Mostrar el registro sencillo del ítem
Two truncating variants in FANCC and breast cancer risk
dc.contributor.author | Dörk, T. | |
dc.contributor.author | Peterlongo, P. | |
dc.contributor.author | Mannermaa, A. | |
dc.contributor.author | Bolla, M. K. | |
dc.contributor.author | Wang, Q. | |
dc.contributor.author | Dennis, J. | |
dc.contributor.author | Ahearn, T. | |
dc.contributor.author | Andrulis, I. L. | |
dc.contributor.author | Anton-Culver, H. | |
dc.contributor.author | Arndt, V. | |
dc.contributor.author | Aronson, K. J. | |
dc.contributor.author | Augustinsson, A. | |
dc.contributor.author | Freeman, L. E. B. | |
dc.contributor.author | Beckmann, M. W. | |
dc.contributor.author | Beeghly-Fadiel, A. | |
dc.contributor.author | Behrens, S. | |
dc.contributor.author | Bermisheva, M. | |
dc.contributor.author | Blomqvist, C. | |
dc.contributor.author | Bogdanova, N. V. | |
dc.contributor.author | Bojesen, S. E. | |
dc.contributor.author | Brauch, H. | |
dc.contributor.author | Brenner, H. | |
dc.contributor.author | Burwinkel, B. | |
dc.contributor.author | Canzian, F. | |
dc.contributor.author | Chan, T. L. | |
dc.contributor.author | Chang-Claude, J. | |
dc.contributor.author | Chanock, S. J. | |
dc.contributor.author | Choi, J. Y. | |
dc.contributor.author | Christiansen, H. | |
dc.contributor.author | Clarke, C. L. | |
dc.contributor.author | Couch, F. J. | |
dc.contributor.author | Czene, K. | |
dc.contributor.author | Daly, M. B. | |
dc.contributor.author | Dos-Santos-Silva, I. | |
dc.contributor.author | Dwek, M. | |
dc.contributor.author | Eccles, D. M. | |
dc.contributor.author | Ekici, A. B. | |
dc.contributor.author | Eriksson, M. | |
dc.contributor.author | Evans, D. G. | |
dc.contributor.author | Fasching, P. A. | |
dc.contributor.author | Figueroa, J. | |
dc.contributor.author | Flyger, H. | |
dc.contributor.author | Fritschi, L. | |
dc.contributor.author | Gabrielson, M. | |
dc.contributor.author | Gago Dominguez, Manuela | |
dc.contributor.author | Gao, C. | |
dc.contributor.author | Gapstur, S. M. | |
dc.contributor.author | García-Closas, M. | |
dc.contributor.author | García-Sáenz, J. A. | |
dc.contributor.author | Gaudet, M. M. | |
dc.contributor.author | Giles, G. G. | |
dc.contributor.author | Goldberg, M. S. | |
dc.contributor.author | Goldgar, D. E. | |
dc.contributor.author | Guénel, P. | |
dc.contributor.author | Haeberle, L. | |
dc.contributor.author | Haiman, C. A. | |
dc.contributor.author | Håkansson, N. | |
dc.contributor.author | Hall, P. | |
dc.contributor.author | Hamann, U. | |
dc.contributor.author | Hartman, M. | |
dc.contributor.author | Hauke, J. | |
dc.contributor.author | Hein, A. | |
dc.contributor.author | Hillemanns, P. | |
dc.contributor.author | Hogervorst, F. B. L. | |
dc.contributor.author | Hooning, M. J. | |
dc.contributor.author | Hopper, J. L. | |
dc.contributor.author | Howell, T. | |
dc.contributor.author | Huo, D. | |
dc.contributor.author | Ito, H. | |
dc.contributor.author | Iwasaki, M. | |
dc.contributor.author | Jakubowska, A. | |
