Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Breast cancer susceptibility variants alter risk in familial ovarian cancer

Breast cancer susceptibility variants alter risk in familial ovarian cancer Recent candidate gene and genome wide association studies have revealed novel loci associated with an increased risk of breast cancer. We evaluated the effect of these breast cancer associated variants on ovarian cancer risk in individuals with familial ovarian cancer both with and without BRCA1 or BRCA2 mutations. A total of 158 unrelated white British women (54 BRCA1/2 mutation positive and 104 BRCA1/2 mutation negative) with familial ovarian cancer were genotyped for FGFR2, TNRC9/TOX3 and CASP8 variants. The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in the familial BRCA1/2 mutation negative ovarian cancer cases (P = 0.016). The synonymous TNRC9/TOX3 (Ser51) variant was present at a significantly lower frequency than in patients with familial BRCA1/2 positive breast cancer (P = 0.0002). Our results indicate that variants in CASP8 and TNRC9/TOX3 alter the risk of disease in individuals affected with familial ovarian cancer. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Familial Cancer Springer Journals

Breast cancer susceptibility variants alter risk in familial ovarian cancer

Loading next page...
 
/lp/springer-journals/breast-cancer-susceptibility-variants-alter-risk-in-familial-ovarian-aPePN7ULyQ

References (24)

  • V. Stegel, M. Krajc, J. Zgajnar, E. Teugels, J. Grève, M. Hočevar, S. Novaković (2011)

    The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population

    BMC Medical Genetics, 12

  • R. Wilkins (2008)

    Polygenes, risk prediction, and targeted prevention of breast cancer.

    The New England journal of medicine, 359 13

  • Chunying Li, Hui-Ping Zhao, Zhibin Hu, Zhensheng Liu, Li‐E. Wang, J. Gershenwald, V. Prieto, Jeffrey Lee, M. Duvic, E. Grimm, Q. Wei (2008)

    Genetic variants and haplotypes of the caspase‐8 and caspase‐10 genes contribute to susceptibility to cutaneous melanoma

    Human Mutation, 29

  • Don Conroy, M. Shah, H. Munday, C. Jordan, B. Perkins, J. West, K. Redman, K. Driver, M. Aghmesheh, D. Amor, L. Andrews, Y. Antill, J. Armes, Shane Armitage, Leanne Arnold, R. Balleine, G. Begley, J. Beilby, Ian Bennett, B. Bennett, G. Berry, A. Blackburn, M. Brennan, Melissa Brown, Michael Buckley, J. Burke, P. Butow, K. Byron, D. Callen, I. Campbell, G. Chenevix-Trench, C. Clarke, A. Colley, Dick Cotton, J. Cui, B. Culling, M. Cummings, S. Dawson, Joann Dixon, A. Dobrovic, T. Dudding, Ted Edkins, M. Eisenbruch, G. Farshid, Susan Fawcett, M. Field, F. Firgaira, Jean Fleming, J. Forbes, M. Friedlander, C. Gaff, Mac Gardner, M. Gattas, P. George, G. Giles, G. Gill, J. Goldblatt, Sian Greening, S. Grist, E. Haan, M. Harris, S. Hart, N. Hayward, J. Hopper, Evelyn Humphrey, M. Jenkins, Alison Jones, R. Kefford, J. Kirk, J. Kollias, S. Kovalenko, S. Lakhani, J. Leary, Jacqueline Lim, G. Lindeman, L. Lipton, Lizz Lobb, Mariette Maclurcan, Graham Mann, Deb Marsh, M. Mccredie, M. McKay, S. McLachlan, B. Meiser, R. Milne, G. Mitchell, B. Newman, Imelda O’Loughlin, Lester Peters, K. Phillips, Melanie Price, J. Reeve, Tony Reeve, Gina Rinehart, Bridget Robinson, Elizabeth Salisbury, J. Sambrook, C. Saunders, C. Scott, Elizabeth Scott, Rodney Scott, A. Shelling, M. Southey, A. Spurdle, G. Suthers, Donna Taylor, Christopher Tennant, H. Thorne, S. Townshend, K. Tucker, J. Tyler, D. Venter, J. Visvader, I. Walpole, Robin Ward, P. Waring, B. Warner, G. Warren, Elizabeth Watson, Rachael Williams, Judy Wilson, I. Winship, A. Green, D. Gertig, P. Webb (2007)

