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GWAS Study

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

Ramachandran D, Tyrer JP, Kommoss S et al.

38443389 PubMed ID
GWAS Study Type
7111 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

RD
Ramachandran D
TJ
Tyrer JP
KS
Kommoss S
DA
DeFazio A
RM
Riggan MJ
WP
Webb PM
FP
Fasching PA
LD
Lambrechts D
GM
García MJ
RC
Rodríguez-Antona C
GM
Goodman MT
MF
Modugno F
MK
Moysich KB
KB
Karlan BY
LJ
Lester J
KS
Kjaer SK
JA
Jensen A
HE
Høgdall E
GE
Goode EL
CW
Cliby WA
KA
Kumar A
WC
Wang C
CJ
Cunningham JM
WS
Winham SJ
MA
Monteiro AN
SJ
Schildkraut JM
CD
Cramer DW
TK
Terry KL
TL
Titus L
BL
Bjorge L
TL
Thomsen LCV
PT
Pejovic T
HC
Høgdall CK
MI
McNeish IA
MT
May T
HD
Huntsman DG
PJ
Pfisterer J
CU
Canzler U
PT
Park-Simon TW
SW
Schröder W
BA
Belau A
HL
Hanker L
HP
Harter P
SJ
Sehouli J
KR
Kimmig R
DG
de Gregorio N
SB
Schmalfeldt B
BK
Baumann K
HF
Hilpert F
BA
Burges A
WB
Winterhoff B
SP
Schürmann P
SL
Speith LM
HP
Hillemanns P
BA
Berchuck A
JS
Johnatty SE
RS
Ramus SJ
CG
Chenevix-Trench G
PP
Pharoah PDP
DT
Dörk T
HF
Heitz F
Chapter II

Abstract

Summary of the research findings

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.

3,705 European ancestry cases, 3,406 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

7111
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Canada, U.S., Belgium, Norway, Denmark, U.K., Australia, Germany
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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