Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Genome of the Netherlands Project"'
Autor:
Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A. Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G. E. M. Ausems, Riccardo Berutti, Manjeet K. Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R. Dufault, Alison M. Dunning, Christoph Engel, Andrea Gehrig, Willemina R. R. Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B. L. Hogervorst, Antoinette Hollestelle, Maartje J. Hooning, Judit Horváth, M. Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W. M. Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D. P. Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M. Strom, Christian Sutter, Holger Thiele, Christi J. van Asperen, Lizet van der Kolk, Rob B. van der Luijt, Alexander E. Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H. F. Weber, Genome of the Netherlands Project, GHS Study Group, Peter Devilee, Sean Tavtigian, Gary D. Bader, Alfons Meindl, David E. Goldgar, Irene L. Andrulis, Rita K. Schmutzler, Douglas F. Easton, Marjanka K. Schmidt, Eric Hahnen, Jacques Simard
Publikováno v:
Cancers, Vol 14, Iss 14, p 3363 (2022)
Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide association studies, e
Externí odkaz:
https://doaj.org/article/5080cce8aedf47dfa6606539b6a2f607
Autor:
Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A, Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet GEM, Berutti, Riccardo, Bolla, Manjeet K, Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R, Dunning, Alison M, Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina RR, Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Horváth, Judit, Ikram, M Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John WM, Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul DP, Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M, Sutter, Christian, Thiele, Holger, Van Asperen, Christi J, Van Der Kolk, Lizet, Van Der Luijt, Rob B, Volk, Alexander E, Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard HF, Genome Of The Netherlands Project, Ghs Study Group, Devilee, Peter, Tavtigian, Sean, Bader, Gary D, Meindl, Alfons, Goldgar, David E, Andrulis, Irene L, Schmutzler, Rita K, Easton, Douglas F, Schmidt, Marjanka K, Hahnen, Eric, Simard, Jacques
Publikováno v:
Genome of the Netherlands Project & GHS Study Group 2022, ' Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry ', Cancers, vol. 14, no. 14, 3363 . https://doi.org/10.3390/cancers14143363
Cancers 14(14), 3363 (2022). doi:10.3390/cancers14143363 special issue: "Hereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment"
Cancers; Volume 14; Issue 14; Pages: 3363
Cancers, 14(14):3363. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers 14:3363 (2022)
Cancers, 14(14). MDPI
Cancers 14(14), 3363 (2022). doi:10.3390/cancers14143363 special issue: "Hereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment"
Cancers; Volume 14; Issue 14; Pages: 3363
Cancers, 14(14):3363. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers 14:3363 (2022)
Cancers, 14(14). MDPI
Simple Summary Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a54770ad7b1420b818d896882095ad9
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/28176
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/28176
Autor:
Kim, A., Savary, C., Dubourg, C., Carre, W., Mouden, C., Hamdi-Roze, H., Guyodo, H., Douce, J. le, Pasquier, L., Flori, E., Gonzales, M., Beneteau, C., Boute, O., Attie-Bitach, T., Roume, J., Goujon, L., Akloul, L., Odent, S., Watrin, E., Dupe, V., Tayrac, M. de, David, V., Genin, E., Campion, D., Dartigues, J.F.C.O., Deleuze, J.F., Lambert, J.C., Redon, R., Ludwig, T., Grenier-Boley, B., Letort, S., Lindenbaum, P., Meyer, V., Quenez, O., Dina, C., Bellenguez, C., Charbonnier-Le Clezio, C., Giemza, J., Chatel, S., Ferec, C., Marec, H. le, Letenneur, L., Nicolas, G., Rouault, K., Bacq, D., Boland, A., Lechner, D., Wijmenga, C., Swertz, M.A., Slagboom, P.E., Ommen, G.J.B. van, Duijn, C.M. van, Boomsma, D.I., Bakker, P.I.W. de, Bovenberg, J.A., Craen, A.J.M. de, Beekman, M., Hofman, A., Willemsen, G., Wolffenbuttel, B., Platteel, M., Y.P. du, Chen, R.Y., Cao, H.Z., Cao, R., Sun, Y.S., Cao, J.S., Dijk, F. van, Neerincx, P.B.T., Deelen, P., Dijkstra, M., Byelas, G., Kanterakis, A., Bot, J., Ye, K., Lameijer, E.W., Vermaat, M., Laros, J.F.J., Dunnen, J.T. den, Knijff, P. de, Karssen, L.C., Leeuwen, E.M. van, Amin, N., Koval, V., Rivadeneira, F., Estrada, K., Hehirkwa, J.Y., Ligt, J. de, Abdellaoui, A., Hottenga, J.J., Kattenberg, V.M., Enckevort, D. van, Mei, H., Santcroos, M., Schaik, B.D.C. van, Handsaker, R.E., McCarroll, S.A., Eichler, E.E., Ko, A., Sudmant, P., Francioli, L.C., Kloosterman, W.P., Nijman, I.J., Guryev, V., FREX Consortium, GoNL Consortium
Publikováno v:
Brain, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142, 35-49. OXFORD UNIV PRESS
Kim, A, Savary, C, de Tayrac, M, David, V, FREX Consortium, Boomsma, D, Willemsen, G, Abdellaoui, A, Hottenga, J J & Kattenberg, M 2019, ' Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly ', Brain : a journal of neurology, vol. 142, no. 1, pp. 35-49 . https://doi.org/10.1093/brain/awy290
Brain : a journal of neurology, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology, 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142(1), 35. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142, 35-49. OXFORD UNIV PRESS
Kim, A, Savary, C, de Tayrac, M, David, V, FREX Consortium, Boomsma, D, Willemsen, G, Abdellaoui, A, Hottenga, J J & Kattenberg, M 2019, ' Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly ', Brain : a journal of neurology, vol. 142, no. 1, pp. 35-49 . https://doi.org/10.1093/brain/awy290
Brain : a journal of neurology, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology, 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142(1), 35. Oxford University Press
Kim et al. identify novel genes and disease pathways in the forebrain developmental disorder holoprosencephaly, and show that many cases involve oligogenic inheritance. The findings underline the roles of Sonic Hedgehog and primary cilia in forebrain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c33790c2c548866b2bd58ac9919bb5
https://research.rug.nl/en/publications/9c483394-6d35-4799-b37f-f2b3674e2109
https://research.rug.nl/en/publications/9c483394-6d35-4799-b37f-f2b3674e2109