Consortium analysis of 7 candidate SNPs for ovarian cancer

Susan J Ramus; Robert A Vierkant; Sharon E Johnatty; Malcolm C Pike; David J Van Den Berg; Anna H Wu; Celeste Leigh Pearce; Usha Menon; Aleksandra Gentry-Maharaj; Simon A Gayther; Richard A DiCioccio; Valerie McGuire; Alice S Whittemore; Honglin Song; Douglas F Easton; Paul D P Pharoah; Montserrat Garcia-Closas; Stephen Chanock; Jolanta Lissowska; Louise Brinton; Kathryn L Terry; Daniel W Cramer; Shelley S Tworoger; Susan E Hankinson; Andrew Berchuck; Patricia G Moorman; Joellen M Schildkraut; Julie M Cunningham; Mark Liebow; Susanne Krüger Kjaer; Estrid Hogdall; Claus Hogdall; Jan Blaakaer; Roberta B Ness; Kirsten B Moysich; Robert P Edwards; Michael E Carney; Galina Lurie; Marc T Goodman; Shan Wang-Gohrke; Silke Kropp; Jenny Chang-Claude; Penelope M Webb; Xiaoqing Chen; Jonathan Beesley; Georgia Chenevix-Trench; Ellen L Goode

doi:10.1002/ijc.23448

Consortium analysis of 7 candidate SNPs for ovarian cancer

Susan J Ramus, Robert A Vierkant, Sharon E Johnatty, Malcolm C Pike, David J Van Den Berg, Anna H Wu, Celeste Leigh Pearce, Usha Menon, Aleksandra Gentry-Maharaj, Simon A Gayther, Richard A DiCioccio, Valerie McGuire, Alice S Whittemore, Honglin Song, Douglas F Easton, Paul D P Pharoah, Montserrat Garcia-Closas, Stephen Chanock, Jolanta Lissowska, Louise BrintonKathryn L Terry, Daniel W Cramer, Shelley S Tworoger, Susan E Hankinson, Andrew Berchuck, Patricia G Moorman, Joellen M Schildkraut, Julie M Cunningham, Mark Liebow, Susanne Krüger Kjaer, Estrid Hogdall, Claus Hogdall, Jan Blaakaer, Roberta B Ness, Kirsten B Moysich, Robert P Edwards, Michael E Carney, Galina Lurie, Marc T Goodman, Shan Wang-Gohrke, Silke Kropp, Jenny Chang-Claude, Penelope M Webb, Xiaoqing Chen, Jonathan Beesley, Georgia Chenevix-Trench, Ellen L Goode

77 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	International Journal of Cancer
Vol/bind	123
Udgave nummer	2
Sider (fra-til)	380-388
Antal sider	9
ISSN	0020-7136
DOI	https://doi.org/10.1002/ijc.23448
Status	Udgivet - 15 jul. 2008

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10.1002/ijc.23448

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Ramus, S. J., Vierkant, R. A., Johnatty, S. E., Pike, M. C., Van Den Berg, D. J., Wu, A. H., Pearce, C. L., Menon, U., Gentry-Maharaj, A., Gayther, S. A., DiCioccio, R. A., McGuire, V., Whittemore, A. S., Song, H., Easton, D. F., Pharoah, P. D. P., Garcia-Closas, M., Chanock, S., Lissowska, J., ... Goode, E. L. (2008). Consortium analysis of 7 candidate SNPs for ovarian cancer. International Journal of Cancer, 123(2), 380-388. https://doi.org/10.1002/ijc.23448

Ramus, SJ, Vierkant, RA, Johnatty, SE, Pike, MC, Van Den Berg, DJ, Wu, AH, Pearce, CL, Menon, U, Gentry-Maharaj, A, Gayther, SA, DiCioccio, RA, McGuire, V, Whittemore, AS, Song, H, Easton, DF, Pharoah, PDP, Garcia-Closas, M, Chanock, S, Lissowska, J, Brinton, L, Terry, KL, Cramer, DW, Tworoger, SS, Hankinson, SE, Berchuck, A, Moorman, PG, Schildkraut, JM, Cunningham, JM, Liebow, M, Kjaer, SK, Hogdall, E, Hogdall, C, Blaakaer, J, Ness, RB, Moysich, KB, Edwards, RP, Carney, ME, Lurie, G, Goodman, MT, Wang-Gohrke, S, Kropp, S, Chang-Claude, J, Webb, PM, Chen, X, Beesley, J, Chenevix-Trench, G & Goode, EL 2008, 'Consortium analysis of 7 candidate SNPs for ovarian cancer', International Journal of Cancer, bind 123, nr. 2, s. 380-388. https://doi.org/10.1002/ijc.23448