dc.contributor.author | Janni, W. | |
dc.contributor.author | John, E. M. | |
dc.contributor.author | Jung, A. | |
dc.contributor.author | Kaaks, R. | |
dc.contributor.author | Kang, D. | |
dc.contributor.author | Kapoor, P. M. | |
dc.contributor.author | Khusnutdinova, E. | |
dc.contributor.author | Kim, S. W. | |
dc.contributor.author | Kitahara, C. M. | |
dc.contributor.author | Koutros, S. | |
dc.contributor.author | Kraft, P. | |
dc.contributor.author | Kristensen, V. N. | |
dc.contributor.author | Kwong, A. | |
dc.contributor.author | Lambrechts, D. | |
dc.contributor.author | Marchand, L. L. | |
dc.contributor.author | Li, J. | |
dc.contributor.author | Lindström, S. | |
dc.contributor.author | Linet, M. | |
dc.contributor.author | Lo, W. Y. | |
dc.contributor.author | Long, J. | |
dc.contributor.author | Lophatananon, A. | |
dc.contributor.author | Lubiński, J. | |
dc.contributor.author | Manoochehri, M. | |
dc.contributor.author | Manoukian, S. | |
dc.contributor.author | Margolin, S. | |
dc.contributor.author | Martinez, E. | |
dc.contributor.author | Matsuo, K. | |
dc.contributor.author | Mavroudis, D. | |
dc.contributor.author | Meindl, A. | |
dc.contributor.author | Menon, U. | |
dc.contributor.author | Milne, R. L. | |
dc.contributor.author | Mohd Taib, N. A. | |
dc.contributor.author | Muir, K. | |
dc.contributor.author | Mulligan, A. M. | |
dc.contributor.author | Neuhausen, S. L. | |
dc.contributor.author | Nevanlinna, H. | |
dc.contributor.author | Neven, P. | |
dc.contributor.author | Newman, W. G. | |
dc.contributor.author | Offit, K. | |
dc.contributor.author | Olopade, O. I. | |
dc.contributor.author | Olshan, A. F. | |
dc.contributor.author | Olson, J. E. | |
dc.contributor.author | Olsson, H. | |
dc.contributor.author | Park, S. K. | |
dc.contributor.author | Park-Simon, T. W. | |
dc.contributor.author | Peto, J. | |
dc.contributor.author | Plaseska-Karanfilska, D. | |
dc.contributor.author | Pohl-Rescigno, E. | |
dc.contributor.author | Presneau, N. | |
dc.contributor.author | Rack, B. | |
dc.contributor.author | Radice, P. | |
dc.contributor.author | Rashid, M. U. | |
dc.contributor.author | Rennert, G. | |
dc.contributor.author | Rennert, H. S. | |
dc.contributor.author | Romero, A. | |
dc.contributor.author | Ruebner, M. | |
dc.contributor.author | Saloustros, E. | |
dc.contributor.author | Schmidt, M. K. | |
dc.contributor.author | Schmutzler, R. K. | |
dc.contributor.author | Schneider, M. O. | |
dc.contributor.author | Schoemaker, M. J. | |
dc.contributor.author | Scott, C. | |
dc.contributor.author | Shen, C. Y. | |
dc.contributor.author | Shu, X. O. | |
dc.contributor.author | Simard, J. | |
dc.contributor.author | Slager, S. | |
dc.contributor.author | Smichkoska, S. | |
dc.contributor.author | Southey, M. C. | |
dc.contributor.author | Spinelli, J. J. | |
dc.contributor.author | Stone, J. | |
dc.contributor.author | Surowy, H. | |
dc.contributor.author | Swerdlow, A. J. | |
dc.contributor.author | Tamimi, R. M. | |
dc.contributor.author | Tapper, W. J. | |
