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Akademický článek

Self-organized pattern formation on silicon, stainless steel and zinc coated steel substrates

Autor: Stenberg, H., Stenberg, P., Suvanto, M., Pakkanen, T.T.

Publikováno v: In Progress in Organic Coatings January 2014 77(1):131-135

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Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Autor: Dorling, L., Carvalho, S., Allen, J., Gonzalez-Neira, A., Luccarini, C., Wahlstrom, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Keeman, R., Alonso, M.R., Alvarez, N., Herraez, B., Fernandez, V., Nunez-Torres, R., Osorio, A., Valcich, J., Li, M., Torngren, T., Harrington, P.A., Baynes, C., Conroy, D.M., Decker, B., Fachal, L., Mavaddat, N., Ahearn, T., Aittomaki, K., Antonenkova, N.N., Arnold, N., Arveux, P., Ausems, M.G.E.M., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bialkowska, K., Blomqvist, C., Bogdanova, N.V., Bogdanova-Markov, N., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Bremer, M., Briceno, I., Bruning, T., Burwinkel, B., Cameron, D.A., Camp, N.J., Campbell, A., Carracedo, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Christiansen, H., Collee, J.M., Cordina-Duverger, E., Cornelissen, S., Czene, K., Dork, T., Ekici, A.B., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J., Flyger, H., Forsti, A., Gabrielson, M., Gago-Dominguez, M., Georgoulias, V., Gil, F., Giles, G.G., Glendon, G., Garcia, E.B.G., Alnaes, G.I.G., Guenel, P., Hadjisavvas, A., Haeberle, L., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartikainen, J.M., Hartman, M., He, W., Heemskerk-Gerritsen, B.A.M., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Ho, W.K., Hooning, M.J., Howell, A., Humphreys, K., Idris, F., Jakubowska, A., Jung, A., Kapoor, P.M., Kerin, M.J., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kosma, V.M., Kristensen, V.N., Kyriacou, K., Lakeman, I.M.M., Lee, J.W., Lee, M.H., Li, J.M., Lindblom, A., W.Y. lo, Loizidou, M.A., Lophatananon, A., Lubinski, J., MacInnis, R.J., Madsen, M.J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Maurer, T., Mavroudis, D., McLean, C., Meindl, A., Mensenkamp, A.R., Michailidou, K., Miller, N., Taib, N.A.M., Muir, K., Mulligan, A.M., Nevanlinna, H., Newman, W.G., Nordestgaard, B.G., Ng, P.S., Oosterwijk, J.C., Park, S.K., Park-Simon, T.W., Perez, J.I.A., Peterlongo, P., Porteous, D.J., Prajzendanc, K., Prokofyeva, D., Radice, P., Rashid, M.U., Rhenius, V., Rookus, M.A., Rudiger, T., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Schneeweiss, A., Schurmann, P., Shah, M., Sohn, C., Southey, M.C., Surowy, H., Suvanto, M., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tzardi, M., Valova, Y., Asperen, C.J. van, Dam, R.M. van, Ouweland, A.M.W. van den, Kolk, L.E. van der, Veen, E.M. van, Wendt, C., Williams, J.A., Yang, X.H.R., Yoon, S.Y., Zamora, M.P., Evans, D.G., Hoya, M. de la, Simard, J., Antoniou, A.C., Borg, A., Andrulis, I.L., Chang-Claude, J., Garcia-Closas, M., Chenevix-Trench, G., Milne, R.L., Pharoah, P.D.P., Schmidt, M.K., Spurdle, A.B., Vreeswijk, M.P.G., Benitez, J., Dunning, A.M., Kvist, A., Teo, S.H., Devilee, P., Easton, D.F., Breast Canc Assoc Consortium

Publikováno v: New England Journal of Medicine, 384(5), 428-439. MASSACHUSETTS MEDICAL SOC
Dorling, L, Carvalho, S, Allen, J, González-Neira, A, Luccarini, C, Wahlström, C, A. Pooley, K, T. Parsons, M, Fortuno, C, Wang, Q, K. Bolla, M, Dennis, J, Keeman, R, Alonso, M R, Álvarez, N, Herraez, B, Fernandez, V, Núñez-Torres, R, Osario, A, Valchich, J, Li, M, Törngren, T, A. Harrington, P, Baynes, C, M. Conroy, D, Decker, B, Fachal, L, Mavaddat, N, Ahearn, T, Aittomäki, K, N. Antonenkova, N, Arnold, N, Arveux, P, G.E.M Ausems, M, Auvinen, P, Becher, H, W. Beckmann, M, Behrens, S, Bermisheva, M, Białkowska, K, Blomqvist, C, V. Bogdanova, N, Bogdanova-Markov, N, E. Bojesen, S, Bonanni, B, Børresen-Dale, A-L, Brauch, H, Bremer, M, Briceno, I, Brüning, T, Burwinkel, B & Cameron, D A 2021, ' Breast cancer risk genes: association analysis in more than 113,000 women ', New England Journal of Medicine . https://doi.org/10.1056/NEJMoa1913948
N Engl J Med
New England Journal of Medicine, 384(5), 428-439. Massachussetts Medical Society
Breast Cancer Association Consortium 2021, ' Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women ', New England Journal of Medicine, vol. 384, no. 5, pp. 428-439 . https://doi.org/10.1056/NEJMoa1913948
The New England Journal of Medicine, 384, 5, pp. 428-439
New England Journal of Medicine
New England Journal of Medicine, 384(5), 428-439. MASSACHUSETTS MEDICAL SOCIETY
The New England Journal of Medicine, 384, 428-439

