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2022 Journal Article The splicing effect of variants at branchpoint elements in cancer genesCanson, Daffodil M., Dumenil, Troy, Parsons, Michael T., O'Mara, Tracy A., Davidson, Aimee L., Okano, Satomi, Signal, Bethany, Mercer, Tim R., Glubb, Dylan M. and Spurdle, Amanda B. (2022). The splicing effect of variants at branchpoint elements in cancer genes. Genetics in Medicine, 24 (2), 398-409. doi: 10.1016/j.gim.2021.09.020 |
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2021 Journal Article Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibilityKho, Pik Fang, Wang, Xuemin, Cuéllar-Partida, Gabriel, Dörk, Thilo, Goode, Ellen L., Lambrechts, Diether, Scott, Rodney J., Spurdle, Amanda B., O’Mara, Tracy A. and Glubb, Dylan M. (2021). Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility. Communications Biology, 4 (1) 1211, 1211. doi: 10.1038/s42003-021-02745-3 |
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2021 Journal Article Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locusKho, Pik Fang, Mortlock, Sally, Endometrial Cancer Association Consortium , International Endometriosis Genetics Consortium, Rogers, Peter A. W., Nyholt, Dale R., Montgomery, Grant W., Spurdle, Amanda B., Glubb, Dylan M. and O'Mara, Tracy A. (2021). Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus. Human Genetics, 140 (9), 1353-1365. doi: 10.1007/s00439-021-02312-0 |
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2021 Journal Article Identification of a locus near ULK1 associated with progression-free survival in ovarian cancerQuinn, Michael CJ, McCue, Karen, Shi, Wei, Johnatty, Sharon E., Beesley, Jonathan, Civitarese, Andrew, O'Mara, Tracy A, Glubb, Dylan M, Tyrer, Jonathan P, Armasu, Sebastian M., Ong, Jue-Sheng, Gharahkhani, Puya, Lu, Yi, Gao, Bo, Patch, Ann-Marie, Fasching, Peter A., Beckmann, Matthias W., Lambrechts, Diether, Vergote, Ignace, Velez Edwards, Digna, Beeghly-Fadiel, Alicia, Benitez, Javier, Garcia, Maria J, Goodman, Marc T., Dork, Thilo, Durst, Matthias, Modugno, Francesmary, Moysich, Kirsten, du Bois, Andreas ... Chenevix-Trench, Georgia (2021). Identification of a locus near ULK1 associated with progression-free survival in ovarian cancer. Cancer Epidemiology Biomarkers and Prevention, 30 (9), 1669-1680. doi: 10.1158/1055-9965.epi-20-1817 |
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2021 Journal Article Associations between genetically predicted circulating protein concentrations and endometrial cancer riskZhu, Jingjing, O’mara, Tracy A., Liu, Duo, Setiawan, Veronica Wendy, Glubb, Dylan, Spurdle, Amanda B., Fasching, Peter A., Lambrechts, Diether, Buchanan, Daniel, Kho, Pik Fang, Cook, Linda S., Friedenreich, Christine, Lacey, James V., Chen, Chu, Wentzensen, Nicolas, De Vivo, Immaculata, Sun, Yan, Long, Jirong, Du, Mengmeng, Shu, Xiao-Ou, Zheng, Wei, Wu, Lang and Yu, Herbert (2021). Associations between genetically predicted circulating protein concentrations and endometrial cancer risk. Cancers, 13 (9) 2088, 2088. doi: 10.3390/cancers13092088 |
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2021 Journal Article Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancerKho, Pik-Fang, Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L., Beckmann, Matthias W., Black, Amanda, Brinton, Louise, Buchanan, Daniel D., Chanock, Stephen J., Chen, Chu, Chen, Maxine M., Cheng, Timothy H. T., Cook, Linda S., Crous-Bous, Marta, Czene, Kamila, De Vivo, Immaculata, Dennis, Joe, Dörk, Thilo, Dowdy, Sean C., Dunning, Alison M., Dürst, Matthias, Easton, Douglas F., Ekici, Arif B., Fasching, Peter A., Fridley, Brooke L., Friedenreich, Christine M., García-Closas, Montserrat ... O'Mara, Tracy A. (2021). Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer. International Journal of Cancer, 148 (2), 307-319. doi: 10.1002/ijc.33206 |