    Genome-wide association study identifies novel breast cancer susceptibility loci

    Nature, 447

  • Honglin Song, S. Ramus, J. Tyrer, K. Bolton, A. Gentry-Maharaj, E. Woźniak, H. Anton-Culver, J. Chang-Claude, D. Cramer, R. Dicioccio, T. Dörk, E. Goode, M. Goodman, J. Schildkraut, T. Sellers, L. Baglietto, M. Beckmann, J. Beesley, J. Blaakaer, M. Carney, S. Chanock, Zhihua Chen, J. Cunningham, E. Dicks, J. Doherty, M. Dürst, A. Ekici, D. Fenstermacher, B. Fridley, G. Giles, M. Gore, I. Vivo, P. Hillemanns, C. Høgdall, E. Høgdall, E. Iversen, I. Jacobs, A. Jakubowska, Dong Li, J. Lissowska, J. Lubiński, G. Lurie, V. McGuire, J. McLaughlin, K. Mȩdrek, P. Moorman, K. Moysich, S. Narod, C. Phelan, C. Pye, H. Risch, I. Runnebaum, G. Severi, M. Southey, D. Stram, F. Thiel, K. Terry, Ya‐Yu Tsai, S. Tworoger, D. Berg, R. Vierkant, S. Wang-gohrke, P. Webb, L. Wilkens, A. Wu, Hannah Yang, W. Brewster, A. Ziogas, R. Houlston, I. Tomlinson, A. Whittemore, M. Rossing, B. Ponder, C. Pearce, R. Ness, U. Menon, S. Kjaer, J. Gronwald, M. García-Closas, P. Fasching, D. Easton, G. Chenevix-Trench, A. Berchuck, P. Pharoah, S. Gayther (2009)

    A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

    Nature Genetics, 41

  • S. Suela, Eva Cardeñosa, Eva González, Inmaculada Jiménez, I. González, Á. Huerta, C. Ponce, E. Dueñas, Joaquín Salcedo, Victoria Sánchez, P. Gilabert, O. Community (2009)

    CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers

    Breast Cancer Research and Treatment, 119

  • A. Latif, K. Hadfield, S. Roberts, A. Shenton, F. Lalloo, G. Black, A. Howell, D. Evans, W. Newman (2009)

