Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic

Autor: Winter, C., Nilsson, M.P., Olsson, E., George, A.M., Chen, Y., Kvist, A., Törngren, T., Vallon-Christersson, J., Hegardt, C., Häkkinen, J., Jönsson, G., Grabau, D., Malmberg, M., Kristoffersson, U., Rehn, M., Gruvberger-Saal, S.K., Larsson, C., Borg, Å., Loman, N., Saal, L.H. ^*

Publikováno v: In Annals of Oncology August 2016 27(8):1532-1538

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A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

Autor: Ding, Y.C., McGuffog, L., Healey, S., Friedman, E., Laitman, Y., Shani-Paluch-Shimon, Kaufman, B., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S.M., Nathanson, K.L., Rebbeck, T.R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Gronwald, J., Huzarski, T., Cybulski, C., Byrski, T., Osorio, A., Cajal, T.R., Stavropoulou, A.V., Benitez, J., Hamann, U., Rookus, M., Aalfs, C.M., Lange, J.L. de, Meijers-Heijboer, H.E.J., Oosterwijk, J.C., Asperen, C.J. van, Garcia, E.B.G., Hoogerbrugge, N., Jager, A., Luijt, R.B. van der, Easton, D.F., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Tischkowitz, M., Godwin, A.K., Pathak, H., Stoppa-Lyonnet, D., Sinilnikova, O.M., Mazoyer, S., Barjhoux, L., Leone, M., Gauthier-Villars, M., Caux-Moncoutier, V., Pauw, A. de, Hardouin, A., Berthet, P., Dreyfus, H., Ferrer, S.F., Collonge-Rame, M.A., Sokolowska, J., Buys, S., Daly, M., Miron, A., Terry, M.B., Chung, W., John, E.M., Southey, M., Goldgar, D., Singer, C.F., Tea, M.K.M., Gschwantler-Kaulich, D., Fink-Retter, A., Hansen, T.V.O., Ejlertsen, B., Johannsson, O.T., Offit, K., Sarrel, K., Gaudet, M.M., Vijai, J., Robson, M., Piedmonte, M.R., Andrews, L., Cohn, D., DeMars, L.R., DiSilvestro, P., Rodriguez, G., Toland, A.E., Montagna, M., Agata, S., Imyanitov, E., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Ramus, S.J., Sucheston, L., Karlan, B.Y., Gross, J., Ganz, P.A., Beattie, M.S., Schmutzler, R.K., Wappenschmidt, B., Meindl, A., Arnold, N., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Nevanlinna, H., Aittomaki, K., Simard, J., Spurdle, A.B., Beesley, J., Chen, X.Q., Tomlinson, G.E., Weitzel, J., Garber, J.E., Olopade, O.I., Rubinstein, W.S., Tung, N., Blum, J.L., Narod, S.A., Brummel, S., Gillen, D.L., Lindor, N., Fredericksen, Z., Pankratz, V.S., Couch, F.J., Radice, P., Peterlongo, P., Greene, M.H., Loud, J.T., Mai, P.L., Andrulis, I.L., Glendon, G., Ozcelik, H., Gerdes, A.M., Thomassen, M., Jensen, U.B., Skytte, A.B., Caligo, M.A., Lee, A., Chenevix-Trench, G., Antoniou, A.C., Neuhausen, S.L., SWE-BRCA, HEBON, EMBRACE, GEMO Study Collaborators, KConFab Investigators, OCGN, Consortium Investigators Modifiers

