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1. Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.

Author

Madalene Earp, Jonathan P Tyrer, Stacey J Winham, Hui-Yi Lin, Ganna Chornokur, Joe Dennis, Katja K H Aben, Hoda Anton-Culver, Natalia Antonenkova, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Line Bjorge, Natalia Bogdanova, Louise A Brinton, Angela Brooks-Wilson, Fiona Bruinsma, 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, Evelyn Despierre, Jennifer A Doherty, Thilo Dörk, Andreas du Bois, Matthias Dürst, Douglas F Easton, Diana M Eccles, Robert P Edwards, Arif B Ekici, Peter A Fasching, Brooke L Fridley, Aleksandra Gentry-Maharaj, Graham G Giles, Rosalind Glasspool, Marc T Goodman, Jacek Gronwald, Philipp Harter, Alexander Hein, Florian Heitz, Michelle A T Hildebrandt, Peter Hillemanns, Claus K Hogdall, Estrid Høgdall, Satoyo Hosono, Edwin S Iversen, Anna Jakubowska, Allan Jensen, Bu-Tian Ji, Audrey Y Jung, Beth Y Karlan, Melissa Kellar, Lambertus A Kiemeney, Boon Kiong Lim, Susanne K Kjaer, Camilla Krakstad, Jolanta Kupryjanczyk, Diether Lambrechts, Sandrina Lambrechts, Nhu D Le, Shashi Lele, Jenny Lester, Douglas A Levine, Zheng Li, Dong Liang, 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, Kunle Odunsi, Sara H Olson, Irene Orlow, Sandra Orsulic, James Paul, Tanja Pejovic, Liisa M Pelttari, Jenny B Permuth, Malcolm C Pike, Elizabeth M Poole, Barry Rosen, Mary Anne Rossing, Joseph H Rothstein, Ingo B Runnebaum, Iwona K Rzepecka, Eva Schernhammer, Ira Schwaab, Xiao-Ou Shu, Yurii B Shvetsov, Nadeem Siddiqui, Weiva Sieh, Honglin Song, Melissa C Southey, Beata Spiewankiewicz, Lara Sucheston-Campbell, Ingvild L Tangen, Soo-Hwang Teo, Kathryn L Terry, Pamela J Thompson, Lotte Thomsen, Shelley S Tworoger, Anne M van Altena, Ignace Vergote, Liv Cecilie Vestrheim Thomsen, Robert A Vierkant, Christine S Walsh, Shan Wang-Gohrke, Nicolas Wentzensen, Alice S Whittemore, Kristine G Wicklund, Lynne R Wilkens, Yin-Ling Woo, Anna H Wu, Xifeng Wu, Yong-Bing Xiang, Hannah Yang, Wei Zheng, Argyrios Ziogas, Alice W Lee, Celeste L Pearce, Andrew Berchuck, Joellen M Schildkraut, Susan J Ramus, Alvaro N A Monteiro, Steven A Narod, Thomas A Sellers, Simon A Gayther, Linda E Kelemen, Georgia Chenevix-Trench, Harvey A Risch, Paul D P Pharoah, Ellen L Goode, and Catherine M Phelan

Subjects
Medicine, Science
Abstract

Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is intricately connected to small GTP binding proteins of the Ras superfamily (Ras, Rho, Rab, Arf, and Ran) which govern processes such as signal transduction, cell proliferation, cell motility, and vesicle transport. We hypothesized that common germline variation in genes encoding small GTPases is associated with EOC risk. We investigated 322 variants in 88 small GTPase genes in germline DNA of 18,736 EOC patients and 26,138 controls of European ancestry using a custom genotype array and logistic regression fitting log-additive models. Functional annotation was used to identify biofeatures and expression quantitative trait loci that intersect with risk variants. One variant, ARHGEF10L (Rho guanine nucleotide exchange factor 10 like) rs2256787, was associated with increased endometrioid EOC risk (OR = 1.33, p = 4.46 x 10-6). Other variants of interest included another in ARHGEF10L, rs10788679, which was associated with invasive serous EOC risk (OR = 1.07, p = 0.00026) and two variants in AKAP6 (A-kinase anchoring protein 6) which were associated with risk of invasive EOC (rs1955513, OR = 0.90, p = 0.00033; rs927062, OR = 0.94, p = 0.00059). Functional annotation revealed that the two ARHGEF10L variants were located in super-enhancer regions and that AKAP6 rs927062 was associated with expression of GTPase gene ARHGAP5 (Rho GTPase activating protein 5). Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with EOC risk, warrant investigation in independent EOC study populations.

