Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set

D. Nevell; B. Young; C. Camaris; R. Crouch; L. Edwards; N. Hacker; D. Marsden; G. Robertson; P. Beale; J. Beith; J. Carter; C. Dalrymple; A. Hamilton; R. Houghton; P. Russell; A. Brand; R. Jaworski; P. Harnett; G. Wain; A. Crandon; J. White; V. Jayde; L. Bowes; P. Mamers; T. Schmidt; H. Shirley; S. Viduka; H. Tran; S. Bilic; L. Glavinas; A. Proietto; S. Braye; G. Otton; T. Bonaventura; J. Stewart; M. Friedlander; D. Bell; S. Baron-Hay; A. Ferrier; G. Gard; J. Beesley; S.J. Jordan; A.B. Spurdle; H. Song; S.J. Ramus; S.K. Kjaer; E. Hogdall; R.A. Dicioccio; V. Mcguire; A.S. Whittemore; S.A. Gayther; P.D.P. Pharoah; P.M. Webb; G. Chenevix-Trench; D. Bowtell; A. Green; A. Defazio; D. Gertig; N. Traficante; S. Moore; M. Cummings; K. Horwood; A. Obermair; D. Wyld; J. Nicklin; L. Perrin; B. Ward; M. Davy; C. Hall; T. Dodd; T. Healy; K. Pittman; D. Henderson; S. Hyde; J. Miller; J. Pierdes; P. Blomfield; D. Challis; R. Mcintosh; Anna Parker; J. Hung; S. Fereday; K. Harrap; T. Sadkowsky; A. Mellon; R. Robertson; T. Vanden Bergh; J. Maidens; K. Nattress; Y.E. Chiew; A. Stenlake; H. Sullivan; B. Alexander; P. Ashover; S. Brown; T. Corrish; L. Green; L. Jackman; K. Martin; B. Ranieri; B. Brown; R. Rome; D. Allen; P. Grant; R. Laurie; M. Robbie; D. Healy; T. Jobling; T. Maniolitas; J. Mcnealage; P. Rogers; B. Susil; A. Veitch; J. Constable; S.P. Tong; I. Robinson; I. Simpson; K. Phillips; D. Rischin; Paul Waring; M. Loughrey; N. O'Callaghan; B. Murray; V. Billson; S. Galloway; J. Pyman; M. Quinn; I. Hammond; A. Mccartney; Y. Leung; I. Haviv; D. Purdie; D. Whiteman; N. Zeps

doi:10.1158/1055-9965.EPI-07-0542

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set

D. Nevell, B. Young, C. Camaris, R. Crouch, L. Edwards, N. Hacker, D. Marsden, G. Robertson, P. Beale, J. Beith, J. Carter, C. Dalrymple, A. Hamilton, R. Houghton, P. Russell, A. Brand, R. Jaworski, P. Harnett, G. Wain, A. CrandonJ. White, V. Jayde, L. Bowes, P. Mamers, T. Schmidt, H. Shirley, S. Viduka, H. Tran, S. Bilic, L. Glavinas, A. Proietto, S. Braye, G. Otton, T. Bonaventura, J. Stewart, M. Friedlander, D. Bell, S. Baron-Hay, A. Ferrier, G. Gard, J. Beesley, S.J. Jordan, A.B. Spurdle, H. Song, S.J. Ramus, S.K. Kjaer, E. Hogdall, R.A. Dicioccio, V. Mcguire, A.S. Whittemore, S.A. Gayther, P.D.P. Pharoah, P.M. Webb, G. Chenevix-Trench, D. Bowtell, A. Green, A. Defazio, D. Gertig, N. Traficante, S. Moore, M. Cummings, K. Horwood, A. Obermair, D. Wyld, J. Nicklin, L. Perrin, B. Ward, M. Davy, C. Hall, T. Dodd, T. Healy, K. Pittman, D. Henderson, S. Hyde, J. Miller, J. Pierdes, P. Blomfield, D. Challis, R. Mcintosh, Anna Parker, J. Hung, S. Fereday, K. Harrap, T. Sadkowsky, A. Mellon, R. Robertson, T. Vanden Bergh, J. Maidens, K. Nattress, Y.E. Chiew, A. Stenlake, H. Sullivan, B. Alexander, P. Ashover, S. Brown, T. Corrish, L. Green, L. Jackman, K. Martin, B. Ranieri, B. Brown, R. Rome, D. Allen, P. Grant, R. Laurie, M. Robbie, D. Healy, T. Jobling, T. Maniolitas, J. Mcnealage, P. Rogers, B. Susil, A. Veitch, J. Constable, S.P. Tong, I. Robinson, I. Simpson, K. Phillips, D. Rischin, Paul Waring, M. Loughrey, N. O'Callaghan, B. Murray, V. Billson, S. Galloway, J. Pyman, M. Quinn, I. Hammond, A. Mccartney, Y. Leung, I. Haviv, D. Purdie, D. Whiteman, N. Zeps

