 health sciences, media_common.quotation_subject, Single-nucleotide polymorphism, Biology, medicine.disease, Bioinformatics, Article, 03 medical and health sciences, PER3, 0302 clinical medicine, CSNK1E, 030220 oncology & carcinogenesis, Genotype, Genetic variation, Cancer research, medicine, Circadian rhythm, Ovarian cancer, Ovulation, 030304 developmental biology, media_common
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. ispartof: Journal of Genetics and Genome Research vol:2 issue:2 pages:017- ispartof: location:United States status: published

Published
2015
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2. Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

Author

Ganna Chornokur, Hui-Yi Lin, Jonathan P Tyrer, Kate Lawrenson, Joe Dennis, Ernest K Amankwah, Xiaotao Qu, Ya-Yu Tsai, Heather S L Jim, Zhihua Chen, Ann Y Chen, Jennifer Permuth-Wey, Katja K H Aben, Hoda Anton-Culver, Natalia Antonenkova, Fiona Bruinsma, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise A Brinton, Angela Brooks-Wilson, Clareann H Bunker, Ralf Butzow, Ian G Campbell, Karen Carty, Jenny Chang-Claude, Linda S Cook, Daniel W Cramer, Julie M Cunningham, Cezary Cybulski, Agnieszka Dansonka-Mieszkowska, Andreas du Bois, Evelyn Despierre, Ed Dicks, Jennifer A Doherty, Thilo Dörk, Matthias Dürst, Douglas F Easton, Diana M Eccles, Robert P Edwards, Arif B Ekici, Peter A Fasching, Brooke L Fridley, Yu-Tang Gao, Aleksandra Gentry-Maharaj, Graham G Giles, Rosalind Glasspool, Marc T Goodman, Jacek Gronwald, Patricia Harrington, Philipp Harter, Alexander Hein, Florian Heitz, Michelle A T Hildebrandt, Peter Hillemanns, Claus K Hogdall, Estrid Hogdall, Satoyo Hosono, Anna Jakubowska, Allan Jensen, Bu-Tian Ji, Beth Y Karlan, Linda E Kelemen, Mellissa Kellar, Lambertus A Kiemeney, Camilla Krakstad, Susanne K Kjaer, Jolanta Kupryjanczyk, Diether Lambrechts, Sandrina Lambrechts, Nhu D Le, Alice W Lee, Shashi Lele, Arto Leminen, Jenny Lester, Douglas A Levine, Dong Liang, Boon Kiong Lim, Jolanta Lissowska, Karen Lu, Jan Lubinski, Lene Lundvall, Leon F A G Massuger, Keitaro Matsuo, Valerie McGuire, John R McLaughlin, Iain McNeish, Usha Menon, Roger L Milne, Francesmary Modugno, Kirsten B Moysich, Roberta B Ness, Heli Nevanlinna, Ursula Eilber, Kunle Odunsi, Sara H Olson, Irene Orlow, Sandra Orsulic, Rachel Palmieri Weber, James Paul, Celeste L Pearce, Tanja Pejovic, Liisa M Pelttari, Malcolm C Pike, Elizabeth M Poole, Harvey A Risch, Barry Rosen, Mary Anne Rossing, Joseph H Rothstein, Anja Rudolph, Ingo B Runnebaum, Iwona K Rzepecka, Helga B Salvesen, Eva Schernhammer, Ira Schwaab, Xiao-Ou Shu, Yurii B Shvetsov, Nadeem Siddiqui, Weiva Sieh, Honglin Song, Melissa C Southey, Beata Spiewankiewicz, Lara Sucheston, Soo-Hwang Teo, Kathryn L Terry, Pamela J Thompson, Lotte Thomsen, Ingvild L Tangen, Shelley S Tworoger, Anne M van Altena, Robert A Vierkant, Ignace Vergote, Christine S Walsh, Shan Wang-Gohrke, Nicolas Wentzensen, Alice S Whittemore, Kristine G Wicklund, Lynne R Wilkens, Anna H Wu, Xifeng Wu, Yin-Ling Woo, Hannah Yang, Wei Zheng, Argyrios Ziogas, Hanis N Hasmad, Andrew Berchuck, Georgia Chenevix-Trench, AOCS management group, Edwin S Iversen, Joellen M Schildkraut, Susan J Ramus, Ellen L Goode, Alvaro N A Monteiro, Simon A Gayther, Steven A Narod, Paul D P Pharoah, Thomas A Sellers, Catherine M Phelan, Agoulnik, Irina U, Department of Pathology, Medicum, Department of Obstetrics and Gynecology, Clinicum, and HUS Gynecology and Obstetrics

Subjects
endocrine system diseases, lcsh:Medicine, Genome-wide association study, Carcinoma, Ovarian Epithelial, Bioinformatics, 0302 clinical medicine, 3123 Gynaecology and paediatrics, Neoplasms, Ovarian Epithelial, Odds Ratio, 2.1 Biological and endogenous factors, Neoplasms, Glandular and Epithelial, Aetiology, lcsh:Science, FAMILY SLC25, Cancer, Ovarian Neoplasms, African Americans, 0303 health sciences, Multidisciplinary, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], COLON-CANCER, Glandular and Epithelial, Single Nucleotide, 3. Good health, Ovarian Cancer, Serous fluid, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Female, HEPHAESTIN, Research Article, EXPRESSION, Risk, medicine.medical_specialty, CARCINOMA, General Science & Technology, 3122 Cancers, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Georgia Chenevix-Trench, 03 medical and health sciences, Rare Diseases, Molecular genetics, medicine, Carcinoma, Genetics, SNP, BREAST-CANCER, Humans, Genetic Predisposition to Disease, Hormone transport, UDP-GLUCURONOSYLTRANSFERASES, GENOME-WIDE ASSOCIATION, Polymorphism, Alleles, Genetic Association Studies, 030304 developmental biology, Asian, lcsh:R, IRON TRANSPORT, Genetic Variation, Biological Transport, medicine.disease, POLYMORPHISM, Black or African American, Asian Americans, Case-Control Studies, Cancer research, lcsh:Q, 3111 Biomedicine, Ovarian cancer, AOCS management group, Carrier Proteins, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 154822.PDF (Publisher’s version ) (Open Access) BACKGROUND: Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which in turn may promote the formation of reactive oxygen species, promoting DNA damage and aberrant expression of key regulatory cancer genes. As DNA damage and uncontrolled proliferation are hallmarks of cancer, including epithelial ovarian cancer (EOC), we hypothesized that inherited variation in the cellular transport genes contributes to EOC risk. METHODS: In total, DNA samples were obtained from 14,525 case subjects with invasive EOC and from 23,447 controls from 43 sites in the Ovarian Cancer Association Consortium (OCAC). Two hundred seventy nine SNPs, representing 131 genes, were genotyped using an Illumina Infinium iSelect BeadChip as part of the Collaborative Oncological Gene-environment Study (COGS). SNP analyses were conducted using unconditional logistic regression under a log-additive model, and the FDR q

Published
2015
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