Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions

To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five hi...

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Veröffentlicht in:	American journal of human genetics 2024-06, Vol.111 (6), p.1061-1083
Hauptverfasser:	Coetzee, Simon G., Tyrer, Jonathan P., Dezem, Felipe Segato, Seo, Ji-Heui, Reyes, Alberto L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aravantinos, Gerasimos, Bandera, Elisa V., Beane Freeman, Laura E., Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernardini, Marcus Q., Bjorge, Line, Bogdanova, Natalia V., Bolton, Kelly L., Brenton, James D., Butzow, Ralf, Cai, Hui, Campbell, Ian, Chanock, Stephen J., Chen, Kexin, Doherty, Jennifer A., Dörk, Thilo, du Bois, Andreas, Dürst, Matthias, Eccles, Diana M., Ene, Gabrielle, Flanagan, James M., Gentry-Maharaj, Aleksandra, Giles, Graham G., Goodman, Marc T., Haiman, Christopher A., Hildebrandt, Michelle A.T., Høgdall, Claus K., Huang, Ruea-Yea, Jones, Michael E., Karlan, Beth Y., Karnezis, Anthony N., Kennedy, Catherine J., Kiemeney, Lambertus A., Kjaer, Susanne K., Labrie, Marilyne, Lambrechts, Diether, Larson, Melissa C., Li, Lian, Lush, Michael, Matsuo, Keitaro, May, Taymaa, McLaughlin, John R., McNeish, Iain A., Menon, Usha, Modugno, Francesmary, Moffitt, Melissa, Moysich, Kirsten B., Nguyen-Dumont, Tu, Olsson, Håkan, Onland-Moret, N. Charlotte, Pejovic, Tanja, Permuth, Jennifer B., Piskorz, Anna, Prokofyeva, Darya, Riggan, Marjorie J., Risch, Harvey A., Rodríguez-Antona, Cristina, Rossing, Mary Anne, Sandler, Dale P., Setiawan, V. Wendy, Southey, Melissa C., Steed, Helen, Teo, Soo Hwang, Terry, Kathryn L., Thompson, Pamela J., Trabert, Britton, Travis, Ruth, Valen, Ellen, Van Nieuwenhuysen, Els, Vierkant, Robert A., Webb, Penelope M., Weinberg, Clarice R., Weise, Rayna Matsuno, Wentzensen, Nicolas, White, Emily, Winham, Stacey J., Wolk, Alicja, Woo, Yin-Ling, Yan, Li, Yannoukakos, Drakoulis, Zeinomar, Nur, Zheng, Wei, Berchuck, Andrew, Goode, Ellen L., Huntsman, David G., Sellers, Thomas A., Lawrenson, Kate, Schildkraut, Joellen M., Plummer, Jasmine T., Jones, Michelle R., Gayther, Simon A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Basic Medicine Cancer and Oncology Cancer och onkologi Carcinoma, Ovarian Epithelial - genetics Case-Control Studies Clinical Medicine epithelial ovarian cancer risk Female fine mapping functional mechanisms Genetic Predisposition to Disease Genome-Wide Association Study Genomics - methods GWAS Humans Klinisk medicin Medical and Health Sciences Medical Genetics Medicin och hälsovetenskap Medicinsk genetik Medicinska och farmaceutiska grundvetenskaper Multiomics Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Polymorphism, Single Nucleotide Risk Factors Transcriptome
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Zusammenfassung:	To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value
ISSN:	0002-9297 1537-6605 1537-6605
DOI:	10.1016/j.ajhg.2024.04.011