The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers
Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as...
Ausführliche Beschreibung
Autor*in: |
Catucci, Irene [verfasserIn] Verderio, Paolo [verfasserIn] Pizzamiglio, Sara [verfasserIn] Manoukian, Siranoush [verfasserIn] Peissel, Bernard [verfasserIn] Zaffaroni, Daniela [verfasserIn] Roversi, Gaia [verfasserIn] Ripamonti, Carla B. [verfasserIn] Pasini, Barbara [verfasserIn] Barile, Monica [verfasserIn] Viel, Alessandra [verfasserIn] Giannini, Giuseppe [verfasserIn] Papi, Laura [verfasserIn] Varesco, Liliana [verfasserIn] Martayan, Aline [verfasserIn] Riboni, Mirko [verfasserIn] Volorio, Sara [verfasserIn] Radice, Paolo [verfasserIn] Peterlongo, Paolo [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2010 |
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Schlagwörter: |
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Übergeordnetes Werk: |
Enthalten in: Breast cancer research and treatment - Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981, 125(2010), 3 vom: 22. Juli, Seite 855-860 |
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Übergeordnetes Werk: |
volume:125 ; year:2010 ; number:3 ; day:22 ; month:07 ; pages:855-860 |
Links: |
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DOI / URN: |
10.1007/s10549-010-1068-8 |
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Katalog-ID: |
SPR011076240 |
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245 | 1 | 4 | |a The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers |
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520 | |a Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. | ||
650 | 4 | |a Breast cancer risk |7 (dpeaa)DE-He213 | |
650 | 4 | |a CASP8 |7 (dpeaa)DE-He213 | |
650 | 4 | |a rs3834129 |7 (dpeaa)DE-He213 | |
650 | 4 | |a Polymorphism |7 (dpeaa)DE-He213 | |
650 | 4 | |a BRCA mutation carriers |7 (dpeaa)DE-He213 | |
700 | 1 | |a Verderio, Paolo |e verfasserin |4 aut | |
700 | 1 | |a Pizzamiglio, Sara |e verfasserin |4 aut | |
700 | 1 | |a Manoukian, Siranoush |e verfasserin |4 aut | |
700 | 1 | |a Peissel, Bernard |e verfasserin |4 aut | |
700 | 1 | |a Zaffaroni, Daniela |e verfasserin |4 aut | |
700 | 1 | |a Roversi, Gaia |e verfasserin |4 aut | |
700 | 1 | |a Ripamonti, Carla B. |e verfasserin |4 aut | |
700 | 1 | |a Pasini, Barbara |e verfasserin |4 aut | |
700 | 1 | |a Barile, Monica |e verfasserin |4 aut | |
700 | 1 | |a Viel, Alessandra |e verfasserin |4 aut | |
700 | 1 | |a Giannini, Giuseppe |e verfasserin |4 aut | |
700 | 1 | |a Papi, Laura |e verfasserin |4 aut | |
700 | 1 | |a Varesco, Liliana |e verfasserin |4 aut | |
700 | 1 | |a Martayan, Aline |e verfasserin |4 aut | |
700 | 1 | |a Riboni, Mirko |e verfasserin |4 aut | |
700 | 1 | |a Volorio, Sara |e verfasserin |4 aut | |
700 | 1 | |a Radice, Paolo |e verfasserin |4 aut | |
700 | 1 | |a Peterlongo, Paolo |e verfasserin |4 aut | |
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10.1007/s10549-010-1068-8 doi (DE-627)SPR011076240 (SPR)s10549-010-1068-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Catucci, Irene verfasserin aut The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. Breast cancer risk (dpeaa)DE-He213 CASP8 (dpeaa)DE-He213 rs3834129 (dpeaa)DE-He213 Polymorphism (dpeaa)DE-He213 BRCA mutation carriers (dpeaa)DE-He213 Verderio, Paolo verfasserin aut Pizzamiglio, Sara verfasserin aut Manoukian, Siranoush verfasserin aut Peissel, Bernard verfasserin aut Zaffaroni, Daniela verfasserin aut Roversi, Gaia verfasserin aut Ripamonti, Carla B. verfasserin aut Pasini, Barbara verfasserin aut Barile, Monica verfasserin aut Viel, Alessandra verfasserin aut Giannini, Giuseppe verfasserin aut Papi, Laura verfasserin aut Varesco, Liliana verfasserin aut Martayan, Aline verfasserin aut Riboni, Mirko verfasserin aut Volorio, Sara verfasserin aut Radice, Paolo verfasserin aut Peterlongo, Paolo verfasserin aut Enthalten in Breast cancer research and treatment Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981 125(2010), 3 vom: 22. Juli, Seite 855-860 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:125 year:2010 number:3 day:22 month:07 pages:855-860 https://dx.doi.org/10.1007/s10549-010-1068-8 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 125 2010 3 22 07 855-860 |
spelling |