Research output: Contribution to journal › Article › peer-review

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Abstract

Although some high-risk ovarian cancer genes have been identified, it is likely that common low penetrance alleles exist that confer some increase in ovarian cancer risk. We have genotyped nine putative functional single-nucleotide polymorphisms (SNP) in genes involved in steroid hormone synthesis (SRD5A2, CYP19A1, HSB17B1, and HSD17B4) and DNA repair (XRCC2, XRCC3, BRCA2, and RAD52) using two Australian ovarian cancer case-control studies, comprising a total of 1,466 cases and 1,821 controls of Caucasian origin. Genotype frequencies in cases and controls were compared using logistic regression. The only SNP we found to be associated with ovarian cancer risk in both of these two studies was SRD5A2 V89L (rs523349), which showed a significant trend of increasing risk per rare allele (P = 0.00002). We then genotyped another SNP in this gene (rs632148; r2 = 0.945 with V89L) in an attempt to validate this finding in an independent set of 1,479 cases and 2,452 controls from United Kingdom, United States, and Denmark. There was no association between rs632148 and ovarian cancer risk in the validation samples, and overall, there was no significant heterogeneity between the results of the five studies. Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition.

Original language	English
Pages (from-to)	2557-2565
Journal	Cancer Epidemiology, Biomarkers & Prevention
Volume	16
Issue number	12
DOIs	https://doi.org/10.1158/1055-9965.EPI-07-0542
Publication status	Published - 2007

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10.1158/1055-9965.EPI-07-0542

Cite this

Nevell, D., Young, B., Camaris, C., Crouch, R., Edwards, L., Hacker, N., Marsden, D., Robertson, G., Beale, P., Beith, J., Carter, J., Dalrymple, C., Hamilton, A., Houghton, R., Russell, P., Brand, A., Jaworski, R., Harnett, P., Wain, G., ... Zeps, N. (2007). Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set. Cancer Epidemiology, Biomarkers & Prevention, 16(12), 2557-2565. https://doi.org/10.1158/1055-9965.EPI-07-0542

@article{a3ffad63414b4e5d9d8da6d252d90707,

title = "Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set",

abstract = "Although some high-risk ovarian cancer genes have been identified, it is likely that common low penetrance alleles exist that confer some increase in ovarian cancer risk. We have genotyped nine putative functional single-nucleotide polymorphisms (SNP) in genes involved in steroid hormone synthesis (SRD5A2, CYP19A1, HSB17B1, and HSD17B4) and DNA repair (XRCC2, XRCC3, BRCA2, and RAD52) using two Australian ovarian cancer case-control studies, comprising a total of 1,466 cases and 1,821 controls of Caucasian origin. Genotype frequencies in cases and controls were compared using logistic regression. The only SNP we found to be associated with ovarian cancer risk in both of these two studies was SRD5A2 V89L (rs523349), which showed a significant trend of increasing risk per rare allele (P = 0.00002). We then genotyped another SNP in this gene (rs632148; r2 = 0.945 with V89L) in an attempt to validate this finding in an independent set of 1,479 cases and 2,452 controls from United Kingdom, United States, and Denmark. There was no association between rs632148 and ovarian cancer risk in the validation samples, and overall, there was no significant heterogeneity between the results of the five studies. Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition.",

