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Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease
- Ramachandran, Dhanya;
- Tyrer, Jonathan P;
- Kommoss, Stefan;
- DeFazio, Anna;
- Riggan, Marjorie J;
- Webb, Penelope M;
- Fasching, Peter A;
- Lambrechts, Diether;
- García, María J;
- Rodríguez-Antona, Cristina;
- Goodman, Marc T;
- Modugno, Francesmary;
- Moysich, Kirsten B;
- Karlan, Beth Y;
- Lester, Jenny;
- Kjaer, Susanne K;
- Jensen, Allan;
- Høgdall, Estrid;
- Goode, Ellen L;
- Cliby, William A;
- Kumar, Amanika;
- Wang, Chen;
- Cunningham, Julie M;
- Winham, Stacey J;
- Monteiro, Alvaro N;
- Schildkraut, Joellen M;
- Cramer, Daniel W;
- Terry, Kathryn L;
- Titus, Linda;
- Bjorge, Line;
- Thomsen, Liv Cecilie Vestrheim;
- Pejovic, Tanja;
- Høgdall, Claus K;
- McNeish, Iain A;
- May, Taymaa;
- Huntsman, David G;
- Pfisterer, Jacobus;
- Canzler, Ulrich;
- Park-Simon, Tjoung-Won;
- Schröder, Willibald;
- Belau, Antje;
- Hanker, Lars;
- Harter, Philipp;
- Sehouli, Jalid;
- Kimmig, Rainer;
- de Gregorio, Nikolaus;
- Schmalfeldt, Barbara;
- Baumann, Klaus;
- Hilpert, Felix;
- Burges, Alexander;
- Winterhoff, Boris;
- Schürmann, Peter;
- Speith, Lisa-Marie;
- Hillemanns, Peter;
- Berchuck, Andrew;
- Johnatty, Sharon E;
- Ramus, Susan J;
- Chenevix-Trench, Georgia;
- Pharoah, Paul DP;
- Dörk, Thilo;
- Heitz, Florian
- et al.
Published Web Location
https://doi.org/10.1038/s41525-024-00395-yAbstract
Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association analyses for resection status of 7705 ovarian cancer patients, including 4954 with high-grade serous carcinoma (HGSOC), to identify variants associated with residual disease. The most significant association with resection status was observed for rs72845444, upstream of MGMT, in HGSOC (p = 3.9 × 10-8). In gene-based analyses, PPP2R5C was the most strongly associated gene in HGSOC after stage adjustment. In an independent set of 378 ovarian tumours from the AGO-OVAR 11 study, variants near MGMT and PPP2R5C correlated with methylation and transcript levels, and PPP2R5C mRNA levels predicted progression-free survival in patients with residual disease. MGMT encodes a DNA repair enzyme, and PPP2R5C encodes the B56γ subunit of the PP2A tumour suppressor. Our results link heritable variation at these two loci with resection status in HGSOC.
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