10.1007/s10549-010-1068-8 doi (DE-627)SPR011076240 (SPR)s10549-010-1068-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Catucci, Irene verfasserin aut The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. Breast cancer risk (dpeaa)DE-He213 CASP8 (dpeaa)DE-He213 rs3834129 (dpeaa)DE-He213 Polymorphism (dpeaa)DE-He213 BRCA mutation carriers (dpeaa)DE-He213 Verderio, Paolo verfasserin aut Pizzamiglio, Sara verfasserin aut Manoukian, Siranoush verfasserin aut Peissel, Bernard verfasserin aut Zaffaroni, Daniela verfasserin aut Roversi, Gaia verfasserin aut Ripamonti, Carla B. verfasserin aut Pasini, Barbara verfasserin aut Barile, Monica verfasserin aut Viel, Alessandra verfasserin aut Giannini, Giuseppe verfasserin aut Papi, Laura verfasserin aut Varesco, Liliana verfasserin aut Martayan, Aline verfasserin aut Riboni, Mirko verfasserin aut Volorio, Sara verfasserin aut Radice, Paolo verfasserin aut Peterlongo, Paolo verfasserin aut Enthalten in Breast cancer research and treatment Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981 125(2010), 3 vom: 22. Juli, Seite 855-860 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:125 year:2010 number:3 day:22 month:07 pages:855-860 https://dx.doi.org/10.1007/s10549-010-1068-8 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 125 2010 3 22 07 855-860 |
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10.1007/s10549-010-1068-8 doi (DE-627)SPR011076240 (SPR)s10549-010-1068-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Catucci, Irene verfasserin aut The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. Breast cancer risk (dpeaa)DE-He213 CASP8 (dpeaa)DE-He213 rs3834129 (dpeaa)DE-He213 Polymorphism (dpeaa)DE-He213 BRCA mutation carriers (dpeaa)DE-He213 Verderio, Paolo verfasserin aut Pizzamiglio, Sara verfasserin aut Manoukian, Siranoush verfasserin aut Peissel, Bernard verfasserin aut Zaffaroni, Daniela verfasserin aut Roversi, Gaia verfasserin aut Ripamonti, Carla B. verfasserin aut Pasini, Barbara verfasserin aut Barile, Monica verfasserin aut Viel, Alessandra verfasserin aut Giannini, Giuseppe verfasserin aut Papi, Laura verfasserin aut Varesco, Liliana verfasserin aut Martayan, Aline verfasserin aut Riboni, Mirko verfasserin aut Volorio, Sara verfasserin aut Radice, Paolo verfasserin aut Peterlongo, Paolo verfasserin aut Enthalten in Breast cancer research and treatment Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981 125(2010), 3 vom: 22. Juli, Seite 855-860 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:125 year:2010 number:3 day:22 month:07 pages:855-860 https://dx.doi.org/10.1007/s10549-010-1068-8 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 125 2010 3 22 07 855-860 |
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10.1007/s10549-010-1068-8 doi (DE-627)SPR011076240 (SPR)s10549-010-1068-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Catucci, Irene verfasserin aut The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. Breast cancer risk (dpeaa)DE-He213 CASP8 (dpeaa)DE-He213 rs3834129 (dpeaa)DE-He213 Polymorphism (dpeaa)DE-He213 BRCA mutation carriers (dpeaa)DE-He213 Verderio, Paolo verfasserin aut Pizzamiglio, Sara verfasserin aut Manoukian, Siranoush verfasserin aut Peissel, Bernard verfasserin aut Zaffaroni, Daniela verfasserin aut Roversi, Gaia verfasserin aut Ripamonti, Carla B. verfasserin aut Pasini, Barbara verfasserin aut Barile, Monica verfasserin aut Viel, Alessandra verfasserin aut Giannini, Giuseppe verfasserin aut Papi, Laura verfasserin aut Varesco, Liliana verfasserin aut Martayan, Aline verfasserin aut Riboni, Mirko verfasserin aut Volorio, Sara verfasserin aut Radice, Paolo verfasserin aut Peterlongo, Paolo verfasserin aut Enthalten in Breast cancer research and treatment Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981 125(2010), 3 vom: 22. Juli, Seite 855-860 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:125 year:2010 number:3 day:22 month:07 pages:855-860 https://dx.doi.org/10.1007/s10549-010-1068-8 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 125 2010 3 22 07 855-860 |
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10.1007/s10549-010-1068-8 doi (DE-627)SPR011076240 (SPR)s10549-010-1068-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.92 bkl Catucci, Irene verfasserin aut The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. Breast cancer risk (dpeaa)DE-He213 CASP8 (dpeaa)DE-He213 rs3834129 (dpeaa)DE-He213 Polymorphism (dpeaa)DE-He213 BRCA mutation carriers (dpeaa)DE-He213 Verderio, Paolo verfasserin aut Pizzamiglio, Sara verfasserin aut Manoukian, Siranoush verfasserin aut Peissel, Bernard verfasserin aut Zaffaroni, Daniela verfasserin aut Roversi, Gaia verfasserin aut Ripamonti, Carla B. verfasserin aut Pasini, Barbara verfasserin aut Barile, Monica verfasserin