Publikováno v: Cancer Epidemiology, Biomarkers & Prevention, 21, 1362-1370
Cancer Epidemiology, Biomarkers and Prevention, 21(8), 1362-1370
Cancer Epidemiology Biomarkers and Prevention, 21(8), 1362-1370. American Association for Cancer Research Inc.
Ding, Y C, McGuffog, L, Healey, S, Friedman, E, Laitman, Y, Paluch-Shimon, S, Kaufman, B, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Gronwald, J, Huzarski, T, Cybulski, C, Byrski, T, Osorio, A, Cajal, T R, Stavropoulou, A V, Benítez, J, Hamann, U, Rookus, M, Aalfs, C M, de Lange, J L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Asperen, C J, Gómez García, E B, Hoogerbrugge, N, Jager, A, van der Luijt, R B, Easton, D F, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Izatt, L, Hansen, T V O, Jensen, U B, Skytte, A-B S & SWE-BRCA 2012, ' A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers ', Cancer Epidemiology, Biomarkers & Prevention, vol. 21, no. 8, pp. 1362-70 . https://doi.org/10.1158/1055-9965.EPI-12-0229
Ding, Y C, McGuffog, L, Healey, S, Friedman, E, Laitman, Y, Shani, P S, Kaufman, B, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Gronwald, J, Huzarski, T, Cybulski, C, Byrski, T, Osorio, A, Cajal, T R, Stavropoulou, A V, Benitez, J, Hamann, U, Rookus, M, Aalfs, C M, de Lange, J L, Meijers-Heijboer, E J, Oosterwijk, J C, van Asperen, C J, Garcia, E B G, Hoogerbrugge, N, Jager, A, van der Luijt, R B, Easton, D F, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Izatt, L, Eeles, R, Adlard, J, Davidson, R, Eccles, D, Cole, T, Cook, J, Brewer, C, Tischkowitz, M, Godwin, A K, Pathak, H, Stoppa-Lyonnet, D, Sinilnikova, O M, Mazoyer, S, Barjhoux, L, Leone, M, Gauthier-Villars, M, Caux-Moncoutier, V, de Pauw, A, Hardouin, A, Berthet, P, Dreyfus, H, Ferrer, S F, Collonge-Rame, M A, Sokolowska, J, Buys, S, Daly, M, Miron, A, Terry, M B, Chung, W, John, E M, Southey, M, Goldgar, D, Singer, C F, Tea, M K M, Gschwantler-Kaulich, D, Fink-Retter, A, Hansen, T V O, Ejlertsen, B, Johannsson, O T, Offit, K, Sarrel, K, Gaudet, M M, Vijai, J, Robson, M, Piedmonte, M R, Andrews, L, Cohn, D, Demars, L R, DiSilvestro, P, Rodriguez, G & Toland, A E 2012, ' A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers ', Cancer Epidemiology Biomarkers and Prevention, vol. 21, no. 8, pp. 1362-1370 . https://doi.org/10.1158/1055-9965.EPI-12-0229
Cancer Epidemiology, Biomarkers & Prevention, 21, 8, pp. 1362-1370
Cancer Epidemiology Biomarkers & Prevention, 21(8), 1362-1370. American Association for Cancer Research Inc.
Cancer epidemiology, biomarkers & prevention, 21(8), 1362-1370. American Association for Cancer Research Inc.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 21(8), 1362-1370. AMER ASSOC CANCER RESEARCH
Ding, Y C, McGuffog, L, Healey, S, Friedman, E, Laitman, Y, Paluch-Shimon, S, Kaufman, B, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Gronwald, J, Huzarski, T, Cybulski, C, Byrski, T, Osorio, A, Cajal, T R, Stavropoulou, A V, Benítez, J, Hamann, U, Rookus, M, Aalfs, C M, de Lange, J L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Asperen, C J, Gómez García, E B, Hoogerbrugge, N, Jager, A, van der Luijt, R B, Easton, D F, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Gerdes, A-M, Thomassen, M, Skytte, A-B & SWE-BRCA 2012, ' A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers ', Cancer Epidemiology, Biomarkers & Prevention, vol. 21, no. 8, pp. 1362-70 . https://doi.org/10.1158/1055-9965.EPI-12-0229

Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed487c2555708ec693914ff7cb31de89
https://hdl.handle.net/1871/42338

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Autor: Severin, F., Borry, P., Cornel, M.C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H.C., John, J., Kääriäinen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, P., Pfeufer, A., Schmidtke, J., Skirton, H., Tranebjærg, L., Rogowski, W.H.

Publikováno v: European Journal of Human Genetics : Ejhg, vol. 23, no. 6, pp. 729-735

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1900::f7eb127406ad0d28e8aa65c4ea1d24f4
https://serval.unil.ch/notice/serval:BIB_CDE05C077A15

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