Scholars@Duke publication: Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.

Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.

Publication , Journal Article

Ramachandran, D; Tyrer, JP; Kommoss, S; DeFazio, A; Riggan, MJ; AOCS Group; Webb, PM; Fasching, PA; Lambrechts, D; García, MJ; Goodman, MT ...

Published in: NPJ Genom Med

March 5, 2024

Published version (DOI) Link to item

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.

Duke Scholars

Author Andrew Berchuck Obstetrics and Gynecology, Gynecologic Oncology

Published In

NPJ Genom Med

DOI

10.1038/s41525-024-00395-y

EISSN

2056-7944

Publication Date

March 5, 2024

Volume

Issue

Start / End Page

Location

England

Related Subject Headings

3206 Medical biotechnology
3105 Genetics

Citation

APA

Chicago

ICMJE

MLA

NLM

Ramachandran, D., Tyrer, J. P., Kommoss, S., DeFazio, A., Riggan, M. J., AOCS Group, … Heitz, F. (2024). Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease. NPJ Genom Med, 9(1), 19. https://doi.org/10.1038/s41525-024-00395-y

Ramachandran, Dhanya, Jonathan P. Tyrer, Stefan Kommoss, Anna DeFazio, Marjorie J. Riggan, AOCS Group, Penelope M. Webb, et al. “Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.” NPJ Genom Med 9, no. 1 (March 5, 2024): 19. https://doi.org/10.1038/s41525-024-00395-y.

Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ, AOCS Group, et al. Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease. NPJ Genom Med. 2024 Mar 5;9(1):19.

Ramachandran, Dhanya, et al. “Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease.” NPJ Genom Med, vol. 9, no. 1, Mar. 2024, p. 19. Pubmed, doi:10.1038/s41525-024-00395-y.

Ramachandran D, Tyrer JP, Kommoss S, DeFazio A, Riggan MJ, AOCS Group, Webb PM, Fasching PA, Lambrechts D, García MJ, Rodríguez-Antona C, Goodman MT, Modugno F, Moysich KB, Karlan BY, Lester J, Kjaer SK, Jensen A, Høgdall E, Goode EL, Cliby WA, Kumar A, Wang C, Cunningham JM, Winham SJ, Monteiro AN, Schildkraut JM, Cramer DW, Terry KL, Titus L, Bjorge L, Thomsen LCV, OPAL Study Group, Pejovic T, Høgdall CK, McNeish IA, May T, Huntsman DG, Pfisterer J, Canzler U, Park-Simon T-W, Schröder W, Belau A, Hanker L, Harter P, Sehouli J, Kimmig R, de Gregorio N, Schmalfeldt B, Baumann K, Hilpert F, Burges A, Winterhoff B, Schürmann P, Speith L-M, Hillemanns P, Berchuck A, Johnatty SE, Ramus SJ, Chenevix-Trench G, Pharoah PDP, Dörk T, Heitz F. Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease. NPJ Genom Med. 2024 Mar 5;9(1):19.

Published In

NPJ Genom Med

DOI

10.1038/s41525-024-00395-y

EISSN

2056-7944

Publication Date

March 5, 2024

Volume

Issue

Start / End Page

Location

England

Related Subject Headings

3206 Medical biotechnology
3105 Genetics