Consortium analysis of 7 candidate SNPs for ovarian cancer

Ramus, Susan J., Vierkant, Robert A., Johnatty, Sharon E., Pike, Malcolm C., Van Den Berg, David J., Wu, Anna H., Pearce, Celeste Leigh, Menon, Usha, Gentry-Maharaj, Aleksandra, Gayther, Simon A., DiCioccio, Richard A., McGuire, Valerie, Whittemore, Alice S., Song, Honglin, Easton, Douglas F., Pharoah, Paul D. P., Garcia-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise, Terry, Kathryn L., Cramer, Daniel W., Tworoger, Shelly S., Hankinson, Susan E., Berchuck, Andrew, Moorman, Patricia G., Schildkraut, Joellen M., Cunningham, Julie M., Liebow, Mark, Kjaer, Susanne Krueger, Hogdall, Estrid, Hogdall, Claus, Blaaker, Jan, Ness, Roberta B., Moysich, Kirsten B., Edwards, Robert P., Carney, Michael E., Lurie, Galina, Goodman, Marc T., Wang-Gohrke, Shan, Kropp, Silke, Chang-Claude, Jenny, Webb, Penelope M., Chen, Xiaoqing, Beesley, Jonathan, Chenevix-Trench, Georgia and Goode, Ellen L. (2008) Consortium analysis of 7 candidate SNPs for ovarian cancer. International Journal of Cancer, 123 2: 380-388. doi:10.1002/ijc.23448


Author Ramus, Susan J.
Vierkant, Robert A.
Johnatty, Sharon E.
Pike, Malcolm C.
Van Den Berg, David J.
Wu, Anna H.
Pearce, Celeste Leigh
Menon, Usha
Gentry-Maharaj, Aleksandra
Gayther, Simon A.
DiCioccio, Richard A.
McGuire, Valerie
Whittemore, Alice S.
Song, Honglin
Easton, Douglas F.
Pharoah, Paul D. P.
Garcia-Closas, Montserrat
Chanock, Stephen
Lissowska, Jolanta
Brinton, Louise
Terry, Kathryn L.
Cramer, Daniel W.
Tworoger, Shelly S.
Hankinson, Susan E.
Berchuck, Andrew
Moorman, Patricia G.
Schildkraut, Joellen M.
Cunningham, Julie M.
Liebow, Mark
Kjaer, Susanne Krueger
Hogdall, Estrid
Hogdall, Claus
Blaaker, Jan
Ness, Roberta B.
Moysich, Kirsten B.
Edwards, Robert P.
Carney, Michael E.
Lurie, Galina
Goodman, Marc T.
Wang-Gohrke, Shan
Kropp, Silke
Chang-Claude, Jenny
Webb, Penelope M.
Chen, Xiaoqing
Beesley, Jonathan
Chenevix-Trench, Georgia
Goode, Ellen L.
Title Consortium analysis of 7 candidate SNPs for ovarian cancer
Journal name International Journal of Cancer   Check publisher's open access policy
ISSN 0020-7136
1097-0215
Publication date 2008-07-15
Sub-type Article (original research)
DOI 10.1002/ijc.23448
Volume 123
Issue 2
Start page 380
End page 388
Total pages 9
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
The Ovarian Cancer Association Consortium selected 7 candidate single nucleotide polymorphisms (SNPs), for which there is evidence from previous studies of an association with variation in ovarian cancer or breast cancer risks. The SNPs selected for analysis were F31I (rs2273535) in AURKA, N372H (rs144848) in BRCA2, rs2854344 in intron 17 of RB1, rs2811712 5′ flanking CDKN2A, rs523349 in the 3′ UTR of SRD5A2, D302H (rs1045485) in CASP8 and L10P (rs1982073) in TGFB1. Fourteen studies genotyped 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin. A marginally significant association was found for RB1 when all studies were included [ordinal odds ratio (OR) 0.88 (95% confidence interval (CI) 0.79–1.00) p = 0.041 and dominant OR 0.87 (95% CI 0.76–0.98) p = 0.025]; when the studies that originally suggested an association were excluded, the result was suggestive although no longer statistically significant (ordinal OR 0.92, 95% CI 0.79–1.06). This SNP has also been shown to have an association with decreased risk in breast cancer. There was a suggestion of an association for AURKA, when one study that caused significant study heterogeneity was excluded [ordinal OR 1.10 (95% CI 1.01–1.20) p = 0.027; dominant OR 1.12 (95% CI 1.01–1.24) p = 0.03]. The other 5 SNPs in BRCA2, CDKN2A, SRD5A2, CASP8 and TGFB1 showed no association with ovarian cancer risk; given the large sample size, these results can also be considered to be informative. These null results for SNPs identified from relatively large initial studies shows the importance of replicating associations by a consortium approach.
Keyword Association study
Neoplasms
Ovarian cancer
Replication
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
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