Published
2018
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2. Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

Author

Andreas du Bois, Douglas F. Easton, Aleksandra Gentry-Maharaj, Heli Nevanlinna, Fiona Bruinsma, Iwona K. Rzepecka, Anna H. Wu, Jenny Chang-Claude, Jolanta Lissowska, Natalia Antonenkova, Beata Spiewankiewicz, Christine Walsh, Louise A. Brinton, Xifeng Wu, Leon F.A.G. Massuger, Audrey Y. Jung, Nadeem Siddiqui, Jenny Lester, Evelyn Despierre, Rosalind Glasspool, Jacek Gronwald, Claus Høgdall, Ellen L. Goode, Liisa M. Pelttari, Edwin S. Iversen, Alice S. Whittemore, Lynne R. Wilkens, Lene Lundvall, Robert P. Edwards, Natalia Bogdanova, Camilla Krakstad, Kunle Odunsi, Diana Eccles, Katja K.H. Aben, Weiva Sieh, Diether Lambrechts, Simon A. Gayther, Thomas A. Sellers, Satoyo Hosono, Yin Ling Woo, Jolanta Kupryjanczyk, Matthias W. Beckmann, Bu-Tian Ji, Shashi Lele, Pamela J. Thompson, Nicolas Wentzensen, Kirsten B. Moysich, Alice W. Lee, Kathryn L. Terry, Ira Schwaab, Estrid Høgdall, Yurii B. Shvetsov, Francesmary Modugno, Liv Cecilie Vestrheim Thomsen, Elizabeth M. Poole, Xiao-Ou Shu, Michelle A.T. Hildebrandt, Joellen M. Schildkraut, Arif B. Ekici, Hoda Anton-Culver, Philipp Harter, Celeste Leigh Pearce, Kristine G. Wicklund, Georgia Chenevix-Trench, Ralf Bützow, Eva S. Schernhammer, Madalene Earp, Roberta B. Ness, Steven A. Narod, James Paul, Tanja Pejovic, Soo-Hwang Teo, Florian Heitz, Catherine M. Phelan, Stacey J. Winham, Beth Y. Karlan, Susanne K. Kjaer, Sandrina Lambrechts, Jan Lubinski, Irene Orlow, Peter A. Fasching, Valerie McGuire, Lotte Ansgaard Thomsen, Joseph H. Rothstein, Honglin Song, Melissa Kellar, Usha Menon, Alvaro N.A. Monteiro, Ian G. Campbell, Hannah P. Yang, Graham G. Giles, Harvey A. Risch, Shan Wang-Gohrke, Linda E. Kelemen, Andrew Berchuck, Dong Liang, Karen Lu, Elisa V. Bandera, Robert A. Vierkant, John R. McLaughlin, Peter Hillemanns, Alexander Hein, Julie M. Cunningham, Daniel W. Cramer, Yukie Bean, Clareann H. Bunker, Brooke L. Fridley, Jennifer A. Doherty, Mary Anne Rossing, Joe Dennis, Shelley S. Tworoger, Allan Jensen, Thilo Dörk, Douglas A. Levine, Wei Zheng, Yong-Bing Xiang, Matthias Dürst, Agnieszka Dansonka-Mieszkowska, Melissa C. Southey, Keitaro Matsuo, Anna Jakubowska, Paul D.P. Pharoah, Lambertus A. Kiemeney, Lara E. Sucheston-Campbell, Boon Kiong Lim, Sara H. Olson, Angela Brooks-Wilson, Ingo B. Runnebaum, Zheng Li, Jenny B. Permuth, Roger L. Milne, Barry P. Rosen, Iain A. McNeish, Argyrios Ziogas, Hui Yi Lin, Sandra Orsulic, Nhu D. Le, Malcolm C. Pike, Linda S. Cook, Line Bjørge, Karen Carty, Cezary Cybulski, Ganna Chornokur, Jonathan Tyrer, Susan J. Ramus, Anne M. van Altena, Marc T. Goodman, Ignace Vergote, Ingvild L. Tangen, Department of Pathology, Clinicum, University of Helsinki, Department of Obstetrics and Gynecology, Medicum, Doctoral Programme in Biomedicine, Scott, Rodney John, Dennis, Joe [0000-0003-4591-1214], Bruinsma, Fiona [0000-0002-9356-2015], Cunningham, Julie M [0000-0002-8159-3025], Giles, Graham G [0000-0003-4946-9099], Jakubowska, Anna [0000-0002-5650-0501], Li, Zheng [0000-0002-6141-4990], Sellers, Thomas A [0000-0002-7832-0405], Pharoah, Paul DP [0000-0001-8494-732X], Goode, Ellen L [0000-0002-9094-8326], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, endocrine system diseases, Hydrolases, Cell Membranes, Gene Expression, A Kinase Anchor Proteins, lcsh:Medicine, Genome-wide association study, GTPase, Carcinoma, Ovarian Epithelial, Biochemistry, Signaling Molecules, Cell Signaling, Risk Factors, 3123 Gynaecology and paediatrics, Medizinische Fakultät, GTPase Gene, Medicine and Health Sciences, Guanine Nucleotide Exchange Factors, Small GTPase, lcsh:Science, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Multidisciplinary, Invasive Tumors, Genomics, A Kinase Anchor Proteins/genetics, Polymorphism, Single Nucleotide/genetics, female genital diseases and pregnancy complications, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 3. Good health, Enzymes, Multidisciplinary Sciences, Carcinoma, Ovarian Epithelial/genetics, Oncology, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Science & Technology - Other Topics, Female, Guanine nucleotide exchange factor, Cellular Structures and Organelles, Anatomy, TRAITS, Research Article, Signal Transduction, Histology, Genotype, CARCINOMA, General Science & Technology, Rho GTPase-Activating Protein 5, Quantitative Trait Loci, 3122 Cancers, Ras Signaling, Biology, Polymorphism, Single Nucleotide, Monomeric GTP-Binding Proteins/genetics, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, GTP-binding protein regulators, MD Multidisciplinary, Genome-Wide Association Studies, Genetics, Humans, Gene Regulation, Genetic Predisposition to Disease, ddc:610, GENOME-WIDE ASSOCIATION, Rho Guanine Nucleotide Exchange Factors/genetics, Genetic Association Studies, Monomeric GTP-Binding Proteins, Science & Technology, lcsh:R, Biology and Life Sciences, Proteins, Membrane Proteins, Computational Biology, Cancers and Neoplasms, Human Genetics, Cell Biology, Genome Analysis, SUPER-ENHANCERS, Guanosine Triphosphatase, 030104 developmental biology, Cancer research, Enzymology, lcsh:Q, 3111 Biomedicine, Ras superfamily, Quantitative Trait Loci/genetics, Rho Guanine Nucleotide Exchange Factors
Abstract

Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is intricately connected to small GTP binding proteins of the Ras superfamily (Ras, Rho, Rab, Arf, and Ran) which govern processes such as signal transduction, cell proliferation, cell motility, and vesicle transport. We hypothesized that common germline variation in genes encoding small GTPases is associated with EOC risk. We investigated 322 variants in 88 small GTPase genes in germline DNA of 18,736 EOC patients and 26,138 controls of European ancestry using a custom genotype array and logistic regression fitting log-additive models. Functional annotation was used to identify biofeatures and expression quantitative trait loci that intersect with risk variants. One variant, ARHGEF10L (Rho guanine nucleotide exchange factor 10 like) rs2256787, was associated with increased endometrioid EOC risk (OR = 1.33, p = 4.46 x 10-6). Other variants of interest included another in ARHGEF10L, rs10788679, which was associated with invasive serous EOC risk (OR = 1.07, p = 0.00026) and two variants in AKAP6 (A-kinase anchoring protein 6) which were associated with risk of invasive EOC (rs1955513, OR = 0.90, p = 0.00033; rs927062, OR = 0.94, p = 0.00059). Functional annotation revealed that the two ARHGEF10L variants were located in super-enhancer regions and that AKAP6 rs927062 was associated with expression of GTPase gene ARHGAP5 (Rho GTPase activating protein 5). Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with EOC risk, warrant investigation in independent EOC study populations. ispartof: PLOS ONE vol:13 issue:7 ispartof: location:United States status: published

Published
2018
Full Text
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