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  • 1
    Keywords: CANCER ; COHORT ; POPULATION ; RISK ; GENE ; GENES ; ASSOCIATION ; POLYMORPHISMS ; BREAST ; breast cancer ; BREAST-CANCER ; BRCA1 ; OVARIAN-CANCER ; EXCISION-REPAIR ; ONCOLOGY ; BRCA2 ; breast cancer risk ; NUCLEOTIDE ; ERCC4
    Abstract: BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
    Type of Publication: Journal article published
    PubMed ID: 19920816
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  • 2
    Keywords: RECEPTOR ; CANCER ; EXPRESSION ; Germany ; THERAPY ; POPULATION ; RISK ; SITES ; GENE ; GENES ; HYBRIDIZATION ; PROTEIN ; MESSENGER-RNA ; CARCINOGENESIS ; BINDING ; DOWN-REGULATION ; TYROSINE KINASE INHIBITOR ; ASSOCIATION ; polymorphism ; BREAST ; breast cancer ; BREAST-CANCER ; WOMEN ; TUMOR PROGRESSION ; SNP ; TARGETS ; REPRESSION ; RETINOIC ACID ; VARIANT ; THERAPIES ; SINGLE NUCLEOTIDE POLYMORPHISMS ; BINDING-SITES ; CONFER SUSCEPTIBILITY ; therapeutic ; COMMON VARIANTS ; CHROMOSOME 6Q ; II RECEPTOR
    Abstract: MicroRNAs (miRNAs) negatively regulate expression of target transcripts by hybridization to complementary sites of their messenger RNA targets. Chen et al. have described several putative functional single nucleotide polymorphisms (SNPs) in miRNA target sites. Here, we selected 11 miRNA target site SNPs located in 3' untranslated regions of genes involved in cancer and breast cancer to analyze their impact on breast cancer risk using a large familial study population. Whereas no association was observed for 10 SNPs, a significant association was revealed for the variant affecting a miRNA target site in the estrogen receptor (ESR) 1. Age stratification showed that the association was stronger in premenopausal women [C versus T: odds ratio (OR) = 0.60, confidence interval (CI) = 0.41-0.89, P = 0.010]. Furthermore, the effect was stronger in high-risk familial cases (C versus T: OR = 0.42, CI = 0.25-0.71, P = 0.0009). Clinical studies have shown that elimination of ESR1 significantly reduces breast cancer risk. Thus, therapies that inhibit ESR1 are used for breast cancer treatment. According to in silico analysis, ESR1_rs2747648 affects the binding capacity of miR-453, which is stronger when the C allele is present. In contrast, the T allele attenuates the binding of miR-453, which might lead to a reduced miRNA-mediated ESR1 repression, in consequence higher ESR1 protein levels and an increased breast cancer risk. Thus, the breast cancer protective effect observed for the C allele in premenopausal women is biologically reasonable. The analysis of large study populations in multicentre collaboration will be needed to verify the association and answer questions regarding the possible impact of this variant on therapeutic and clinical outcome
    Type of Publication: Journal article published
    PubMed ID: 19028706
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  • 3
    Keywords: CANCER ; Germany ; DISEASE ; POPULATION ; RISK ; MESSENGER-RNA ; IMPACT ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; BRCA1 ; OVARIAN-CANCER ; MUTATION ; SNP ; cancer risk ; MUTATIONS ; US ; case-control studies ; BRCA1/2 ; case control study ; case-control study ; GENETIC EPIDEMIOLOGY ; BRCA2 ; VARIANT ; SNPs ; MUTATION CARRIERS ; USA ; CANCER-RISK ; NOV ; breast cancer risk ; BRCA1 and BRCA2 ; Codon-usage ; SILENT ; SYNONYMOUS SNP
    Abstract: Mutations in BRCA1 and BRCA2 are associated with increased breast cancer risk. While numerous non-synonymous SNPs in BRCA1/2 have been investigated for breast cancer risk, the impact of synonymous SNPs has not been studied so far. Recently, it has been reported that synonymous SNPs leading to an aberration from the preferred codon-usage can have functional effects and consequently be associated with disease. This motivated us to search for SNPs with the tendency to differential codon-usage in BRCA1/BRCA2. Based on defined criteria, two codon-usage-changing variants, Ser455Ser (1365A 〉 G) and Ser2414Ser (7242A 〉 G), were detected in BRCA2, whereas no such variant could be identified in BRCA1. We investigated the impact of these variants on breast cancer risk in a large case-control study. However, both SNPs, BRCA2 Ser2414Ser (7242A 〉 G) and Ser455Ser (1365A 〉 G), showed no association with breast cancer risk. This indicates that these codon-usage-changing SNPs have no major impact on familial breast cancer risk
    Type of Publication: Journal article published
    PubMed ID: 19229607
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  • 4
    Keywords: CANCER ; EXPRESSION ; MODEL ; COMMON ; POPULATION ; RISK ; RISKS ; GENE ; PROTEIN ; BIOLOGY ; MOLECULAR-BIOLOGY ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; SUSCEPTIBILITY ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; BRCA1 ; OVARIAN-CANCER ; MUTATION ; genetics ; SNP ; cancer risk ; CARRIERS ; case-control studies ; ESTROGEN-RECEPTOR ; SINGLE ; molecular biology ; case control study ; case-control study ; population-based case-control study ; BRCA2 ; VARIANT ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; MUTATION CARRIERS ; ALLELES ; INCREASED RISK ; population-based ; CANCER-RISK ; COMMON VARIANT ; 8Q24 ; NOV ; GENOME-WIDE ASSOCIATION ; GENERAL-POPULATION ; breast cancer risk ; UK ; Genetic ; 33 ; COMMON VARIANTS ; Genome-wide association studies ; BRCA1 and BRCA2
    Abstract: Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not
    Type of Publication: Journal article published
    PubMed ID: 19656774
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