Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

Autor: Kho, P-F, Amant, F, Annibali, D, Ashton, K, Attia, J, Auer, PL, Beckmann, MW, Black, A, Brinton, L, Buchanan, DD, Chen, C, Chen, MM, Cheng, THT, Cook, LS, Crous-Bous, M, Czene, K, De Vivo, I, Dennis, J, Dörk, T, Dowdy, SC, Dunning, AM, Dürst, M, Easton, DF, Ekici, AB, Fasching, PA, Fridley, BL, Friedenreich, CM, García-Closas, M, Gaudet, MM, Giles, GG, Goode, EL, Gorman, M, Haiman, CA, Hall, P, Hankison, SE, Hein, A, Hillemanns, P, Hodgson, S, Hoivik, EA, Holliday, EG, Hunter, DJ, Jones, A, Kraft, P, Krakstad, C, Lambrechts, D, Le Marchand, L, Liang, X, Lindblom, A, Lissowska, J, Long, J, Lu, L, Magliocco, AM, Martin, L, McEvoy, M, Milne, RL, Mints, M, Nassir, R, Otton, G, Palles, C, Pooler, L, Proietto, T, Rebbeck, TR, Renner, SP, Risch, HA, Rübner, M, Runnebaum, I, Sacerdote, C, Sarto, GE, Schumacher, F, Scott, RJ, Setiawan, VW, Shah, M, Sheng, X, Shu, X-O, Southey, MC, Tham, E, Tomlinson, I, Trovik, J, Turman, C, Tyrer, JP, Van Den Berg, D, Wang, Z, Wentzensen, N, Xia, L, Xiang, Y-B, Yang, HP, Yu, H, Zheng, W, Webb, PM, Thompson, DJ, Spurdle, AB, Glubb, DM, O'Mara, TA

Blood lipids have been associated with the development of a range of cancers, including breast, lung and colorectal cancer. For endometrial cancer, observational studies have reported inconsistent associations between blood lipids and cancer risk. To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6c0cf6252663c976386ad57141ccbec8
https://openaccess.sgul.ac.uk/id/eprint/112317/1/Kho_ECAC_lipid_MR_manuscript_2020-07-07.doc

Five endometrial cancer risk loci identified through genome-wide association analysis

Autor: Cheng, THT, Thompson, DJ, O'Mara, TA, Painter, JN, Glubb, DM, Flach, S, Lewis, A, French, JD, Freeman-Mills, L, Church, D, Gorman, M, Martin, L, National Study of Endometrial Cancer Genetics Group (NSECG), Hodgson, S, Webb, PM, Australian National Endometrial Cancer Study Group (ANECS), Attia, J, Holliday, EG, McEvoy, M, Scott, RJ, Henders, AK, Martin, NG, Montgomery, GW, Nyholt, DR, Ahmed, S, Healey, CS, Shah, M, Dennis, J, Fasching, PA, Beckmann, MW, Hein, A, Ekici, AB, Hall, P, Czene, K, Darabi, H, Li, J, Dörk, T, Dürst, M, Hillemanns, P, Runnebaum, I, Amant, F, Schrauwen, S, Zhao, H, Lambrechts, D, Depreeuw, J, Dowdy, SC, Goode, EL, Fridley, BL, Winham, SJ, Njølstad, TS, Salvesen, HB, Trovik, J, Werner, HMJ, Ashton, K, Otton, G, Proietto, T, Liu, T, Mints, M, Tham, E, RENDOCAS, CHIBCHA Consortium, Li, MJ, Yip, SH, Wang, J, Bolla, MK, Michailidou, K, Wang, Q, Tyrer, JP, Dunlop, M, Houlston, R, Palles, C, Hopper, JL, AOCS Group, Peto, J, Swerdlow, AJ, Burwinkel, B, Brenner, H, Meindl, A, Brauch, H, Lindblom, A, Chang-Claude, J, Couch, FJ, Giles, GG, Kristensen, VN, Cox, A, Cunningham, JM, Pharoah, PDP, Dunning, AM, Edwards, SL, Easton, DF, Tomlinson, I, Spurdle, AB