BACKGROUNDGenetic testing for breast cancer susceptibility is widely used, but for many genes,evidence of an association with breast cancer is weak, underlying risk estimatesare imprecise, and reliable subtype-specific risk estimates are lacking.METH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853c9edad5e502a334ea18615af80eea
https://doi.org/10.1056/nejmoa1913948

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Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Autor: Dorling, L., Carvalho, S., Allen, J., Parsons, M.T., Fortuno, C., Gonzalez-Neira, A., Heijl, S.M., Adank, M.A., Ahearn, T.U., Andrulis, I.L., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bremer, M., Briceno, I., Camp, N.J., Campbell, A., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Collee, J.M., Czene, K., Dennis, J., Dork, T., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Giles, G.G., Glendon, G., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartman, M., Hogervorst, F.B.L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kristensen, V.N., Lakeman, I.M.M., Li, J.M., Lindblom, A., Loizidou, M.A., Lophatananon, A., Lubinski, J., Luccarini, C., Madsen, M.J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R.L., Taib, N.A.M., Muir, K., Nevanlinna, H., Newman, W.G., Oosterwijk, J.C., Park, S.K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Shah, M.T., Sim, X., Southey, M.C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., Asperen, C.J. van, Waltes, R., Wang, Q., Yang, X.H.R., Pharoah, P.D.P., Schmidt, M.K., Benitez, J., Vroling, B., Dunning, A.M., Teo, S.H., Kvist, A., Hoya, M. de la, Devilee, P., Spurdle, A.B., Vreeswijk, M.P.G., Easton, D.F., NBCS Collaborators, KConFab Investigators, SGBCC Investigators

Publikováno v: Genome Medicine, 14(1). BMC
Genome Medicine, 14(1):51. BioMed Central Ltd.
Dorling, L, Carvalho, S, Allen, J, Parsons, M T, Fortuno, C, González-Neira, A, Heijl, S M, Adank, M A, Ahearn, T U, Andrulis, I L, Auvinen, P, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bremer, M, Briceno, I, Camp, N J, Campbell, A, Castelao, J E, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Collée, J M, Czene, K, Dennis, J, Dörk, T, Eriksson, M, Evans, D G, Fasching, P A, Figueroa, J, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, Gündert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harkness, E F, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hoppe, R, Howell, A, Jakubowska, A, Jung, A, Khusnutdinova, E, Kim, S-W, Ko, Y-D, Kristensen, V N, Lakeman, I M M, Li, J, Lindblom, A, Loizidou, M A, Lophatananon, A, Lubiński, J, Luccarini, C, Madsen, M J, Mannermaa, A, Manoochehri, M, Margolin, S, Mavroudis, D, Milne, R L, Taib, N A M, Muir, K, Nevanlinna, H, Newman, W G, Oosterwijk, J C, Park, S K, Peterlongo, P, Radice, P, Saloustros, E, Sawyer, E J, Schmutzler, R K, Shah, M, Sim, X, Southey, M C, Surowy, H, Suvanto, M, Tomlinson, I, Torres, D, Truong, T, van Asperen, C J, Waltes, R, Wang, Q, Yang, X R, Pharoah, P D P, Schmidt, M K, Benitez, J, Vroling, B, Dunning, A M, Teo, S H, Kvist, A, de la Hoya, M, Devilee, P, Spurdle, A B, Vreeswijk, M P G & Easton, D F 2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, 51 . https://doi.org/10.1186/s13073-022-01052-8
Genome Med. 14:51 (2022)
Genome medicine, 14:51. BMC
2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, no. 1, 51, pp. 51 . https://doi.org/10.1186/s13073-022-01052-8
Genome Medicine
Genome Medicine, 2022, 14 (1), pp.51. ⟨10.1186/s13073-022-01052-8⟩

Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c185147962665a775ec9e902da9f70
http://hdl.handle.net/1887/3563684