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

First international workshop of the ATM and Cancer Risk Group (4–5 December 2019)

Autor: Lesueur, F., Easton, D. F., Renault, A. -L., Tavtigian, S. V., Bernstein, J. L., Kote-Jarai, Z., Eeles, R. A., Plaseska-Karanfia, D., Feliubadalo, L., Moles-Fernandez, A., Santamarina-Pena, M., Sanchez, A. T., Lopez-Novo, A., Porras, L. -M., Blanco, A., Capella, G., de la Hoya, M., Molina, I. J., Osorio, A., Pineda, M., Rueda, D., de la Cruz, X., Diez, O., Ruiz-Ponte, C., Gutierrez-Enriquez, S., Vega, A., Lazaro, C., Arun, B., Herold, N., Versmold, B., Schmutzler, R. K., Nguyen-Dumont, T., Southey, M. C., Dorling, L., Dunning, A. M., Ghiorzo, P., Dalmasso, B. S., Cavaciuti, E., Le Gal, D., Roberts, N. J., Dominguez-Valentin, M., Rookus, M., Taylor, A. M. R., Goldstein, A. M., Goldgar, D. E., Couch, F., Kraft, P., Weitzel, J., Nathanson, K., Domchek, S., Laduca, H., Stoppa-Lyonnet, D., Andrieu, N.

Publikováno v: Fam Cancer

The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f15fec2bfdc6211ab4a9d904d906f28
https://europepmc.org/articles/PMC9969796/

Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort

Autor: Li, J, Wen, W, Eklund, M, Kvist, A, Eriksson, M, Christensen, H, Torstensson, A, Bajalica-Lagercrantz, S, Dunning, A, Decker, B, Allen, J, Luccarini, C, Pooley, K, Simard, J, Dorling, L, Easton, D, Teo, S, Hall, P, Borg, Å, Grönberg, H, Czene, K

Publikováno v: International Journal of Cancer

Breast cancer patients with BRCA1/2‐driven tumors may benefit from targeted therapy. It is not clear whether current BRCA screening guidelines are effective at identifying these patients. The purpose of our study was to evaluate the prevalence of i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f3d2fcdfe6b6ade5267f83bd2c431b34
https://doi.org/10.1002/ijc.31841

The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study

Autor: Dorling, L, Kar, Siddhartha, Michailidou, Kyriaki, Hiller, Louise, Vallier, Anne-Laure, Ingle, Susan, Hardy, Richard, Bowden, Sarah J., Dunn, Janet A., Twelves, Chris, Poole, Christopher J., Caldas, Carlos, Earl, Helena M., Pharoah, Paul D. P., Abraham, Jean E.

Publikováno v: PLoS ONE
PLoS ONE, Vol 11, Iss 7, p e0158984 (2016)

Ninety-four common genetic variants are confirmed to be associated with breast cancer. This study tested the hypothesis that breast cancer susceptibility variants may also be associated with chemotherapy-induced toxicity through shared mechanistic pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0022a205fa4cc8337c0bdbfb34aee532
https://pubmed.ncbi.nlm.nih.gov/27392074

Patients with a high polygenic risk of breast cancer do not have an increased risk of radiotherapy toxicity

Autor: Dorling L, Barnett GC, Michailidou K, Coles CE, Burnet NG, Yarnold JR, Elliott RM, Dunning AM, Pharoah PD, West CM.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2295::4867a6669e83e2314dc00b258f044c3f
http://www.manchester.ac.uk/escholar/uk-ac-man-scw:278821