dc.contributor.author | Teo, S. H. | |
dc.contributor.author | Terry, M. B. | |
dc.contributor.author | Toland, A. E. | |
dc.contributor.author | Tollenaar, R. A. E.M | |
dc.contributor.author | Torres, D. | |
dc.contributor.author | Torres-Mejía, G. | |
dc.contributor.author | Troester, M. A. | |
dc.contributor.author | Truong, T. | |
dc.contributor.author | Tsugane, S. | |
dc.contributor.author | Untch, M. | |
dc.contributor.author | Vachon, C. M. | |
dc.contributor.author | Ouweland, A. M. W.VD | |
dc.contributor.author | Veen, E. M. V. | |
dc.contributor.author | Vijai, J. | |
dc.contributor.author | Wendt, C. | |
dc.contributor.author | Wolk, A. | |
dc.contributor.author | Yu, J. C. | |
dc.contributor.author | Zheng, W. | |
dc.contributor.author | Ziogas, A. | |
dc.contributor.author | Ziv, E. | |
dc.contributor.author | Dunning, A. M. | |
dc.contributor.author | Pharoah, P. D. P. | |
dc.contributor.author | Schindler, D. | |
dc.contributor.author | Devilee, P. | |
dc.contributor.author | Easton, D. F. | |
dc.contributor.author | Investigators, ABCTB | |
dc.contributor.author | Collaborators, NBCS | |
dc.date.accessioned | 2021-10-04T09:39:01Z | |
dc.date.available | 2021-10-04T09:39:01Z | |
dc.date.issued | 2019 | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.other | https://www.ncbi.nlm.nih.gov/pubmed/31467304 | es |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/15426 | |
dc.description.abstract | Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants. | en |
dc.language.iso | eng | |
dc.rights | Atribución 4.0 Internacional | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject.mesh | Humans | * |
dc.subject.mesh | Genetic Variation | * |
dc.subject.mesh | Case-Control Studies | * |
dc.subject.mesh | Genetic Predisposition to Disease | * |
dc.title | Two truncating variants in FANCC and breast cancer risk | es |
dc.type | Artigo | es |
dc.authorsophos | Dörk, T. | |
dc.authorsophos | Peterlongo, P. | |
dc.authorsophos | Mannermaa, A. | |
dc.authorsophos | Bolla, M. K. | |
dc.authorsophos | Wang, Q. | |
dc.authorsophos | Dennis, J. | |
dc.authorsophos | Ahearn, T. | |
dc.authorsophos | Andrulis, I. L. | |
dc.authorsophos | Anton-Culver, H. | |
dc.authorsophos | Arndt, V. | |
dc.authorsophos | Aronson, K. J. | |
dc.authorsophos | Augustinsson, A. | |
dc.authorsophos | Freeman, L. E. B. | |
dc.authorsophos | Beckmann, M. W. | |
dc.authorsophos | Beeghly-Fadiel, A. | |
dc.authorsophos | Behrens, S. | |
dc.authorsophos | Bermisheva, M. | |
dc.authorsophos | Blomqvist, C. | |
dc.authorsophos | Bogdanova, N. V. | |
dc.authorsophos | Bojesen, S. E. | |
dc.authorsophos | Brauch, H. | |
dc.authorsophos | Brenner, H. | |
dc.authorsophos | Burwinkel, B. | |
dc.authorsophos | Canzian, F. | |
dc.authorsophos | Chan, T. L. | |
dc.authorsophos | Chang-Claude, J. | |
dc.authorsophos | Chanock, S. J. | |
dc.authorsophos | Choi, J. Y. | |
dc.authorsophos | Christiansen, H. | |
dc.authorsophos | Clarke, C. L. | |
dc.authorsophos | Couch, F. J. | |
dc.authorsophos | Czene, K. | |
dc.authorsophos | Daly, M. B. | |