author = "D. Nevell and B. Young and C. Camaris and R. Crouch and L. Edwards and N. Hacker and D. Marsden and G. Robertson and P. Beale and J. Beith and J. Carter and C. Dalrymple and A. Hamilton and R. Houghton and P. Russell and A. Brand and R. Jaworski and P. Harnett and G. Wain and A. Crandon and J. White and V. Jayde and L. Bowes and P. Mamers and T. Schmidt and H. Shirley and S. Viduka and H. Tran and S. Bilic and L. Glavinas and A. Proietto and S. Braye and G. Otton and T. Bonaventura and J. Stewart and M. Friedlander and D. Bell and S. Baron-Hay and A. Ferrier and G. Gard and J. Beesley and S.J. Jordan and A.B. Spurdle and H. Song and S.J. Ramus and S.K. Kjaer and E. Hogdall and R.A. Dicioccio and V. Mcguire and A.S. Whittemore and S.A. Gayther and P.D.P. Pharoah and P.M. Webb and G. Chenevix-Trench and D. Bowtell and A. Green and A. Defazio and D. Gertig and N. Traficante and S. Moore and M. Cummings and K. Horwood and A. Obermair and D. Wyld and J. Nicklin and L. Perrin and B. Ward and M. Davy and C. Hall and T. Dodd and T. Healy and K. Pittman and D. Henderson and S. Hyde and J. Miller and J. Pierdes and P. Blomfield and D. Challis and R. Mcintosh and Anna Parker and J. Hung and S. Fereday and K. Harrap and T. Sadkowsky and A. Mellon and R. Robertson and {Vanden Bergh}, T. and J. Maidens and K. Nattress and Y.E. Chiew and A. Stenlake and H. Sullivan and B. Alexander and P. Ashover and S. Brown and T. Corrish and L. Green and L. Jackman and K. Martin and B. Ranieri and B. Brown and R. Rome and D. Allen and P. Grant and R. Laurie and M. Robbie and D. Healy and T. Jobling and T. Maniolitas and J. Mcnealage and P. Rogers and B. Susil and A. Veitch and J. Constable and S.P. Tong and I. Robinson and I. Simpson and K. Phillips and D. Rischin and Paul Waring and M. Loughrey and N. O'Callaghan and B. Murray and V. Billson and S. Galloway and J. Pyman and M. Quinn and I. Hammond and A. Mccartney and Y. Leung and I. Haviv and D. Purdie and D. Whiteman and N. Zeps",