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2021 Journal Article Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancersGlubb, Dylan M, Thompson, Deborah J, Aben, Katja KH, Alsulimani, Ahmad, Amant, Frédéric, Annibali, Daniela, Attia, John, Barricarte, Aurelio, Beckmann, Matthias W., Berchuck, Andrew, Bermisheva, Marina, Bernardini, Marcus Q., Bischof, Katharina, Bjørge, Line, Bodelon, Clara, Brand, Alison H, Brenton, James D., Brinton, Louise A., Bruinsma, Fiona, Buchanan, Daniel D., Burghaus, Stefanie, Bützow, Ralf, Cai, Hui, Carney, Michael E., Chanock, Stephen J., Chen, Chu, Chen, Xiaoqing, Chen, Zhihua, Cook, Linda S. ... O'Mara, Tracy A (2021). Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers. Cancer Epidemiology Biomarkers & Prevention, 30 (1), 217-228. doi: 10.1158/1055-9965.epi-20-0739 |
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2021 Journal Article The Impact of Variants at Branchpoint Splicing Elements in Cancer GenesCanson, Daffodil, Dumenil, Troy, Parsons, Michael, O’Mara, Tracy, Davidson, Aimee , Okano, Satomi , Signal, Bethany , Mercer, Tim, Glubb, Dylan and Spurdle, Amanda (2021). The Impact of Variants at Branchpoint Splicing Elements in Cancer Genes. SSRN Electronic Journal, 24 (2), 398-409. doi: 10.2139/ssrn.3933049 |
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2020 Conference Publication Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer riskO'Mara, T. A., Kho, P., Mortlock, S., Montgomery, G. W., Spurdle, A. B. and Glubb, D. M. (2020). Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer risk. LONDON: SPRINGERNATURE. |
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2020 Journal Article Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsCanson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2020). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 41 (10) humu.24074, 1705-1721. doi: 10.1002/humu.24074 |
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2020 Journal Article Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndromeDrost, Mark, Tiersma, Yvonne, Glubb, Dylan, Kathe, Scott, van Hees, Sandrine, Calléja, Fabienne, Zonneveld, José B. M., Boucher, Kenneth M., Ramlal, Renuka P. E., Thompson, Bryony A., Rasmussen, Lene Juel, Greenblatt, Marc S., Lee, Andrea, Spurdle, Amanda B., Tavtigian, Sean V. and de Wind, Niels (2020). Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. Genetics in Medicine, 22 (5), 847-856. doi: 10.1038/s41436-019-0736-2 |
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2020 Journal Article Candidate causal variants at the 8p12 breast cancer risk locus regulate DUSP4Glubb, Dylan M., Shi, Wei, Beesley, Jonathan, Fachal, Laura, Pritchard, Jayne-Louise, McCue, Karen, Barnes, Daniel R., Antoniou, Antonis C., Dunning, Alison M., Easton, Douglas F. and Chenevix-Trench, Georgia (2020). Candidate causal variants at the 8p12 breast cancer risk locus regulate DUSP4. Cancers, 12 (1) 170, 170. doi: 10.3390/cancers12010170 |
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2019 Journal Article Analysis of promoter-associated chromatin interactions reveals biologically relevant candidate target genes at endometrial cancer risk lociO’Mara, Tracy A., Spurdle, Amanda B. and Glubb, Dylan M. (2019). Analysis of promoter-associated chromatin interactions reveals biologically relevant candidate target genes at endometrial cancer risk loci. Cancers, 11 (10) 1440, 1440. doi: 10.3390/cancers11101440 |
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2019 Journal Article Genome-wide association studies of endometrial cancer: latest developments and future directionsO'Mara, Tracy A., Glubb, Dylan M., Kho, Pik Fang, Thompson, Deborah J. and Spurdle, Amanda B. (2019). Genome-wide association studies of endometrial cancer: latest developments and future directions. Cancer Epidemiology Biomarkers and Prevention, 28 (7), 1095-1102. doi: 10.1158/1055-9965.epi-18-1031 |