dc.authorsophos | Dos-Santos-Silva, I. | |
dc.authorsophos | Dwek, M. | |
dc.authorsophos | Eccles, D. M. | |
dc.authorsophos | Ekici, A. B. | |
dc.authorsophos | Eriksson, M. | |
dc.authorsophos | Evans, D. G. | |
dc.authorsophos | Fasching, P. A. | |
dc.authorsophos | Figueroa, J. | |
dc.authorsophos | Flyger, H. | |
dc.authorsophos | Fritschi, L. | |
dc.authorsophos | Gabrielson, M. | |
dc.authorsophos | Gago-Dominguez, M. | |
dc.authorsophos | Gao, C. | |
dc.authorsophos | Gapstur, S. M. | |
dc.authorsophos | García-Closas, M. | |
dc.authorsophos | García-Sáenz, J. A. | |
dc.authorsophos | Gaudet, M. M. | |
dc.authorsophos | Giles, G. G. | |
dc.authorsophos | Goldberg, M. S. | |
dc.authorsophos | Goldgar, D. E. | |
dc.authorsophos | Guénel, P. | |
dc.authorsophos | Haeberle, L. | |
dc.authorsophos | Haiman, C. A. | |
dc.authorsophos | Håkansson, N. | |
dc.authorsophos | Hall, P. | |
dc.authorsophos | Hamann, U. | |
dc.authorsophos | Hartman, M. | |
dc.authorsophos | Hauke, J. | |
dc.authorsophos | Hein, A. | |
dc.authorsophos | Hillemanns, P. | |
dc.authorsophos | Hogervorst, F. B. L. | |
dc.authorsophos | Hooning, M. J. | |
dc.authorsophos | Hopper, J. L. | |
dc.authorsophos | Howell, T. | |
dc.authorsophos | Huo, D. | |
dc.authorsophos | Ito, H. | |
dc.authorsophos | Iwasaki, M. | |
dc.authorsophos | Jakubowska, A. | |
dc.authorsophos | Janni, W. | |
dc.authorsophos | John, E. M. | |
dc.authorsophos | Jung, A. | |
dc.authorsophos | Kaaks, R. | |
dc.authorsophos | Kang, D. | |
dc.authorsophos | Kapoor, P. M. | |
dc.authorsophos | Khusnutdinova, E. | |
dc.authorsophos | Kim, S. W. | |
dc.authorsophos | Kitahara, C. M. | |
dc.authorsophos | Koutros, S. | |
dc.authorsophos | Kraft, P. | |
dc.authorsophos | Kristensen, V. N. | |
dc.authorsophos | Kwong, A. | |
dc.authorsophos | Lambrechts, D. | |
dc.authorsophos | Marchand, L. L. | |
dc.authorsophos | Li, J. | |
dc.authorsophos | Lindström, S. | |
dc.authorsophos | Linet, M. | |
dc.authorsophos | Lo, W. Y. | |
dc.authorsophos | Long, J. | |
dc.authorsophos | Lophatananon, A. | |
dc.authorsophos | Lubiński, J. | |
dc.authorsophos | Manoochehri, M. | |
dc.authorsophos | Manoukian, S. | |
dc.authorsophos | Margolin, S. | |
dc.authorsophos | Martinez, E. | |
dc.authorsophos | Matsuo, K. | |
dc.authorsophos | Mavroudis, D. | |
dc.authorsophos | Meindl, A. | |
dc.authorsophos | Menon, U. | |
dc.authorsophos | Milne, R. L. | |
dc.authorsophos | Mohd Taib, N. A. | |
dc.authorsophos | Muir, K. | |
dc.authorsophos | Mulligan, A. M. | |
dc.authorsophos | Neuhausen, S. L. | |
dc.authorsophos | Nevanlinna, H. | |
dc.authorsophos | Neven, P. | |
dc.authorsophos | Newman, W. G. | |
dc.authorsophos | Offit, K. | |
dc.authorsophos | Olopade, O. I. | |
dc.authorsophos | Olshan, A. F. | |
dc.authorsophos | Olson, J. E. | |
dc.authorsophos | Olsson, H. | |
dc.authorsophos | Park, S. K. | |
dc.authorsophos | Park-Simon, T. W. | |
dc.authorsophos | Peto, J. | |
dc.authorsophos | Plaseska-Karanfilska, D. | |
dc.authorsophos | Pohl-Rescigno, E. | |