    Breast cancer susceptibility variants alter risks in familial disease

    Journal of Medical Genetics, 47

  • A. Antoniou, O. Sinilnikova, L. McGuffog, S. Healey, H. Nevanlinna, T. Heikkinen, J. Simard, A. Spurdle, J. Beesley, Xiaoqing Chen, S. Neuhausen, Y. Ding, F. Couch, Xianshu Wang, Z. Fredericksen, P. Peterlongo, B. Peissel, B. Bonanni, A. Viel, L. Bernard, P. Radice, C. Szabo, L. Foretova, M. Zikan, K. Claes, M. Greene, P. Mai, G. Rennert, F. Lejbkowicz, I. Andrulis, I. Andrulis, H. Ozçelik, G. Glendon, A. Gerdes, M. Thomassen, L. Sunde, M. Caligo, Y. Laitman, T. Kontorovich, Shimrit Cohen, B. Kaufman, B. Kaufman, E. Dagan, R. Baruch, E. Friedman, K. Harbst, Gisela Barbany-Bustinza, J. Rantala, H. Ehrencrona, P. Karlsson, S. Domchek, K. Nathanson, A. Osorio, I. Blanco, A. Lasa, J. Benítez, U. Hamann, F. Hogervorst, M. Rookus, J. Collée, P. Devilee, M. Ligtenberg, R. Luijt, C. Aalfs, Q. Waisfisz, J. Wijnen, C. Roozendaal, S. Peock, M. Cook, D. Frost, Clare Oliver, Radka Platte, D. Evans, F. Lalloo, R. Eeles, L. Izatt, R. Davidson, C. Chu, D. Eccles, T. Cole, S. Hodgson, A. Godwin, D. Stoppa-Lyonnet, B. Buecher, Méanie Léoné, B. Paillerets, A. Remenieras, O. Caron, G. Lenoir, N. Sevenet, M. Longy, Sandra Ferrer, F. Prieur, D. Goldgar, A. Miron, E. John, E. John, S. Buys, M. Daly, J. Hopper, M. Terry, Yosuf Yassin, C. Singer, D. Gschwantler-Kaulich, C. Staudigl, T. Hansen, R. Barkardottir, T. Kirchhoff, P. Pal, K. Kosarin, K. Offit, M. Piedmonte, G. Rodriguez, K. Wakeley, J. Boggess, J. Basil, P. Schwartz, S. Blank, A. Toland, M. Montagna, Cinzia Casella, E. Imyanitov, Anna Allavena, R. Schmutzler, B. Versmold, C. Engel, A. Meindl, N. Ditsch, N. Arnold, D. Niederacher, H. Deissler, B. Fiebig, C. Suttner, Ines Schönbuchner, D. Gadzicki, T. Caldés, M. Hoya, K. Pooley, D. Easton, G. Chenevix-Trench (2009)

    Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

    Human molecular genetics, 18 22

  • A. Antoniou, A. Spurdle, O. Sinilnikova, S. Healey, K. Pooley, R. Schmutzler, B. Versmold, C. Engel, A. Meindl, N. Arnold, Wera Hofmann, C. Sutter, D. Niederacher, H. Deissler, T. Caldés, Kati Kämpjärvi, H. Nevanlinna, J. Simard, J. Beesley, Xiaoqing Chen, S. Neuhausen, T. Rebbeck, T. Wagner, Henry Lynch, C. Isaacs, J. Weitzel, Patricia Ganz, M. Daly, G. Tomlinson, O. Olopade, Joanne Blum, F. Couch, P. Peterlongo, S. Manoukian, M. Barile, P. Radice, C. Szabo, Lutecia Pereira, Mark Greene, G. Rennert, F. Lejbkowicz, O. Barnett‐Griness, I. Andrulis, H. Ozçelik, A. Gerdes, M. Caligo, Y. Laitman, B. Kaufman, Roni Milgrom, Eitan Friedman, S. Domchek, K. Nathanson, A. Osorio, G. Llort, R. Milne, J. Benítez, U. Hamann, Frans Hogervorst, P. Manders, M. Ligtenberg, A. Ouweland, S. Peock, M. Cook, Radka Platte, D. Evans, R. Eeles, G. Pichert, C. Chu, D. Eccles, R. Davidson, F. Douglas, Andrew Godwin, L. Barjhoux, S. Mazoyer, H. Sobol, V. Bourdon, F. Eisinger, A. Chompret, C. Capoulade, B. Paillerets, Gilbert Lenoir, M. Gauthier‐Villars, C. Houdayer, D. Stoppa-Lyonnet, G. Chenevix-Trench, D. Easton (2008)

    Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

    American journal of human genetics, 82 4

  • S. Gayther, P. Russell, P. Harrington, A. Antoniou, D. Easton, B. Ponder (1999)