aut Viel, Alessandra verfasserin aut Giannini, Giuseppe verfasserin aut Papi, Laura verfasserin aut Varesco, Liliana verfasserin aut Martayan, Aline verfasserin aut Riboni, Mirko verfasserin aut Volorio, Sara verfasserin aut Radice, Paolo verfasserin aut Peterlongo, Paolo verfasserin aut Enthalten in Breast cancer research and treatment Dordrecht [u.a.] : Springer Science + Business Media B.V., 1981 125(2010), 3 vom: 22. Juli, Seite 855-860 (DE-627)320433722 (DE-600)2004077-5 1573-7217 nnns volume:125 year:2010 number:3 day:22 month:07 pages:855-860 https://dx.doi.org/10.1007/s10549-010-1068-8 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.92 ASE AR 125 2010 3 22 07 855-860 |
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Enthalten in Breast cancer research and treatment 125(2010), 3 vom: 22. Juli, Seite 855-860 volume:125 year:2010 number:3 day:22 month:07 pages:855-860 |
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Breast cancer risk CASP8 rs3834129 Polymorphism BRCA mutation carriers |
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Catucci, Irene @@aut@@ Verderio, Paolo @@aut@@ Pizzamiglio, Sara @@aut@@ Manoukian, Siranoush @@aut@@ Peissel, Bernard @@aut@@ Zaffaroni, Daniela @@aut@@ Roversi, Gaia @@aut@@ Ripamonti, Carla B. @@aut@@ Pasini, Barbara @@aut@@ Barile, Monica @@aut@@ Viel, Alessandra @@aut@@ Giannini, Giuseppe @@aut@@ Papi, Laura @@aut@@ Varesco, Liliana @@aut@@ Martayan, Aline @@aut@@ Riboni, Mirko @@aut@@ Volorio, Sara @@aut@@ Radice, Paolo @@aut@@ Peterlongo, Paolo @@aut@@ |
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Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. 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|
author |
Catucci, Irene |
spellingShingle |
Catucci, Irene ddc 610 bkl 44.92 misc Breast cancer risk misc CASP8 misc rs3834129 misc Polymorphism misc BRCA mutation carriers The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers |
authorStr |
Catucci, Irene |
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electronic Article |
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610 - Medicine & health |
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Not Illustrated |
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610 ASE 44.92 bkl The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers Breast cancer risk (dpeaa)DE-He213 CASP8 (dpeaa)DE-He213 rs3834129 (dpeaa)DE-He213 Polymorphism (dpeaa)DE-He213 BRCA mutation carriers (dpeaa)DE-He213 |
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The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers |
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The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers |
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Catucci, Irene Verderio, Paolo Pizzamiglio, Sara Manoukian, Siranoush Peissel, Bernard Zaffaroni, Daniela Roversi, Gaia Ripamonti, Carla B. Pasini, Barbara Barile, Monica Viel, Alessandra Giannini, Giuseppe Papi, Laura Varesco, Liliana Martayan, Aline Riboni, Mirko Volorio, Sara Radice, Paolo Peterlongo, Paolo |
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casp8 rs3834129 polymorphism and breast cancer risk in brca1 mutation carriers |
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The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers |
abstract |
Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. |
abstractGer |
Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. |
abstract_unstemmed |
Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834129 was genotyped in a total of 1,207 Italian female BRCA mutation carriers. Of these, 740 carried a BRCA1 mutation and 467 a BRCA2 mutation. Overall, 699 were affected with breast cancer and 508 were unaffected. When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08–1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24–2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66–1.80) for BRCA2 mutation carriers. These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. |
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The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers |
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Verderio, Paolo Pizzamiglio, Sara Manoukian, Siranoush Peissel, Bernard Zaffaroni, Daniela Roversi, Gaia Ripamonti, Carla B. Pasini, Barbara Barile, Monica Viel, Alessandra Giannini, Giuseppe Papi, Laura Varesco, Liliana Martayan, Aline Riboni, Mirko Volorio, Sara Radice, Paolo Peterlongo, Paolo |
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score |
7.3978605 |