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  • BREAST-CANCER  (20)
  • EXPRESSION  (10)
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  • 1
    Keywords: CANCER ; EXPRESSION ; Germany ; PATHWAY ; RISK ; GENE ; transcription ; PATIENT ; FAMILY ; TRANSCRIPTION FACTOR ; MARKER ; ASSOCIATION ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; SNP ; cancer risk ; COLORECTAL CANCERS ; case-control studies ; INDIVIDUALS ; beta-catenin ; C-MYC ; TYPE-2 ; WNT ; CYCLIN D1 ; signaling ; case-control study ; RE ; FAMILIES ; VARIANT ; case control studies ; ROLES ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; GENETIC ALTERATION ; Wnt signaling ; type 2 diabetes
    Abstract: Background: The transcription factor 7-like 2 (TCF7L2) is a critical component of the Wnt/beta-catenin pathway. Aberrant TCF7L2 expression modifies Wnt signaling and mediates oncogenic effects through the upregulation of c-MYC and cyclin D. Genetic alterations in TCF7L2 may therefore affect cancer risk. Recently, TCF7L2 variants, including the microsatellite marker DG10S478 and the nearly perfectly linked SNP rs12233372, were identified to associate with type 2 diabetes. Methods: We investigated the effect of the TCF7L2 rs12255372 variant on familial breast cancer ( BC) risk by means of TaqMan allelic discrimination, analyzing BRCA1/2 mutation-negative index patients of 592 German BC families and 735 control individuals. Results: The T allele of rs12255372 showed an association with borderline significance ( OR = 1.19, 95% C. I. = 1.01-1.42, P = 0.04), and the Cochran-Armitage test for trend revealed an allele dose-dependent association of rs12255372 with BC risk ( P-trend = 0.04). Conclusion: Our results suggest a possible influence of TCF7L2 rs12255372 on the risk of familial BC
    Type of Publication: Journal article published
    PubMed ID: 17109766
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  • 2
    Keywords: CANCER ; Germany ; POPULATION ; RISK ; GENES ; PROTEIN ; PROTEINS ; TRANSDUCTION ; PATIENT ; ACTIVATION ; MECHANISM ; IMPACT ; CARCINOGENESIS ; signal transduction ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; MUTATION ; SIGNAL-TRANSDUCTION ; cancer risk ; ONCOLOGY ; RE ; BRCA2 ; INCREASE ; analysis ; TESTS ; USA ; BINDING DOMAIN ; CANCER-RISK ; EPITHELIAL OVARIAN-CANCER ; KINASE-ANCHORING PROTEINS
    Abstract: Data from several studies have suggested that polymorphisms in A-kinase anchoring proteins (AKAPs), which are key components of signal transduction, contribute to carcinogenesis. To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous sing le-nucleotide polymorphisms that were predicted to be deleterious and found two (M4631, 1389G〉T and N2792S, 8375A〉G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. We extended the analysis of AKAP9 M4631, which is in strong linkage disequilibrium with AKAP9 N2792S, to 9523 breast cancer patients and 13770 healthy control subjects from seven independent European and Australian breast cancer studies. All statistical tests were two-sided. The collaborative analysis confirmed the association of M4631 with increased breast cancer risk. Among all breast cancer patients, the combined adjusted odds ratio (OR) of breast cancer for individuals homozygous for the rare allele TT (frequency = 0.19) compared with GG homozygotes was 1.17 (95% confidence interval [CL] = 1.08 to 1.27, P =.0003), and the OR for TT homozygotes plus GT heterozygotes compared with GG homozygotes was 1.10 (95% Cl = 1.04 to 1.17, P=.001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% Cl = 1.12 to 1.45, P =.0003) and 1.16 (95% Cl = 1.06 to 1.27, P =.001)
    Type of Publication: Journal article published
    PubMed ID: 18334708
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  • 3
    Keywords: APOPTOSIS ; CANCER ; Germany ; NEW-YORK ; POPULATION ; RISK ; GENE ; ASSOCIATION ; polymorphism ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; DELETION ; NO ; PROMOTER ; REDUCED RISK ; cancer risk ; REGION ; case-control studies ; ONCOLOGY ; case-control study ; RE ; VARIANT ; PROMOTER POLYMORPHISM ; USA ; caspases ; PROMOTER REGION ; CANCER-RISK ; COMMON VARIANT ; breast cancer risk ; Sp1 binding site ; CASP8-652 6N del