Publikováno v: Nature Genetics

We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::adc9037f5b68ccd4fb6d96ab697f2376
https://researchonline.lshtm.ac.uk/id/eprint/2551460/1/Cheng_etal_2016_Five_endometrial_cancer_risk_loci_identified_through_genome_wide_association_analysis.pdf

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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Autor: Davidson AL; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Dressel U; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Norris S; Faculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14), Sydney, NSW, 2006, Australia., Canson DM; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Glubb DM; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Fortuno C; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Hollway GE; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Parsons MT; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Vidgen ME; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Australian Genomics, Melbourne, VIC, Australia., Holmes O; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Koufariotis LT; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Lakis V; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Leonard C; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Wood S; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Xu Q; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., McCart Reed AE; Centre for Clinical Research, University of Queensland, Brisbane, QLD, Australia., Pickett HA; Children's Medical Research Institute, University of Sydney, Westmead, NSW, Australia., Al-Shinnag MK; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Austin RL; Australian Genomics, Melbourne, VIC, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Burke J; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia., Cops EJ; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia., Nichols CB; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Goodwin A; Cancer Genetics Department, Royal Prince Alfred Hospital, Sydney, NSW, Australia.; University of Sydney, Sydney, NSW, Australia., Harris MT; Monash Health Familial Cancer, Monash Health, Melbourne, VIC, Australia.; Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia., Higgins MJ; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Ip EL; Cancer Genetics, Liverpool Hospital, Sydney, NSW, Australia., Kiraly-Borri C; Department of Health, Genetic Services of WA, Subiaco, WA, Australia., Lau C; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Genomics, Pathology Queensland, Brisbane, QLD, Australia., Mansour JL; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia., Millward MW; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia., Monnik MJ; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Pachter NS; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia., Ragunathan A; Familial Cancer Services, The Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia., Susman RD; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Townshend SL; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Trainer AH; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia., Troth SL; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Tucker KM; Prince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Sydney, NSW, Australia.; Hereditary Cancer Centre, Prince of Wales Hospital, Sydney, NSW, Australia., Wallis MJ; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Walsh M; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia., Williams RA; Prince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Sydney, NSW, Australia.; Hereditary Cancer Centre, Prince of Wales Hospital, Sydney, NSW, Australia., Winship IM; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia.; Genomic Medicine and Familial Cancer Clinic, Royal Melbourne Hospital, Melbourne, VIC, Australia., Newell F; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Tudini E; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Australian Genomics, Melbourne, VIC, Australia., Pearson JV; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia., Poplawski NK; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia., Mar Fan HG; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia., Spurdle AB; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia. amanda.spurdle@qimrberghofer.edu.au.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. amanda.spurdle@qimrberghofer.edu.au., Waddell N; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia., Ward RL; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. robyn.ward@sydney.edu.au.; Faculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14), Sydney, NSW, 2006, Australia. robyn.ward@sydney.edu.au.

Publikováno v: Genome medicine [Genome Med] 2023 Sep 19; Vol. 15 (1), pp. 74. Date of Electronic Publication: 2023 Sep 19.

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.

Autor: Canson DM; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia.; Faculty of Medicine, The University of Queensland, Herston, QLD 4006, Australia., Davidson AL; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia., de la Hoya M; Molecular Oncology Laboratory CIBERONC, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Hospital Clinico San Carlos, 28040 Madrid, Spain., Parsons MT; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia., Glubb DM; Faculty of Medicine, The University of Queensland, Herston, QLD 4006, Australia.; Cancer Research Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia., Kondrashova O; Cancer Research Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia.; Faculty of Medicine, The University of Queensland, Herston, QLD 4006, Australia.

Publikováno v: Bioinformatics (Oxford, England) [Bioinformatics] 2023 Apr 03; Vol. 39 (4).