year = "2007",

doi = "10.1158/1055-9965.EPI-07-0542",

language = "English",

volume = "16",

pages = "2557--2565",

journal = "Cancer Epidemiology, Biomarkers & Prevention",

issn = "1055-9965",

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Nevell, D, Young, B, Camaris, C, Crouch, R, Edwards, L, Hacker, N, Marsden, D, Robertson, G, Beale, P, Beith, J, Carter, J, Dalrymple, C, Hamilton, A, Houghton, R, Russell, P, Brand, A, Jaworski, R, Harnett, P, Wain, G, Crandon, A, White, J, Jayde, V, Bowes, L, Mamers, P, Schmidt, T, Shirley, H, Viduka, S, Tran, H, Bilic, S, Glavinas, L, Proietto, A, Braye, S, Otton, G, Bonaventura, T, Stewart, J, Friedlander, M, Bell, D, Baron-Hay, S, Ferrier, A, Gard, G, Beesley, J, Jordan, SJ, Spurdle, AB, Song, H, Ramus, SJ, Kjaer, SK, Hogdall, E, Dicioccio, RA, Mcguire, V, Whittemore, AS, Gayther, SA, Pharoah, PDP, Webb, PM, Chenevix-Trench, G, Bowtell, D, Green, A, Defazio, A, Gertig, D, Traficante, N, Moore, S, Cummings, M, Horwood, K, Obermair, A, Wyld, D, Nicklin, J, Perrin, L, Ward, B, Davy, M, Hall, C, Dodd, T, Healy, T, Pittman, K, Henderson, D, Hyde, S, Miller, J, Pierdes, J, Blomfield, P, Challis, D, Mcintosh, R, Parker, A, Hung, J, Fereday, S, Harrap, K, Sadkowsky, T, Mellon, A, Robertson, R, Vanden Bergh, T, Maidens, J, Nattress, K, Chiew, YE, Stenlake, A, Sullivan, H, Alexander, B, Ashover, P, Brown, S, Corrish, T, Green, L, Jackman, L, Martin, K, Ranieri, B, Brown, B, Rome, R, Allen, D, Grant, P, Laurie, R, Robbie, M, Healy, D, Jobling, T, Maniolitas, T, Mcnealage, J, Rogers, P, Susil, B, Veitch, A, Constable, J, Tong, SP, Robinson, I, Simpson, I, Phillips, K, Rischin, D, Waring, P, Loughrey, M, O'Callaghan, N, Murray, B, Billson, V, Galloway, S, Pyman, J, Quinn, M, Hammond, I, Mccartney, A, Leung, Y, Haviv, I, Purdie, D, Whiteman, D & Zeps, N 2007, 'Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set', Cancer Epidemiology, Biomarkers & Prevention, vol. 16, no. 12, pp. 2557-2565. https://doi.org/10.1158/1055-9965.EPI-07-0542

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set. / Nevell, D.; Young, B.; Camaris, C. et al.
In: Cancer Epidemiology, Biomarkers & Prevention, Vol. 16, No. 12, 2007, p. 2557-2565.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set

AU - Nevell, D.

AU - Young, B.

AU - Camaris, C.

AU - Crouch, R.

AU - Edwards, L.

AU - Hacker, N.

AU - Marsden, D.

AU - Robertson, G.

AU - Beale, P.

AU - Beith, J.

AU - Carter, J.

AU - Dalrymple, C.

AU - Hamilton, A.

AU - Houghton, R.

AU - Russell, P.

AU - Brand, A.

AU - Jaworski, R.

AU - Harnett, P.

AU - Wain, G.

AU - Crandon, A.

AU - White, J.

AU - Jayde, V.

AU - Bowes, L.

AU - Mamers, P.

AU - Schmidt, T.

AU - Shirley, H.

AU - Viduka, S.

AU - Tran, H.

AU - Bilic, S.

AU - Glavinas, L.

AU - Proietto, A.

AU - Braye, S.

AU - Otton, G.

AU - Bonaventura, T.

AU - Stewart, J.

AU - Friedlander, M.

AU - Bell, D.

AU - Baron-Hay, S.

AU - Ferrier, A.

AU - Gard, G.

AU - Beesley, J.

AU - Jordan, S.J.

AU - Spurdle, A.B.

AU - Song, H.

AU - Ramus, S.J.

AU - Kjaer, S.K.

AU - Hogdall, E.

AU - Dicioccio, R.A.

AU - Mcguire, V.

AU - Whittemore, A.S.

AU - Gayther, S.A.

AU - Pharoah, P.D.P.

AU - Webb, P.M.

AU - Chenevix-Trench, G.

AU - Bowtell, D.

AU - Green, A.

AU - Defazio, A.

AU - Gertig, D.

AU - Traficante, N.

AU - Moore, S.

AU - Cummings, M.

AU - Horwood, K.

AU - Obermair, A.

AU - Wyld, D.

AU - Nicklin, J.

AU - Perrin, L.

AU - Ward, B.

AU - Davy, M.

AU - Hall, C.

AU - Dodd, T.

AU - Healy, T.

AU - Pittman, K.

AU - Henderson, D.

AU - Hyde, S.

AU - Miller, J.

AU - Pierdes, J.

AU - Blomfield, P.

AU - Challis, D.

AU - Mcintosh, R.

AU - Parker, Anna

AU - Hung, J.

AU - Fereday, S.

AU - Harrap, K.

AU - Sadkowsky, T.

AU - Mellon, A.

AU - Robertson, R.

AU - Vanden Bergh, T.