    Abstract: A recent study on an Asian population reported a six-nucleotide insertion-deletion polymorphism (-652 6N del) in the CASP8 promoter region to be strongly associated with a decreased risk of multiple types of cancer, including breast cancer (BC). Here, we investigate the effect of this deletion in four independent large European BC case-control studies, including data from a total of 7,753 cases and 7,921 controls. The combined per allele odds ratio (OR) was 0.97 (95% confidence interval (CI), 95% CI = 0.93-1.02). The present result indicates that the CASP8 -652 6N del variant has no significant effect on BC risk in Europeans
    Type of Publication: Journal article published
    PubMed ID: 17891485
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  • 4
    Keywords: RECEPTOR ; CANCER ; EXPRESSION ; AGENTS ; Germany ; THERAPY ; RISK ; GENE ; GENE-EXPRESSION ; GENES ; transcription ; TIME ; PATIENT ; TRANSCRIPTION FACTOR ; IMPACT ; RISK-FACTORS ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; VARIANTS ; ALPHA ; BREAST ; breast cancer ; BREAST-CANCER ; ACID ; hormone ; gene expression ; risk factors ; cancer risk ; HIGH-RISK ; DNA-DAMAGE ; EXCHANGE ; CANCER-PATIENTS ; DIABETES-MELLITUS ; CANCER PATIENTS ; ESTROGEN-RECEPTOR ; TAMOXIFEN ; signaling ; CBP ; REGRESSION ; ASSOCIATIONS ; RE ; VARIANT ; ESTROGEN ; CANCER DEVELOPMENT ; NUCLEAR RECEPTORS ; estrogen receptor ; p300 ; RISK-FACTOR ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; OVARIAN ; MUTATION ANALYSIS ; genotype combination ; GAMMA COACTIVATOR ; PREINVASIVE MAMMARY-TUMORS ; STEROID-HORMONE RECEPTORS
    Abstract: The mitogen effect of the ovarian steroid estrogen is a strong risk factor for breast cancer development. This effect is mainly mediated by the estrogen receptor alpha, a hormone inducible transcription factor, which activates gene expression through recruiting multiple coactivators, such as PPARGC1A, PPARGC1B and EP300. We tested the hypothesis that non-conservative, putative functional amino acid exchanges in PPARGC1A, PPARGC1B and EP300 act as low-penetrance familial breast cancer risk factors. The analysis of 816 BRCA1/2 mutation-negative familial breast cancer patients and 1012 controls revealed an association of the PPARGC1A Thr612Met polymorphism with familial breast cancer (OR = 1.35, 95% CI 1.00-1.81, P = 0.049), high-risk familial breast cancer (OR = 1.51, 95% CI 1.08-2.12, P = 0.017) and bilateral familial breast cancer (OR = 2.30, 95% CI 1.24-4.28, P = 0.009). Logistic regression analyses of the PPARGC1B Ala203Pro variant showed an increased familial breast cancer risk of heterozygous and homozygous variant allele carriers (OR = 1.48, 95% CI 1.15-1.91, P = 0.002). The genotype-combination analysis of the associated PPARGC1A Thr612Met variant and the associated PPARGC1B Ala203Pro variant suggests an allele dose-dependent breast cancer risk (P-trend = 0.0004). Our results indicate for the first time the importance of inherited variants in the estrogen receptor coactivator genes PPARGC1A and PPARGC1B for familial breast cancer susceptibility. Owing to their impact on estrogen signaling, these polymorphisms might also influence adjuvant anti-estrogen therapy, using agents such as tamoxifen and raloxifen, and outcome of breast cancer patients
    Type of Publication: Journal article published
    PubMed ID: 16704985
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  • 5
    Keywords: RECEPTOR ; CANCER ; EXPRESSION ; tumor ; carcinoma ; Germany ; human ; RISK ; GENE ; GENES ; TUMORS ; PATIENT ; TISSUES ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; BREAST ; breast cancer ; BREAST-CANCER ; PROGRESSION ; DESIGN ; PROMOTER ; NUMBER ; AGE ; SNP ; PATHOGENESIS ; REGION ; REGIONS ; case-control studies ; case-control study ; RE ; VARIANT ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; case control studies ; INTERVAL ; single-nucleotide ; GATA-3 ; GROWTH-HORMONE ; SYSTEMIC-LUPUS-ERYTHEMATOSUS/