    The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

    American journal of human genetics, 65 4

  • C. Engel, B. Versmold, B. Wappenschmidt, J. Simard, D. Easton, S. Peock, M. Cook, Clare Oliver, D. Frost, R. Mayes, D. Evans, R. Eeles, J. Paterson, C. Brewer, L. McGuffog, A. Antoniou, D. Stoppa-Lyonnet, O. Sinilnikova, L. Barjhoux, M. Frénay, Cécile Michel, D. Leroux, H. Dreyfus, C. Toulas, L. Gladieff, N. Uhrhammer, Y. Bignon, A. Meindl, N. Arnold, R. Varon‐Mateeva, D. Niederacher, S. Preisler‐Adams, K. Kast, H. Deissler, C. Sutter, D. Gadzicki, G. Chenevix-Trench, A. Spurdle, Xiaoqing Chen, J. Beesley, H. Olsson, U. Kristoffersson, H. Ehrencrona, A. Liljegren, R. Luijt, T. Os, F. Leeuwen, S. Domchek, T. Rebbeck, K. Nathanson, A. Osorio, T. Cajal, I. Konstantopoulou, J. Benítez, E. Friedman, B. Kaufman, Y. Laitman, P. Mai, M. Greene, H. Nevanlinna, K. Aittomäki, C. Szabo, T. Caldés, F. Couch, I. Andrulis, A. Godwin, U. Hamann, R. Schmutzler (2010)

    Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Cancer Epidemiology, Biomarkers & Prevention, 19

  • Margaret Gates, S. Tworoger, K. Terry, I. Vivo, D. Hunter, S. Hankinson, D. Cramer (2009)

    Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations

    International Journal of Cancer, 124

  • S. Ramus, R. Vierkant, S. Johnatty, M. Pike, D. Berg, A. Wu, C. Pearce, U. Menon, A. Gentry-Maharaj, S. Gayther, R. Dicioccio, V. McGuire, A. Whittemore, Honglin Song, D. Easton, P. Pharoah, M. García-Closas, S. Chanock, J. Lissowska, L. Brinton, K. Terry, D. Cramer, S. Tworoger, S. Hankinson, A. Berchuck, P. Moorman, J. Schildkraut, J. Cunningham, M. Liebow, S. Kjaer, E. Høgdall, C. Høgdall, J. Blaakaer, R. Ness, K. Moysich, R. Edwards, M. Carney, G. Lurie, M. Goodman, S. Wang-gohrke, S. Kropp, J. Chang-Claude, P. Webb, Xiaoqing Chen, J. Beesley, G. Chenevix-Trench, E. Goode (2008)

    Consortium analysis of 7 candidate SNPs for ovarian cancer

    International Journal of Cancer, 123

  • AC Antoniou, DF Easton (2003)

    Polygenic inheritance of breast cancer: implications for design of association studies

    Genet Epidemiol, 25

  • Honglin Song, S. Ramus, S. Kjaer, R. Dicioccio, G. Chenevix-Trench, C. Pearce, E. Høgdall, A. Whittemore, V. McGuire, C. Høgdall, J. Blaakaer, A. Wu, D. Berg, D. Stram, U. Menon, A. Gentry-Maharaj, I. Jacobs, P. Webb, J. Beesley, Xiaoqing Chen, M. Rossing, J. Doherty, J. Chang-Claude, S. Wang-gohrke, M. Goodman, G. Lurie, P. Thompson, M. Carney, R. Ness, K. Moysich, E. Goode, R. Vierkant, J. Cunningham, S. Anderson, J. Schildkraut, A. Berchuck, E. Iversen, P. Moorman, M. García-Closas, S. Chanock, J. Lissowska, L. Brinton, H. Anton-Culver, A. Ziogas, W. Brewster, B. Ponder, D. Easton, S. Gayther, P. Pharoah (2009)

    Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.

