RT Journal Article
SR Electronic
T1 Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers.
JF Cancer Epidemiology Biomarkers & Prevention
JO Cancer Epidemiol Biomarkers Prev
FD American Association for Cancer Research
SP cebp.0739.2020
DO 10.1158/1055-9965.EPI-20-0739
A1 Glubb, Dylan M
A1 Thompson, Deborah J
A1 Aben, Katja KH
A1 Alsulimani, Ahmad
A1 Amant, Frédéric
A1 Annibali, Daniela
A1 Attia, John
A1 Barricarte, Aurelio
A1 Beckmann, Matthias W.
A1 Berchuck, Andrew
A1 Bermisheva, Marina
A1 Bernardini, Marcus Q.
A1 Bischof, Katharina
A1 Bjørge, Line
A1 Bodelon, Clara
A1 Brand, Alison H
A1 Brenton, James D.
A1 Brinton, Louise A.
A1 Bruinsma, Fiona
A1 Buchanan, Daniel D.
A1 Burghaus, Stefanie
A1 Bützow, Ralf
A1 Cai, Hui
A1 Carney, Michael E.
A1 Chanock, Stephen J.
A1 Chen, Chu
A1 Chen, Xiaoqing
A1 Chen, Zhihua
A1 Cook, Linda S.
A1 Cunningham, Julie M.
A1 De Vivo, Immaculata
A1 DeFazio, Anna
A1 Doherty, Jennifer A.
A1 Dork, Thilo
A1 du Bois, Andreas
A1 Dunning, Alison M
A1 Durst, Matthias
A1 Edwards, Todd
A1 Edwards, Robert P.
A1 Ekici, Arif B.
A1 Ewing, Ailith
A1 Fasching, Peter A.
A1 Ferguson, Sarah
A1 Flanagan, James M.
A1 Fostira, Florentia
A1 Fountzilas, George
A1 Friedenreich, Christine M.
A1 Gao, Bo
A1 Gaudet, Mia M.
A1 Gawełko, Jan
A1 Gentry-Maharaj, Aleksandra
A1 Giles, Graham G.
A1 Glasspool, Rosalind
A1 Goodman, Marc T.
A1 Gronwald, Jacek
A1 Harris, Holly R
A1 Harter, Philipp
A1 Hein, Alexander
A1 Heitz, Florian
A1 Hildebrandt, Michelle A.T.
A1 Hillemanns, Peter
A1 Høgdall, Estrid
A1 Høgdall, Claus K.
A1 Holliday, Elizabeth G
A1 Huntsman, David G.
A1 Huzarski, Tomasz
A1 Jakubowska, Anna
A1 Jensen, Allan
A1 Jones, Michael E.
A1 Karlan, Beth Y.
A1 Karnezis, Anthony
A1 Kelley, Joseph L
A1 Khusnutdinova, Elza
A1 Killeen, Jeffrey L.
A1 Kjaer, Susanne K.
A1 Klapdor, Rüdiger
A1 Köbel, Martin
A1 Konopka, Bozena
A1 Konstantopoulou, Irene
A1 Kopperud, Reidun K.
A1 Koti, Madhuri
A1 Kraft, Peter
A1 Kupryjanczyk, Jolanta
A1 Lambrechts, Diether
A1 Larson, Melissa C.
A1 Le Marchand, Loic
A1 Lele, Shashikant
A1 Lester, Jenny
A1 Li, Andrew J
A1 Liang, Dong
A1 Liebrich, Clemens
A1 Lipworth, Loren
A1 Lissowska, Jolanta
A1 Lu, Lingeng
A1 Lu, Karen H.
A1 Macciotta, Alessandra
A1 Mattiello, Amalia
A1 May, Taymaa
A1 McAlpine, Jessica N.
A1 McGuire, Valerie
A1 McNeish, Iain A.
A1 Menon, Usha
A1 Modugno, Francesmary
A1 Moysich, Kirsten B.
A1 Nevanlinna, Heli
A1 Odunsi, Kunle
A1 Olsson, Håkan
A1 Orsulic, Sandra
A1 Osorio, Ana
A1 Palli, Domenico
A1 Park-Simon, Tjoung-Won
A1 Pearce, Celeste L.
A1 Pejovic, Tanja
A1 Permuth, Jennifer B
A1 Podgorska, Agnieszka
A1 Ramus, Susan J.
A1 Rebbeck, Timothy R.
A1 Riggan, Marjorie J.
A1 Risch, Harvey A.
A1 Rothstein, Joseph H.
A1 Runnebaum, Ingo B.
A1 Scott, Rodney J.
A1 Sellers, Thomas A.
A1 Senz, Janine
A1 Setiawan, Veronica Wendy
A1 Siddiqui, Nadeem
A1 Sieh, Weiva
A1 Spiewankiewicz, Beata
A1 Sutphen, Rebecca
A1 Swerdlow, Anthony J.
A1 Szafron, Lukasz Michal
A1 Teo, Soo Hwang
A1 Thompson, Pamela J
A1 Thomsen, Liv Cecilie Vestrheim
A1 Titus, Linda
A1 Tone, Alicia
A1 Tumino, Rosario
A1 Turman, Constance
A1 Vanderstichele, Adriaan
A1 Velez Edwards, Digna
A1 Vergote, Ignace
A1 Vierkant, Robert A.
A1 Wang, Zhaoming
A1 Wang-Gohrke, Shan
A1 Webb, Penelope M.
A1 White, Emily
A1 Whittemore, Alice S.
A1 Winham, Stacey J.
A1 Wu, Xifeng
A1 Wu, Anna H.
A1 Yannoukakos, Drakoulis
A1 Spurdle, Amanda B
A1 O'Mara, Tracy A
YR 2020
UL http://cebp.aacrjournals.org/content/early/2020/11/03/1055-9965.EPI-20-0739.abstract
AB Background: Accumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. We aimed to identify joint endometrial and ovarian cancer risk loci by performing a meta-analysis of GWAS summary statistics from these two cancers. Methods: Using LDScore regression, we explored the genetic correlation between endometrial cancer and ovarian cancer. To identify loci associated with the risk of both cancers, we implemented a pipeline of statistical genetic analyses (i.e. inverse-variance meta-analysis, co-localization, and M-values), and performed analyses stratified by subtype. Candidate target genes were then prioritized using functional genomic data. Results: Genetic correlation analysis revealed significant genetic correlation between the two cancers (rG = 0.43, P = 2.66 × 10-5). We found seven loci associated with risk for both cancers (PBonferroni < 2.4 × 10-9). In addition, four novel sub-genome wide regions at 7p22.2, 7q22.1, 9p12 and 11q13.3 were identified (P < 5 × 10-7). Promoter-associated HiChIP chromatin loops from immortalized endometrium and ovarian cell lines, and expression quantitative trait loci (eQTL) data highlighted candidate target genes for further investigation. Conclusion: Using cross-cancer GWAS meta-analysis, we have identified several joint endometrial and ovarian cancer risk loci and candidate target genes for future functional analysis. Impact: Our research highlights the shared genetic relationship between endometrial cancer and ovarian cancer. Further studies in larger sample sets are required to confirm our findings.