    Abstract: Context: The contribution of prolactin (PRL) through its receptor (PRLR) to the pathogenesis and progression of human mammary tumors has received recent attention. Objective: We investigated whether genetic variation in the PRL and PRLR genes is associated with the risk of breast cancer ( BC). Design: We conducted a case-control study with a total of seven single nucleotide polymorphisms (SNPs). Setting: The study was conducted at an academic research laboratory and university clinics. Patients and Other Participants: A total of 441 German familial, unrelated BC cases and 552 controls matched by age, ethnicity, and geographical region participated in the study. Intervention(s): There were no interventions. Main Outcome Measures(s): SNP genotype and haplotype distributions and haplotype interactions were correlated with the risk of BC. Results: Two SNPs (rs1341239 and rs12210179) within the PRL promoter regions were significantly associated with increased risk in homozygotes for the variant alleles [ odds ratio ( OR), 1.67 and 95% confidence interval (CI), 1.11 - 2.50; and OR, 2.09 and 95% CI, 1.23 - 3.52, respectively]. The PRL haplotype containing the variant alleles of the promoter SNPs increased significantly the risk of BC ( OR 1.42, 95% CI 1.07 - 1.90). A PRLR haplotype was associated with a significant decrease in BC risk ( OR 0.69, 95% CI 0.54 - 0.89). An increasing number of PRL and PRLR risk haplotypes led to a significant trend of increasing risk for BC (chi(2) = 12.15; P = 0.007). Conclusions: Genetic variation in the PRL and PRLR genes was shown to influence BC risk. Additional studies are needed to further clarify the role of the PRL and PRLR genes in the risk of BC
    Type of Publication: Journal article published
    PubMed ID: 16434456
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  • 6
    Keywords: CANCER ; Germany ; RISK ; GENES ; PROTEIN ; PATIENT ; FAMILY ; INDEX ; FREQUENCY ; SUSCEPTIBILITY ; VARIANTS ; FREQUENCIES ; BREAST ; breast cancer ; BREAST-CANCER ; NO ; DIFFERENCE ; BRCA1 ; MUTATION ; REPAIR ; cancer risk ; MUTATIONS ; case-control studies ; INDIVIDUALS ; ONCOLOGY ; case control study ; case-control study ; RE ; FAMILIES ; VARIANT ; case control studies ; methods ; NUCLEAR ; GENOTYPE ; function ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; FANCONI-ANEMIA ; ENGLAND ; case control ; - ; BRIP1/BACH1
    Abstract: Background: Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer ( BC). Methods: We investigated the effect of BRIP1 - 64G 〉 A and Pro919Ser on familial BC risk by means of TaqMan allelic discrimination, analysing BRCA1/BRCA2 mutation-negative index patients of 571 German BC families and 712 control individuals. Results: No significant differences in genotype frequencies between BC cases and controls for BRIP1 - 64G 〉 A and Pro919Ser were observed. Conclusion: We found no effect of the putatively functional BRIP1 variants - 64G 〉 A and Pro919Ser on the risk of familial BC
    Type of Publication: Journal article published
    PubMed ID: 17504528
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  • 7
    Keywords: CANCER ; carcinoma ; Germany ; KINASE ; THERAPY ; RISK ; GENE ; GENES ; IMPACT ; CARCINOGENESIS ; ASSOCIATION ; polymorphism ; SUSCEPTIBILITY ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; OVARIAN-CANCER ; BLADDER-CANCER ; cancer risk ; COLORECTAL CANCERS ; OVEREXPRESSION ; ONCOLOGY ; case-control study ; RE ; VARIANT ; GENOTYPE ; LOSSES ; CANCERS ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; AURORA KINASES ; CHROMOSOME SEGREGATION ; HARDY-WEINBERG DISEQUILIBRIUM ; MITOTIC KINASE
    Abstract: Aurora genes play a crucial role in tumourigenesis and are overexpressed in many kinds of cancers. We investigated whether coding variants within the Aurora genes are associated with familial breast cancer risk. While AURKA Phe31Ile (1712T 〉 A) and AURKB Thr298Met (893G 〉 A) showed no association, the synonymous AURKB Ser295Ser (885A 〉 G) polymorphism resulted in an increased breast cancer risk for carriers of the homozygous 885G genotype (OR = 1.45, 95% CI = 1.05-2.0, P = 0.02). Due to the impact of aurora kinases in the loss of chromosomal integrity during carcinogenesis, this variant may also influence the therapy outcome in breast cancer. (c) 2006 Elsevier Ireland Ltd. All rights reserved
    Type of Publication: Journal article published
    PubMed ID: 16762494
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  • 8
    Keywords: CANCER ; CELLS ; EXPRESSION ; tumor ; CELL ; Germany ; COMMON ; NEW-YORK ; RISK ; GENE ; GENES ; TUMORS ; REDUCTION ; ASSOCIATION ; chromosome ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; BREAST ; breast cancer ; BREAST-CANCER ; NO ; PROMOTER ; NUMBER ; AGE ; MUTATION ; SNP ; cancer risk ; REGION ; case-control studies ; CHROMOSOMES ; SINGLE ; ONCOLOGY ; case control study ; case-control study ; RE ; assembly ; TUMORIGENESIS ; CHECKPOINT ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; DEFECTS ; interaction ; CHROMOSOMAL INSTABILITY ; case control studies ; HAPLOTYPE ; HAPLOTYPES ; single-nucleotide ; PROFILES ; USA ; CANCERS ; CANCER-RISK ; DEFECT ; FAMILIAL BREAST ; familial breast cancer ; ANEUPLOIDY ; SPINDLE CHECKPOINT ; case control ; GENETIC-VARIATION ; CHROMOSOME SEGREGATION ; ethnicity ; MITOTIC CHECKPOINT ; E2F