    Human molecular genetics, 18 12

  • (2008)

    lygenes , risk prediction , and targeted prevention of breast cancer

  • A. Antoniou, D. Easton (2003)

    EMGM Abstracts

    Annals of Human Genetics, 67

  • J. Stratton, P. Pharoah, Steven Smith, D. Easton, B. Ponder (1998)

    A systematic review and meta‐analysis of family history and risk of ovarian cancer

    BJOG: An International Journal of Obstetrics & Gynaecology, 105

  • D. Evans, K. Young, M. Bulman, A. Shenton, A. Wallace, F. Lalloo (2008)

    Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families

    Clinical Genetics, 73

  • A. Cox, A. Dunning, M. García-Closas, S. Balasubramanian, M. Reed, K. Pooley, S. Scollen, C. Baynes, B. Ponder, S. Chanock, J. Lissowska, L. Brinton, B. Pepłońska, M. Southey, J. Hopper, M. Mccredie, G. Giles, O. Fletcher, N. Johnson, I. Silva, L. Gibson, S. Bojesen, B. Nordestgaard, C. Axelsson, D. Torres, U. Hamann, C. Justenhoven, H. Brauch, J. Chang-Claude, S. Kropp, A. Risch, S. Wang-gohrke, P. Schürmann, N. Bogdanova, T. Dörk, R. Fagerholm, Kirsimari Aaltonen, C. Blomqvist, H. Nevanlinna, S. Seal, A. Renwick, M. Stratton, N. Rahman, S. Sangrajrang, D. Hughes, F. Odefrey, P. Brennan, A. Spurdle, G. Chenevix-Trench, J. Beesley, A. Mannermaa, J. Hartikainen, V. Kataja, V. Kosma, F. Couch, J. Olson, E. Goode, A. Broeks, M. Schmidt, F. Hogervorst, L. Veer, D. Kang, K. Yoo, D. Noh, S. Ahn, S. Wedrén, P. Hall, Y. Low, Jianjun Liu, R. Milne, G. Ribas, A. González-Neira, J. Benítez, A. Sigurdson, Denise Stredrick, B. Alexander, J. Struewing, P. Pharoah, D. Easton (2007)

    A common coding variant in CASP8 is associated with breast cancer risk

    Nature Genetics, 39

  • J. Bergqvist, A. Latif, S. Roberts, K. Hadfield, F. Lalloo, A. Howell, D. Evans, W. Newman (2010)

    RASSF1A polymorphism in familial breast cancer

    Familial Cancer, 9

  • T. Sergentanis, K. Economopoulos (2010)

    Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis

    Breast Cancer Research and Treatment, 120

  • JF Stratton, P Pharoah, SK Smith, D Easton, BA Ponder (1998)

    A systematic review and meta-analysis of family history and risk of ovarian cancer

    Br J Obstet Gynaecol, 105

  • A. Antoniou, D. Easton (2006)

    Risk prediction models for familial breast cancer.

    Future oncology, 2 2

Publisher
Springer Journals
Copyright
Copyright © 2010 by Springer Science+Business Media B.V.
Subject
Biomedicine; Biomedicine general; Epidemiology; Human Genetics ; Cancer Research
ISSN
1389-9600
eISSN
1573-7292
DOI
10.1007/s10689-010-9349-2
pmid
20502973
Publisher site
See Article on Publisher Site

Abstract

Recent candidate gene and genome wide association studies have revealed novel loci associated with an increased risk of breast cancer. We evaluated the effect of these breast cancer associated variants on ovarian cancer risk in individuals with familial ovarian cancer both with and without BRCA1 or BRCA2 mutations. A total of 158 unrelated white British women (54 BRCA1/2 mutation positive and 104 BRCA1/2 mutation negative) with familial ovarian cancer were genotyped for FGFR2, TNRC9/TOX3 and CASP8 variants. The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in the familial BRCA1/2 mutation negative ovarian cancer cases (P = 0.016). The synonymous TNRC9/TOX3 (Ser51) variant was present at a significantly lower frequency than in patients with familial BRCA1/2 positive breast cancer (P = 0.0002). Our results indicate that variants in CASP8 and TNRC9/TOX3 alter the risk of disease in individuals affected with familial ovarian cancer.

Journal

Familial CancerSpringer Journals

Published: May 26, 2010

There are no references for this article.