@article{fcd64f4485dd4cdbb302a951b4872d59,

title = "Consortium analysis of 7 candidate SNPs for ovarian cancer",

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.",

keywords = "3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics, Apoptosis Regulatory Proteins, Aurora Kinase A, Aurora Kinases, BRCA2 Protein/genetics, Breast Neoplasms/genetics, Carcinoma/genetics, Case-Control Studies, Caspase 8/genetics, Cyclin-Dependent Kinase Inhibitor p16/genetics, Female, Genotype, Humans, Mutation, Neoplasm Proteins/genetics, Odds Ratio, Ovarian Neoplasms/genetics, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases/genetics, Retinoblastoma Protein/genetics, Transforming Growth Factor beta1/genetics, White People/genetics",

author = "Ramus, {Susan J} and Vierkant, {Robert A} and Johnatty, {Sharon E} and Pike, {Malcolm C} and {Van Den Berg}, {David J} and Wu, {Anna H} and Pearce, {Celeste Leigh} and Usha Menon and Aleksandra Gentry-Maharaj and Gayther, {Simon A} and DiCioccio, {Richard A} and Valerie McGuire and Whittemore, {Alice S} and Honglin Song and Easton, {Douglas F} and Pharoah, {Paul D P} and Montserrat Garcia-Closas and Stephen Chanock and Jolanta Lissowska and Louise Brinton and Terry, {Kathryn L} and Cramer, {Daniel W} and Tworoger, {Shelley S} and Hankinson, {Susan E} and Andrew Berchuck and Moorman, {Patricia G} and Schildkraut, {Joellen M} and Cunningham, {Julie M} and Mark Liebow and Kjaer, {Susanne Kr{\"u}ger} and Estrid Hogdall and Claus Hogdall and Jan Blaakaer and Ness, {Roberta B} and Moysich, {Kirsten B} and Edwards, {Robert P} and Carney, {Michael E} and Galina Lurie and Goodman, {Marc T} and Shan Wang-Gohrke and Silke Kropp and Jenny Chang-Claude and Webb, {Penelope M} and Xiaoqing Chen and Jonathan Beesley and Georgia Chenevix-Trench and Goode, {Ellen L}",

year = "2008",

month = jul,

day = "15",

doi = "10.1002/ijc.23448",

language = "English",

volume = "123",

pages = "380--388",

journal = "International Journal of Cancer",

issn = "0020-7136",

publisher = "JohnWiley & Sons, Inc",

number = "2",

}

TY - JOUR

T1 - Consortium analysis of 7 candidate SNPs for ovarian cancer

AU - Ramus, Susan J

AU - Vierkant, Robert A

AU - Johnatty, Sharon E

AU - Pike, Malcolm C

AU - Van Den Berg, David J

AU - Wu, Anna H

AU - Pearce, Celeste Leigh

AU - Menon, Usha

AU - Gentry-Maharaj, Aleksandra

AU - Gayther, Simon A

AU - DiCioccio, Richard A

AU - McGuire, Valerie

AU - Whittemore, Alice S

AU - Song, Honglin

AU - Easton, Douglas F

AU - Pharoah, Paul D P

AU - Garcia-Closas, Montserrat

AU - Chanock, Stephen

AU - Lissowska, Jolanta

AU - Brinton, Louise

AU - Terry, Kathryn L

AU - Cramer, Daniel W

AU - Tworoger, Shelley S

AU - Hankinson, Susan E

AU - Berchuck, Andrew

AU - Moorman, Patricia G

AU - Schildkraut, Joellen M

AU - Cunningham, Julie M

AU - Liebow, Mark

AU - Kjaer, Susanne Krüger

AU - Hogdall, Estrid

AU - Hogdall, Claus

AU - Blaakaer, Jan

AU - Ness, Roberta B

AU - Moysich, Kirsten B

AU - Edwards, Robert P

AU - Carney, Michael E

AU - Lurie, Galina

AU - Goodman, Marc T

AU - Wang-Gohrke, Shan

AU - Kropp, Silke

AU - Chang-Claude, Jenny

AU - Webb, Penelope M

AU - Chen, Xiaoqing

AU - Beesley, Jonathan

AU - Chenevix-Trench, Georgia

AU - Goode, Ellen L

PY - 2008/7/15

Y1 - 2008/7/15

N2 - 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.

AB - 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.

KW - 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics

KW - Apoptosis Regulatory Proteins

KW - Aurora Kinase A

KW - Aurora Kinases

KW - BRCA2 Protein/genetics

KW - Breast Neoplasms/genetics

KW - Carcinoma/genetics

KW - Case-Control Studies

KW - Caspase 8/genetics

KW - Cyclin-Dependent Kinase Inhibitor p16/genetics

KW - Female

KW - Genotype

KW - Humans

KW - Mutation

KW - Neoplasm Proteins/genetics

KW - Odds Ratio

KW - Ovarian Neoplasms/genetics

KW - Polymorphism, Single Nucleotide

KW - Protein Serine-Threonine Kinases/genetics

KW - Retinoblastoma Protein/genetics

KW - Transforming Growth Factor beta1/genetics

KW - White People/genetics

U2 - 10.1002/ijc.23448

DO - 10.1002/ijc.23448

M3 - Journal article

C2 - 18431743

SN - 0020-7136

VL - 123

SP - 380

EP - 388

JO - International Journal of Cancer

JF - International Journal of Cancer

IS - 2

ER -

Consortium analysis of 7 candidate SNPs for ovarian cancer

Abstract

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