dc.authorsophos | Presneau, N. | |
dc.authorsophos | Rack, B. | |
dc.authorsophos | Radice, P. | |
dc.authorsophos | Rashid, M. U. | |
dc.authorsophos | Rennert, G. | |
dc.authorsophos | Rennert, H. S. | |
dc.authorsophos | Romero, A. | |
dc.authorsophos | Ruebner, M. | |
dc.authorsophos | Saloustros, E. | |
dc.authorsophos | Schmidt, M. K. | |
dc.authorsophos | Schmutzler, R. K. | |
dc.authorsophos | Schneider, M. O. | |
dc.authorsophos | Schoemaker, M. J. | |
dc.authorsophos | Scott, C. | |
dc.authorsophos | Shen, C. Y. | |
dc.authorsophos | Shu, X. O. | |
dc.authorsophos | Simard, J. | |
dc.authorsophos | Slager, S. | |
dc.authorsophos | Smichkoska, S. | |
dc.authorsophos | Southey, M. C. | |
dc.authorsophos | Spinelli, J. J. | |
dc.authorsophos | Stone, J. | |
dc.authorsophos | Surowy, H. | |
dc.authorsophos | Swerdlow, A. J. | |
dc.authorsophos | Tamimi, R. M. | |
dc.authorsophos | Tapper, W. J. | |
dc.authorsophos | Teo, S. H. | |
dc.authorsophos | Terry, M. B. | |
dc.authorsophos | Toland, A. E. | |
dc.authorsophos | Tollenaar, R. A. E.M | |
dc.authorsophos | Torres, D. | |
dc.authorsophos | Torres-Mejía, G. | |
dc.authorsophos | Troester, M. A. | |
dc.authorsophos | Truong, T. | |
dc.authorsophos | Tsugane, S. | |
dc.authorsophos | Untch, M. | |
dc.authorsophos | Vachon, C. M. | |
dc.authorsophos | Ouweland, A. M. W.VD | |
dc.authorsophos | Veen, E. M. V. | |
dc.authorsophos | Vijai, J. | |
dc.authorsophos | Wendt, C. | |
dc.authorsophos | Wolk, A. | |
dc.authorsophos | Yu, J. C. | |
dc.authorsophos | Zheng, W. | |
dc.authorsophos | Ziogas, A. | |
dc.authorsophos | Ziv, E. | |
dc.authorsophos | Dunning, A. M. | |
dc.authorsophos | Pharoah, P. D. P. | |
dc.authorsophos | Schindler, D. | |
dc.authorsophos | Devilee, P. | |
dc.authorsophos | Easton, D. F. | |
dc.authorsophos | Investigators, ABCTB | |
dc.authorsophos | Collaborators, NBCS | |
dc.identifier.doi | 10.1038/s41598-019-48804-y | |
dc.identifier.pmid | 31467304 | |
dc.identifier.sophos | 30689 | |
dc.issue.number | 1 | es |
dc.journal.title | Scientific Reports | es |
dc.organization | Servizo Galego de Saúde::Dirección Xeral de Asistencia Sanitaria::Fundación Pública Galega de Medicina Xenómica | |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) | |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Xenética | |
dc.page.initial | 12524 | es |
dc.relation.publisherversion | https://escholarship.org/content/qt3qv7j31z/qt3qv7j31z.pdf?t=pyui6k | |
dc.rights.accessRights | openAccess | |
dc.subject.decs | variación genética | * |
dc.subject.decs | estudios de casos y controles | * |
dc.subject.decs | humanos | * |
dc.subject.decs | predisposición genética a la enfermedad | * |
dc.subject.keyword | FPGMX | |
dc.subject.keyword | IDIS | |
dc.subject.keyword | CHUS | |
dc.typefides | Artículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis) | |
dc.typesophos | Artículo Original | |
dc.volume.number | 9 | es |
Ficheros en el ítem
Este ítem aparece en la(s) siguiente(s) colección(ones)
![](/xmlui/themes/Mirage2//images/final_lines.png)