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Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk.

Publication ,  Journal Article
Amankwah, EK; Lin, H-Y; Tyrer, JP; Lawrenson, K; Dennis, J; Chornokur, G; Aben, KKH; Anton-Culver, H; Antonenkova, N; Bruinsma, F; Bandera, EV ...
Published in: Genet Epidemiol
December 2015

Epithelial-mesenchymal transition (EMT) is a process whereby epithelial cells assume mesenchymal characteristics to facilitate cancer metastasis. However, EMT also contributes to the initiation and development of primary tumors. Prior studies that explored the hypothesis that EMT gene variants contribute to epithelial ovarian carcinoma (EOC) risk have been based on small sample sizes and none have sought replication in an independent population. We screened 15,816 single-nucleotide polymorphisms (SNPs) in 296 genes in a discovery phase using data from a genome-wide association study of EOC among women of European ancestry (1,947 cases and 2,009 controls) and identified 793 variants in 278 EMT-related genes that were nominally (P < 0.05) associated with invasive EOC. These SNPs were then genotyped in a larger study of 14,525 invasive-cancer patients and 23,447 controls. A P-value <0.05 and a false discovery rate (FDR) <0.2 were considered statistically significant. In the larger dataset, GPC6/GPC5 rs17702471 was associated with the endometrioid subtype among Caucasians (odds ratio (OR) = 1.16, 95% CI = 1.07-1.25, P = 0.0003, FDR = 0.19), whereas F8 rs7053448 (OR = 1.69, 95% CI = 1.27-2.24, P = 0.0003, FDR = 0.12), F8 rs7058826 (OR = 1.69, 95% CI = 1.27-2.24, P = 0.0003, FDR = 0.12), and CAPN13 rs1983383 (OR = 0.79, 95% CI = 0.69-0.90, P = 0.0005, FDR = 0.12) were associated with combined invasive EOC among Asians. In silico functional analyses revealed that GPC6/GPC5 rs17702471 coincided with DNA regulatory elements. These results suggest that EMT gene variants do not appear to play a significant role in the susceptibility to EOC.

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Published In

Genet Epidemiol

DOI

EISSN

1098-2272

Publication Date

December 2015

Volume

39

Issue

8

Start / End Page

689 / 697

Location

United States

Related Subject Headings

  • White People
  • Risk
  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Odds Ratio
  • Neoplasms, Glandular and Epithelial
  • Middle Aged
  • Humans
  • Genotype
  • Genome-Wide Association Study
 

Citation

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Amankwah, E. K., Lin, H.-Y., Tyrer, J. P., Lawrenson, K., Dennis, J., Chornokur, G., … Phelan, C. M. (2015). Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk. Genet Epidemiol, 39(8), 689–697. https://doi.org/10.1002/gepi.21921
Amankwah, Ernest K., Hui-Yi Lin, Jonathan P. Tyrer, Kate Lawrenson, Joe Dennis, Ganna Chornokur, Katja K. H. Aben, et al. “Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk.Genet Epidemiol 39, no. 8 (December 2015): 689–97. https://doi.org/10.1002/gepi.21921.
Amankwah EK, Lin H-Y, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, et al. Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk. Genet Epidemiol. 2015 Dec;39(8):689–97.
Amankwah, Ernest K., et al. “Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk.Genet Epidemiol, vol. 39, no. 8, Dec. 2015, pp. 689–97. Pubmed, doi:10.1002/gepi.21921.
Amankwah EK, Lin H-Y, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Aben KKH, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chen Z, Chen YA, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Dicks E, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao Y-T, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harrington P, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji B-T, Karlan BY, Jim H, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Paul J, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schernhammer E, Schwaab I, Shu X-O, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo S-H, Terry KL, Thompson PJ, Thomsen L, Tangen IL, Tworoger SS, van Altena AM, Vierkant RA, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo Y-L, Yang H, Zheng W, Ziogas A, Kelemen LE, Berchuck A, Georgia Chenevix-Trench on behalf of the AOCS management group, Schildkraut JM, Ramus SJ, Goode EL, Monteiro ANA, Gayther SA, Narod SA, Pharoah PDP, Sellers TA, Phelan CM. Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk. Genet Epidemiol. 2015 Dec;39(8):689–697.
Journal cover image

Published In

Genet Epidemiol

DOI

EISSN

1098-2272

Publication Date

December 2015

Volume

39

Issue

8

Start / End Page

689 / 697

Location

United States

Related Subject Headings

  • White People
  • Risk
  • Polymorphism, Single Nucleotide
  • Ovarian Neoplasms
  • Odds Ratio
  • Neoplasms, Glandular and Epithelial
  • Middle Aged
  • Humans
  • Genotype
  • Genome-Wide Association Study