Vigorito, Elena, Kuchenbaecker, Karoline B., Beesley, Jonathan
ORCID: 0000-0003-1942-325X, Adlard, Julian
ORCID: 0000-0002-1693-0435, Agnarsson, Bjarni A., Andrulis, Irene L., Arun, Banu K., Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders
ORCID: 0000-0003-4289-8595, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian
ORCID: 0000-0002-7773-4155, Chan, Salina B., Claes, Kathleen B. M., Cohn, David E., Cook, Jackie, Daly, Mary B., Damiola, Francesca
ORCID: 0000-0002-0238-1252, Davidson, Rosemarie, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Domchek, Susan M., Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana
ORCID: 0000-0002-9935-3169, Ardnor, Christina Edwinsdotter, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D. Gareth, Feliubadalo, Lidia
ORCID: 0000-0002-1736-0112, Fostira, Florentia, Foulkes, William D., Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A., Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie
ORCID: 0000-0002-0328-3320, Giraud, Sophie, Godwin, Andrew K., Goldgar, David E., Hake, Christopher R., Hansen, Thomas V. O., Healey, Sue, Hodgson, Shirley, Hogervorst, Frans B. L., Houdayer, Claude, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna
ORCID: 0000-0002-5650-0501, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk
ORCID: 0000-0002-6205-6355, John, Esther M., Vijai, Joseph, Karlan, Beth Y., Kast, Karin, Khan, Sofia
ORCID: 0000-0003-4185-8882, Kwong, Ava
ORCID: 0000-0002-6968-9489, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne
ORCID: 0000-0001-7404-4549, Liljegren, Annelie, Lubinski, Jan
ORCID: 0000-0003-2931-3003, Mai, Phuong L., Manoukian, Siranoush, Mazoyer, Sylvie
ORCID: 0000-0002-2135-0160, Meindl, Alfons, Mensenkamp, Arjen R., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, Osorio, Ana
ORCID: 0000-0001-8124-3984, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde
ORCID: 0000-0002-9902-8040, Peissel, Bernard
ORCID: 0000-0001-9233-3571, Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Pfeiler, Georg, Phelan, Catherine M., Piedmonte, Marion, Poppe, Bruce, Angel Pujana, Miquel, Radice, Paolo
ORCID: 0000-0001-6298-4111, Rennert, Gad, Rodriguez, Gustavo C., Rookus, Matti A., Ross, Eric A., Schmutzler, Rita Katharina, Simard, Jacques, Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa
ORCID: 0000-0002-6313-9005, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tea, Muy-Kheng, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, van Rensburg, Elizabeth J., Varesco, Liliana
ORCID: 0000-0003-4871-6668, Varon-Mateeva, Raymonda, Vratimos, Athanassios, Weitzel, Jeffrey N., McGuffog, Lesley, Kirk, Judy, Toland, Amanda Ewart, Hamann, Ute, Lindor, Noralane, Ramus, Susan J., Greene, Mark H., Couch, Fergus J., Offit, Kenneth, Pharoah, Paul D. P., Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587 and Antoniou, Antonis C.
(2016).
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
PLoS One, 11 (7).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Full text not available from this repository.
Abstract
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95% CI: 0.68 to 0.79, p-value 2x 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95% CI: 0.59 to 0.80, p-value 1.0 x 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Vigorito, Elena | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kuchenbaecker, Karoline B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beesley, Jonathan | UNSPECIFIED | orcid.org/0000-0003-1942-325X | UNSPECIFIED | Adlard, Julian | UNSPECIFIED | orcid.org/0000-0002-1693-0435 | UNSPECIFIED | Agnarsson, Bjarni A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arun, Banu K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barjhoux, Laure | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Belotti, Muriel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Berger, Andreas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Anders | UNSPECIFIED | orcid.org/0000-0003-4289-8595 | UNSPECIFIED | Bonanni, Bernardo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brewer, Carole | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Caldes, Trinidad | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Caligo, Maria A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Campbell, Ian | UNSPECIFIED | orcid.org/0000-0002-7773-4155 | UNSPECIFIED | Chan, Salina B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Claes, Kathleen B. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cohn, David E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cook, Jackie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Daly, Mary B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Damiola, Francesca | UNSPECIFIED | orcid.org/0000-0002-0238-1252 | UNSPECIFIED | Davidson, Rosemarie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de Pauw, Antoine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Delnatte, Capucine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Diez, Orland | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Domchek, Susan M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dumont, Martine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Durda, Katarzyna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dworniczak, Bernd | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Easton, Douglas F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Eccles, Diana | UNSPECIFIED | orcid.org/0000-0002-9935-3169 | UNSPECIFIED | Ardnor, Christina Edwinsdotter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Eeles, Ros | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ejlertsen, Bent | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ellis, Steve | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Evans, D. Gareth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Feliubadalo, Lidia | UNSPECIFIED | orcid.org/0000-0002-1736-0112 | UNSPECIFIED | Fostira, Florentia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Foulkes, William D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Friedman, Eitan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Frost, Debra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gaddam, Pragna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ganz, Patricia A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garber, Judy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Barberan, Vanesa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gauthier-Villars, Marion | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gehrig, Andrea | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gerdes, Anne-Marie | UNSPECIFIED | orcid.org/0000-0002-0328-3320 | UNSPECIFIED | Giraud, Sophie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Godwin, Andrew K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldgar, David E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hake, Christopher R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hansen, Thomas V. O. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Healey, Sue | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hodgson, Shirley | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hogervorst, Frans B. L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Houdayer, Claude | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hulick, Peter J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Imyanitov, Evgeny N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Isaacs, Claudine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Izatt, Louise | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Izquierdo, Angel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jacobs, Lauren | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jakubowska, Anna | UNSPECIFIED | orcid.org/0000-0002-5650-0501 | UNSPECIFIED | Janavicius, Ramunas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jaworska-Bieniek, Katarzyna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jensen, Uffe Birk | UNSPECIFIED | orcid.org/0000-0002-6205-6355 | UNSPECIFIED | John, Esther M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vijai, Joseph | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Karlan, Beth Y. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kast, Karin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Khan, Sofia | UNSPECIFIED | orcid.org/0000-0003-4185-8882 | UNSPECIFIED | Kwong, Ava | UNSPECIFIED | orcid.org/0000-0002-6968-9489 | UNSPECIFIED | Laitman, Yael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lester, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lesueur, Fabienne | UNSPECIFIED | orcid.org/0000-0001-7404-4549 | UNSPECIFIED | Liljegren, Annelie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lubinski, Jan | UNSPECIFIED | orcid.org/0000-0003-2931-3003 | UNSPECIFIED | Mai, Phuong L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Manoukian, Siranoush | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mazoyer, Sylvie | UNSPECIFIED | orcid.org/0000-0002-2135-0160 | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mensenkamp, Arjen R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Montagna, Marco | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nathanson, Katherine L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Neuhausen, Susan L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nevanlinna, Heli | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Niederacher, Dieter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Olah, Edith | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Olopade, Olufunmilayo I. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ong, Kai-ren | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Osorio, Ana | UNSPECIFIED | orcid.org/0000-0001-8124-3984 | UNSPECIFIED | Park, Sue Kyung | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Paulsson-Karlsson, Ylva | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pedersen, Inge Sokilde | UNSPECIFIED | orcid.org/0000-0002-9902-8040 | UNSPECIFIED | Peissel, Bernard | UNSPECIFIED | orcid.org/0000-0001-9233-3571 | UNSPECIFIED | Peterlongo, Paolo | UNSPECIFIED | orcid.org/0000-0001-6951-6855 | UNSPECIFIED | Pfeiler, Georg | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Phelan, Catherine M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Piedmonte, Marion | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Poppe, Bruce | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Angel Pujana, Miquel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Rennert, Gad | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rodriguez, Gustavo C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rookus, Matti A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ross, Eric A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita Katharina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Simard, Jacques | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Singer, Christian F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Slavin, Thomas P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Soucy, Penny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa | UNSPECIFIED | orcid.org/0000-0002-6313-9005 | UNSPECIFIED | Steinemann, Doris | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stoppa-Lyonnet, Dominique | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sukiennicki, Grzegorz | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sutter, Christian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Szabo, Csilla I. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tea, Muy-Kheng | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teixeira, Manuel R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teo, Soo-Hwang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Terry, Mary Beth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thomassen, Mads | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tibiletti, Maria Grazia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tihomirova, Laima | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tognazzo, Silvia | UNSPECIFIED | orcid.org/0000-0002-6260-1261 | UNSPECIFIED | van Rensburg, Elizabeth J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Varesco, Liliana | UNSPECIFIED | orcid.org/0000-0003-4871-6668 | UNSPECIFIED | Varon-Mateeva, Raymonda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vratimos, Athanassios | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Weitzel, Jeffrey N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | McGuffog, Lesley | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kirk, Judy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Toland, Amanda Ewart | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hamann, Ute | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lindor, Noralane | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ramus, Susan J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Greene, Mark H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Offit, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pharoah, Paul D. P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chenevix-Trench, Georgia | UNSPECIFIED | orcid.org/0000-0002-1878-2587 | UNSPECIFIED | Antoniou, Antonis C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
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URN: |
urn:nbn:de:hbz:38-269522 |
DOI: |
10.1371/journal.pone.0158801 |
Journal or Publication Title: |
PLoS One |
Volume: |
11 |
Number: |
7 |
Date: |
2016 |
Publisher: |
PUBLIC LIBRARY SCIENCE |
Place of Publication: |
SAN FRANCISCO |
ISSN: |
1932-6203 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; BREAST; INVESTIGATORS; CONSORTIUM; PATHOLOGY; CENTLEIN | Multiple languages | Multidisciplinary Sciences | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/26952 |
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