AU - Maidens, J.

AU - Nattress, K.

AU - Chiew, Y.E.

AU - Stenlake, A.

AU - Sullivan, H.

AU - Alexander, B.

AU - Ashover, P.

AU - Brown, S.

AU - Corrish, T.

AU - Green, L.

AU - Jackman, L.

AU - Martin, K.

AU - Ranieri, B.

AU - Brown, B.

AU - Rome, R.

AU - Allen, D.

AU - Grant, P.

AU - Laurie, R.

AU - Robbie, M.

AU - Healy, D.

AU - Jobling, T.

AU - Maniolitas, T.

AU - Mcnealage, J.

AU - Rogers, P.

AU - Susil, B.

AU - Veitch, A.

AU - Constable, J.

AU - Tong, S.P.

AU - Robinson, I.

AU - Simpson, I.

AU - Phillips, K.

AU - Rischin, D.

AU - Waring, Paul

AU - Loughrey, M.

AU - O'Callaghan, N.

AU - Murray, B.

AU - Billson, V.

AU - Galloway, S.

AU - Pyman, J.

AU - Quinn, M.

AU - Hammond, I.

AU - Mccartney, A.

AU - Leung, Y.

AU - Haviv, I.

AU - Purdie, D.

AU - Whiteman, D.

AU - Zeps, N.

PY - 2007

Y1 - 2007

N2 - Although some high-risk ovarian cancer genes have been identified, it is likely that common low penetrance alleles exist that confer some increase in ovarian cancer risk. We have genotyped nine putative functional single-nucleotide polymorphisms (SNP) in genes involved in steroid hormone synthesis (SRD5A2, CYP19A1, HSB17B1, and HSD17B4) and DNA repair (XRCC2, XRCC3, BRCA2, and RAD52) using two Australian ovarian cancer case-control studies, comprising a total of 1,466 cases and 1,821 controls of Caucasian origin. Genotype frequencies in cases and controls were compared using logistic regression. The only SNP we found to be associated with ovarian cancer risk in both of these two studies was SRD5A2 V89L (rs523349), which showed a significant trend of increasing risk per rare allele (P = 0.00002). We then genotyped another SNP in this gene (rs632148; r2 = 0.945 with V89L) in an attempt to validate this finding in an independent set of 1,479 cases and 2,452 controls from United Kingdom, United States, and Denmark. There was no association between rs632148 and ovarian cancer risk in the validation samples, and overall, there was no significant heterogeneity between the results of the five studies. Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition.

AB - Although some high-risk ovarian cancer genes have been identified, it is likely that common low penetrance alleles exist that confer some increase in ovarian cancer risk. We have genotyped nine putative functional single-nucleotide polymorphisms (SNP) in genes involved in steroid hormone synthesis (SRD5A2, CYP19A1, HSB17B1, and HSD17B4) and DNA repair (XRCC2, XRCC3, BRCA2, and RAD52) using two Australian ovarian cancer case-control studies, comprising a total of 1,466 cases and 1,821 controls of Caucasian origin. Genotype frequencies in cases and controls were compared using logistic regression. The only SNP we found to be associated with ovarian cancer risk in both of these two studies was SRD5A2 V89L (rs523349), which showed a significant trend of increasing risk per rare allele (P = 0.00002). We then genotyped another SNP in this gene (rs632148; r2 = 0.945 with V89L) in an attempt to validate this finding in an independent set of 1,479 cases and 2,452 controls from United Kingdom, United States, and Denmark. There was no association between rs632148 and ovarian cancer risk in the validation samples, and overall, there was no significant heterogeneity between the results of the five studies. Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition.

U2 - 10.1158/1055-9965.EPI-07-0542

DO - 10.1158/1055-9965.EPI-07-0542

M3 - Article

C2 - 18086758

SN - 1055-9965

VL - 16

SP - 2557

EP - 2565

JO - Cancer Epidemiology, Biomarkers & Prevention

JF - Cancer Epidemiology, Biomarkers & Prevention

IS - 12

ER -

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer : results from two Australian studies and an additional validation set

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