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2019 Journal Article A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndromeDrost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska, Zonneveld, José B., van Asperen, Christi J., Goldgar, David E., Wallace, Susan S., Sijmons, Rolf H., Spurdle, Amanda B., Rasmussen, Lene J., Greenblatt, Marc S., de Wind, Niels and Tavtigian, Sean V. (2019). A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome. Genetics in Medicine, 21 (7), 1486-1496. doi: 10.1038/s41436-018-0372-2 |
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2019 Journal Article Assessing the role of selenium in endometrial cancer risk: a Mendelian randomization studyKho, Pik Fang, Glubb, Dylan M., Thompson, Deborah J., Spurdle, Amanda B. and O'Mara, Tracy A. (2019). Assessing the role of selenium in endometrial cancer risk: a Mendelian randomization study. Frontiers in Oncology, 9 (MAR) 182. doi: 10.3389/fonc.2019.00182 |
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2019 Journal Article Editorial: establishing genetic pleiotropy to identify common pharmacological agents for common diseasesO'Mara, Tracy A., Batra, Jyotsna and Glubb, Dylan (2019). Editorial: establishing genetic pleiotropy to identify common pharmacological agents for common diseases. Frontiers in Pharmacology, 10 1038. doi: 10.3389/fphar.2019.01038 |
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2019 Journal Article Genetic variants of VEGFA and FLT4 are determinants of survival in renal cell carcinoma patients treated with sorafenibCrona, Daniel J., Skol, Andrew D., Leppänen, Veli-Matti, Glubb, Dylan M., Etheridge, Amy S., Hilliard, Eleanor, Peña, Carol E., Peterson, Yuri K., Klauber-DeMore, Nancy, Alitalo, Kari K. and Innocenti, Federico (2019). Genetic variants of VEGFA and FLT4 are determinants of survival in renal cell carcinoma patients treated with sorafenib. Cancer Research, 79 (1), 231-241. doi: 10.1158/0008-5472.can-18-1089 |
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2018 Journal Article Identification of nine new susceptibility loci for endometrial cancerO’Mara, Tracy A., Glubb, Dylan M., Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L., Beckmann, Matthias W., Black, Amanda, Bolla, Manjeet K., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Buchanan, Daniel D., Burwinkel, Barbara, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Chu, Chen, Maxine M., Cheng, Timothy H. T., Clarke, Christine L., Clendenning, Mark, Cook, Linda S., Couch, Fergus J., Cox, Angela, Crous-Bous, Marta, Czene, Kamila, Day, Felix, Dennis, Joe ... Thompson, Deborah J. (2018). Identification of nine new susceptibility loci for endometrial cancer. Nature Communications, 9 (1) 3166, 3166. doi: 10.1038/s41467-018-05427-7 |
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2018 Journal Article The Vitamin D receptor gene as a determinant of survival in pancreatic cancer patients: Genomic analysis and experimental validationInnocenti, Federico, Owzar, Kouros, Jiang, Chen, Etheridge, Amy S., Gordân, Raluca, Sibley, Alexander B., Mulkey, Flora, Niedzwiecki, Donna, Glubb, Dylan, Neel, Nicole, Talamonti, Mark S., Bentrem, David J., Seiser, Eric, Yeh, Jen Jen, Van Loon, Katherine, McLeod, Howard, Ratain, Mark J., Kindler, Hedy L., Venook, Alan P., Nakamura, Yusuke, Kubo, Michiaki, Petersen, Gloria M., Bamlet, William R. and McWilliams, Robert R. (2018). The Vitamin D receptor gene as a determinant of survival in pancreatic cancer patients: Genomic analysis and experimental validation. PLoS One, 13 (8) e0202272, 1-14. doi: 10.1371/journal.pone.0202272 |
