Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
| Autor: | Engel, C., Versmold, B., Wappenschmidt, B., Simard, J., Easton, D.F., Peock, S., Cook, M., Oliver, C., Frost, D., Mayes, R., Evans, D.G., Eeles, R., Paterson, J., Brewer, C., McGuffog, L., Antoniou, A.C., Stoppa-Lyonnet, D., Sinilnikova, O.M., Barjhoux, L., Frenay, M., Michel, C., Leroux, D., Dreyfus, H., Toulas, C., Gladieff, L., Uhrhammer, N., Bignon, Y.J., Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Preisler-Adams, S., Kast, K., Deissler, H., Sutter, C., Gadzicki, D., Chenevix-Trench, G., Spurdle, A.B., Chen, X.Q., Beesley, J., Olsson, H., Kristoffersson, U., Ehrencrona, H., Liljegren, A., Luijt, R.B. van der, Os, T.A. van, Leeuwen, F.E. van, Domchek, S.M., Rebbeck, T.R., Nathanson, K.L., Osorio, A., Cajal, T.R.Y., Konstantopoulou, I., Benitez, J., Friedman, E., Kaufman, B., Laitman, Y., Mai, P.L., Greene, M.H., Nevanlinna, H., Aittomaki, K., Szabo, C.I., Caldes, T., Couch, F.J., Andrulis, I.L., Godwin, A.K., Hamann, U., Schmutzler, R.K., Epidemiological Study Familial Bre, Kathleen Cuningham Fdn Consortium, Sweden SWE-BRCA, Hereditary Breast Ovarian Canc Grp, Consortium Investigators Modifiers |
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| Přispěvatelé: | MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - School for Oncology and Reproduction, Human Genetics, Epidemiology and Data Science, CCA - Disease profiling, EMGO - Quality of care |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Oncology
medicine.medical_specialty Genetics and epigenetic pathways of disease [NCMLS 6] Genotype endocrine system diseases Epidemiology Genes BRCA2 Population Genes BRCA1 Breast Neoplasms Single-nucleotide polymorphism Biology Polymerase Chain Reaction Polymorphism Single Nucleotide Article Molecular epidemiology [NCEBP 1] 03 medical and health sciences 0302 clinical medicine Breast cancer caspase-8 gene inactivating mutations common variants reduced risk cell-cycle apoptosis susceptibility polymorphisms predisposition carcinomas Risk Factors Internal medicine medicine Humans Genetic Predisposition to Disease Caspase 10 education skin and connective tissue diseases 030304 developmental biology Ovarian Neoplasms Caspase 8 0303 health sciences education.field_of_study Hereditary cancer and cancer-related syndromes [ONCOL 1] Cancer medicine.disease 3. Good health Minor allele frequency 030220 oncology & carcinogenesis Cancer and Oncology Mutation Cancer research Female Breast disease Ovarian cancer |
| Zdroj: | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology; 19, pp 2859-2868 (2010) Cancer Epidemiology, Biomarkers & Prevention, 19, 2859-68 Cancer Epidemiology Biomarkers & Prevention, 19(11), 2859-2868. 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, 19(11), 2859-2868. American Association for Cancer Research Inc. Cancer Epidemiology, Biomarkers and Prevention, 19(11), 2859-2868 Cancer Epidemiology Biomarkers and Prevention, 19(11), 2859-2868. American Association for Cancer Research Inc. Engel, C, Versmold, B, Wappenschmidt, B, Simard, J, Easton, D F, Peock, S, Cook, M, Oliver, C, Frost, D, Mayes, R, Evans, D G, Eeles, R, Paterson, J, Brewer, C, McGuffog, L, Antoniou, A C, Stoppa-Lyonnet, D, Sinilnikova, O M, Barjhoux, L, Frenay, M, Michel, C, Leroux, D, Dreyfus, H, Toulas, C, Gladieff, L, Uhrhammer, N, Bignon, Y J, Meindl, A, Arnold, N, Varon-Mateeva, R, Niederacher, D, Preisler-Adams, S, Kast, K, Deissler, H, Sutter, C, Gadzicki, D, Chenevix-Trench, G, Spurdle, A B, Chen, X Q, Beesley, J, Olsson, H, Kristoffersson, U, Ehrencrona, H, Liljegren, A, van der Luijt, R B, Os, T A, van Leeuwen, F E, Domchek, S M, Rebbeck, T R, Nathanson, K L, Osorio, A, Cajal, T R Y, Konstantopoulou, I, Benitez, J, Friedman, E, Kaufman, B, Laitman, Y, Mai, P L, Greene, M H, Nevanlinna, H, Aittomaki, K, Szabo, C I, Caldes, T, Couch, F J, Andrulis, I L, Godwin, A K, Hamann, U & Schmutzler, R K 2010, ' Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers ', Cancer Epidemiology Biomarkers and Prevention, vol. 19, no. 11, pp. 2859-2868 . https://doi.org/10.1158/1055-9965.EPI-10-0517 Cancer Epidemiology, Biomarkers & Prevention, 19, 11, pp. 2859-68 |
| ISSN: | 1538-7755 1055-9965 |
| Popis: | Background: The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of apoptosis. Suppression of apoptosis is one of the major mechanisms underlying the origin and progression of cancer. Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population. Methods: To evaluate whether the CASP8 D302H (CASP10 V410I) polymorphisms modify breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects of white European origin provided by 19 (18) study groups that participate in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A weighted cohort approach was used to estimate hazard ratios (HR) and 95% confidence intervals (95% CI). Results: The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; Ptrend = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; Ptrend = 0.004) for BRCA1 but not for BRCA2 mutation carriers. The CASP10 V410I polymorphism was not associated with breast or ovarian cancer risk for BRCA1 or BRCA2 mutation carriers. Conclusions: CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriers but not for BRCA2 mutation carriers. Impact: The combined application of these and other recently identified genetic risk modifiers could in the future allow better individual risk calculation and could aid in the individualized counseling and decision making with respect to preventive options in BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev; 19(11); 2859–68. ©2010 AACR. |
| Databáze: | OpenAIRE |
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