Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, OCGN, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Hakan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per, Askmalm, Marie Stenmark, Borg, Ake, Neuhausen, Susan L., Ding, Yuan Chun, Nathanson, Katherine L., Domchek, Susan M., Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Bohdan Gorski, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Duran, Mercedes, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst. Madeleine A., Vreeswijk, Maaike P., Bodmer, Daniel, Ausems, Margreet G. E. M., van Os, Theo A., Asperen, Christi J., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., HEBON, EMBRACE, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Dunning, Alison M., Evans, D. Gareth, Eeles, Ros, Pichert, Gabriella, Cole, Trevor, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Kennedy, M. John, Rogers, Mark T., Side, Lucy E., Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Moncourtier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Barjhoux, Laure, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, GEMO Study Collaborators, Miron, Alex, Buys, Saundra S., Hopper, John L., Daly, Mary B., John, Esther M., Terry, Mary Beth, Goldgar, David, BCFR, Hansen, Thomas V. O., Jonson, Lars, Ejlertsen, Bent, Agnarsson, Bjarni A., Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, Dutra-Clarke, Ana V. C., Przybylo, Jennifer A., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, Moysich, Kirsten B., Karlan, Beth Y., Gross, Jenny, Beattie, Mary S., Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Ruehl, Ina, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomaki, Kristiina, Simard, Jacques, Soucy, Penny, kConFab Investigators, Spurdle, Amanda B., Holland, Helene, Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., on behalf of Consortium of Investigators of Modifiers of BRCA1/2, Brown, Melissa, Cummings, Margaret and Lakhani, Sunil (2011) Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institiute, 103 2: 105-116. doi:10.1093/jnci/djq494

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Author Ramus, Susan J.
Kartsonaki, Christiana
Gayther, Simon A.
Pharoah, Paul D. P.
Sinilnikova, Olga M.
Beesley, Jonathan
Chen, Xiaoqing
McGuffog, Lesley
Healey, Sue
Couch, Fergus J.
Wang, Xianshu
Fredericksen, Zachary
Peterlongo, Paolo
Manoukian, Siranoush
Peissel, Bernard
Zaffaroni, Daniela
Roversi, Gaia
Barile, Monica
Viel, Alessandra
Allavena, Anna
Ottini, Laura
Papi, Laura
Gismondi, Viviana
Capra, Fabio
Radice, Paolo
Greene, Mark H.
Mai, Phuong L.
Andrulis, Irene L.
Glendon, Gord
Ozcelik, Hilmi
OCGN
Thomassen, Mads
Gerdes, Anne-Marie
Kruse, Torben A.
Cruger, Dorthe
Jensen, Uffe Birk
Caligo, Maria Adelaide
Olsson, Hakan
Kristoffersson, Ulf
Lindblom, Annika
Arver, Brita
Karlsson, Per
Askmalm, Marie Stenmark
Borg, Ake
Neuhausen, Susan L.
Ding, Yuan Chun
Nathanson, Katherine L.
Domchek, Susan M.
Jakubowska, Anna
Lubinski, Jan
Huzarski, Tomasz
Byrski, Tomasz
Gronwald, Jacek
Bohdan Gorski
Cybulski, Cezary
Debniak, Tadeusz
Osorio, Ana
Duran, Mercedes
Tejada, Maria-Isabel
Benitez, Javier
Hamann, Ute
Rookus, Matti A.
Verhoef, Senno
Tilanus-Linthorst. Madeleine A.
Vreeswijk, Maaike P.
Bodmer, Daniel
Ausems, Margreet G. E. M.
van Os, Theo A.
Asperen, Christi J.
Blok, Marinus J.
Meijers-Heijboer, Hanne E. J.
HEBON
EMBRACE
Peock, Susan
Cook, Margaret
Oliver, Clare
Frost, Debra
Dunning, Alison M.
Evans, D. Gareth
Eeles, Ros
Pichert, Gabriella
Cole, Trevor
Hodgson, Shirley
Brewer, Carole
Morrison, Patrick J.
Porteous, Mary
Kennedy, M. John
Rogers, Mark T.
Side, Lucy E.
Donaldson, Alan
Gregory, Helen
Godwin, Andrew
Stoppa-Lyonnet, Dominique
Moncourtier, Virginie
Castera, Laurent
Mazoyer, Sylvie
Barjhoux, Laure
Bonadona, Valerie
Leroux, Dominique
Faivre, Laurence
Lidereau, Rosette
Nogues, Catherine
Bignon, Yves-Jean
Prieur, Fabienne
Collonge-Rame, Marie-Agnes
Venat-Bouvet, Laurence
Fert-Ferrer, Sandra
GEMO Study Collaborators
Miron, Alex
Buys, Saundra S.
Hopper, John L.
Daly, Mary B.
John, Esther M.
Terry, Mary Beth
Goldgar, David
BCFR
Hansen, Thomas V. O.
Jonson, Lars
Ejlertsen, Bent
Agnarsson, Bjarni A.
Offit, Kenneth
Kirchhoff, Tomas
Vijai, Joseph
Dutra-Clarke, Ana V. C.
Przybylo, Jennifer A.
Montagna, Marco
Casella, Cinzia
Imyanitov, Evgeny N.
Janavicius, Ramunas
Blanco, Ignacio
Lazaro, Conxi
Moysich, Kirsten B.
Karlan, Beth Y.
Gross, Jenny
Beattie, Mary S.
Schmutzler, Rita
Wappenschmidt, Barbara
Meindl, Alfons
Ruehl, Ina
Fiebig, Britta
Sutter, Christian
Arnold, Norbert
Deissler, Helmut
Varon-Mateeva, Raymonda
Kast, Karin
Niederacher, Dieter
Gadzicki, Dorothea
Caldes, Trinidad
de la Hoya, Miguel
Nevanlinna, Heli
Aittomaki, Kristiina
Simard, Jacques
Soucy, Penny
kConFab Investigators
Spurdle, Amanda B.
Holland, Helene
Chenevix-Trench, Georgia
Easton, Douglas F.
Antoniou, Antonis C.
on behalf of Consortium of Investigators of Modifiers of BRCA1/2
Brown, Melissa
Cummings, Margaret
Lakhani, Sunil
Title Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
Journal name Journal of the National Cancer Institiute   Check publisher's open access policy
ISSN 0027-8874
1460-2105
Publication date 2011-01-19
Year available 2010
Sub-type Article (original research)
DOI 10.1093/jnci/djq494
Volume 103
Issue 2
Start page 105
End page 116
Total pages 12
Place of publication Oxford, U.K.
Publisher Oxford University Press
Collection year 2011
Language eng
Formatted abstract
Background: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2.
Methods: We genotyped rs3814113 in 10029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided.
Results: The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 × 10-9) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 × 10-4). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%.
Conclusion: Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation.
Keyword Genome-wide association
Germline mutations
Basonuclin-2
Susceptibility loci
Breast-cancer
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes First published online: December 17, 2010.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
ERA 2012 Admin Only
School of Medicine Publications
 
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Created: Fri, 08 Apr 2011, 16:30:56 EST by Debbie Banks on behalf of School of Medicine