Skip to main content

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

Publication ,  Journal Article
Pharoah, PDP; Tsai, Y-Y; Ramus, SJ; Phelan, CM; Goode, EL; Lawrenson, K; Buckley, M; Fridley, BL; Tyrer, JP; Shen, H; Weber, R; Karevan, R ...
Published in: Nat Genet
April 2013

Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusion on the iCOGS custom genotyping array. We performed follow-up genotyping in 18,174 individuals with EOC (cases) and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. We validated the two loci at 3q25 and 17q21 that were previously found to have associations close to genome-wide significance and identified three loci newly associated with risk: two loci associated with all EOC subtypes at 8q21 (rs11782652, P = 5.5 × 10(-9)) and 10p12 (rs1243180, P = 1.8 × 10(-8)) and another locus specific to the serous subtype at 17q12 (rs757210, P = 8.1 × 10(-10)). An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility and implicated CHMP4C in the pathogenesis of ovarian cancer.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

April 2013

Volume

45

Issue

4

Start / End Page

362 / 370e2

Location

United States

Related Subject Headings

  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Neoplasm Invasiveness
  • Meta-Analysis as Topic
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Pharoah, P. D. P., Tsai, Y.-Y., Ramus, S. J., Phelan, C. M., Goode, E. L., Lawrenson, K., … Sellers, T. A. (2013). GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet, 45(4), 362-370e2. https://doi.org/10.1038/ng.2564
Pharoah, Paul D. P., Ya-Yu Tsai, Susan J. Ramus, Catherine M. Phelan, Ellen L. Goode, Kate Lawrenson, Melissa Buckley, et al. “GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.Nat Genet 45, no. 4 (April 2013): 362-370e2. https://doi.org/10.1038/ng.2564.
Pharoah PDP, Tsai Y-Y, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, et al. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet. 2013 Apr;45(4):362-370e2.
Pharoah, Paul D. P., et al. “GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.Nat Genet, vol. 45, no. 4, Apr. 2013, pp. 362-370e2. Pubmed, doi:10.1038/ng.2564.
Pharoah PDP, Tsai Y-Y, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Australian Cancer Study, Australian Ovarian Cancer Study Group, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow W-H, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao Y-T, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Høgdall E, Høgdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubiński J, Lundvall L, Lurie G, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shridhar V, Shu X-O, Sieh W, Southey MC, Spellman P, Tajima K, Teo S-H, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM, van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH, Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro ANA, Gayther SA, Schildkraut JM, Sellers TA. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet. 2013 Apr;45(4):362-370e2.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

April 2013

Volume

45

Issue

4

Start / End Page

362 / 370e2

Location

United States

Related Subject Headings

  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Neoplasm Invasiveness
  • Meta-Analysis as Topic
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Genetic Loci