A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
| العنوان: | A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers |
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| المؤلفون: | 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 |
| المساهمون: | Human genetics, CCA - Oncogenesis, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human Genetics, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Medical Oncology, Clinical Genetics, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON) |
| المصدر: | 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-12-0229Test 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-12-0229Test 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-12-0229Test |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Nonsynonymous substitution, endocrine system diseases, Epidemiology, Genes, BRCA2, Genes, BRCA1, Cohort Studies, 0302 clinical medicine, Genotype, skin and connective tissue diseases, Ovarian Neoplasms, 0303 health sciences, GENETIC-VARIATION, INSULIN, 3. Good health, FAMILY, Oncology, 030220 oncology & carcinogenesis, Cohort, Female, Cohort study, EXPRESSION, AMINO-ACID POLYMORPHISM, endocrine system, PROTEINS, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], NEOPLASIA, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], GROWTH-FACTOR-I, medicine, Humans, Genetic Predisposition to Disease, IGF, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], RECEPTOR, Retrospective cohort study, medicine.disease, IRS1, Mutation, Cancer research, Insulin Receptor Substrate Proteins, Ovarian cancer |
| الوصف: | 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 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods:IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers. Results: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06–1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39–3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28–2.70; class I HR, 0.86; 95%CI, 0.69–1.09; Pdifference, 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03). Conclusion: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. Impact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 21(8); 1362–70. ©2012 AACR. |
| وصف الملف: | application/pdf |
| تدمد: | 1055-9965 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed487c2555708ec693914ff7cb31de89Test https://hdl.handle.net/1871/42338Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ed487c2555708ec693914ff7cb31de89 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10559965 |
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