    Abstract: Aneuploidy, an aberrant number of chromosomes, is a very common characteristic of many types of cancers, including tumors of the breast. There is increasing evidence that defects in the spindle assembly checkpoint, which controls correct chromosome segregation between two daughter cells, might contribute to tumorigenesis. In the present study we examined the effect of promoter and coding single nucleotide polymorphisms (SNPs) in six major spindle checkpoint genes (BUB1B, BUB3, CENPE, MAD2L1, MAD2L2, TTK) on familial breast cancer (BC) risk. A case-control study was carried out with a total of nine SNPs using 441 German, familial BC cases and 552 controls matched by age, ethnicity and geographical region. Neither the individual SNPs in the studied genes nor the haplotypes in the BUB1B, CENPE and TTK genes caused any significant effect on the risk of BC. We used the multifactor-dimensionality reduction method in order to identify gene-gene interactions among the six mitotic checkpoint genes, but no association was detected. Therefore, our results indicate that the investigated SNPs in the mitotic checkpoint genes do not affect the risk of familial BC
    Type of Publication: Journal article published
    PubMed ID: 17268814
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  • 9
    Keywords: RECEPTOR ; CANCER ; CELLS ; Germany ; human ; KINASE ; RISK ; SITE ; SITES ; PROTEIN ; PROTEINS ; DIFFERENTIATION ; TIME ; PATIENT ; IMPACT ; DOMAIN ; BINDING ; PHOSPHORYLATION ; PROTEIN-KINASE ; ASSOCIATION ; polymorphism ; SUSCEPTIBILITY ; VARIANTS ; ALPHA ; BREAST ; breast cancer ; BREAST-CANCER ; ACID ; TARGET ; resistance ; cancer risk ; GROWTH-INHIBITION ; LOCALIZATION ; PKA ; EXCHANGE ; CANCER-PATIENTS ; specificity ; CANCER PATIENTS ; OVEREXPRESSION ; CYCLIC-AMP ; ESTROGEN-RECEPTOR ; TAMOXIFEN ; SUBCELLULAR-LOCALIZATION ; RE ; VARIANT ; HUMAN CANCER ; ESTROGEN ; INTERVAL ; analysis ; estrogen receptor ; HUMAN CANCERS ; RISK-FACTOR ; CANCERS ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; PROTEIN-KINASE-A ; breast cancer susceptibility ; ALPHA SUBUNIT ; ANTISENSE OLIGODEOXYNUCLEOTIDE ; D-AKAP2 ; RII-BETA SUBUNIT
    Abstract: Overexpression of cAMP-dependent protein kinase A (PKA) is a hallmark of the great majority of human cancers including breast cancer. A-kinase anchoring proteins (AKAPs) coordinate the specificity of PKA signalling by localizing the kinase to its subcellular sites. We tested the hypothesis whether the functional amino acid exchange Ile646Val, located in the kinase-binding domain of AKAP10, is a low-penetrance familial breast cancer risk factor. Ile646Val alters the binding of AKAP10 to PKA and is associated with morbidity. The analysis of 787 BRCA1/2 mutation-negative familial breast cancer patients and 993 controls revealed an association of the AKAP10 Ile646Val polymorphism with increased familial breast cancer risk [odds ratio (OR) = 1.25, 95% confidence interval (CI) 1.03-1.51, P = 0.024]. Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR = 1.58). Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR = 2.41, 95% CI 1.30-4.46, P = 0.005). PKA is a major target of therapeutic anticancer strategies. Phosphorylation of the estrogen receptor (ER) alpha by PKA induces resistance against the anti-estrogen tamoxifen. Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility. Due to the impact of Ile646Val on the subcellular localization of PKA, it will be interesting to investigate whether this polymorphism influences the effectiveness of PKA and tamoxifen based therapeutic anticancer concepts
    Type of Publication: Journal article published
    PubMed ID: 16956908
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  • 10
    Keywords: CANCER ; EXPRESSION ; DISEASE ; RISK ; GENE ; GENES ; ASSOCIATION ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; genetics ; familial risk ; USA ; LOCI ; GENOME-WIDE ASSOCIATION ; CONFER SUSCEPTIBILITY ; Genetic ; 33 ; COMMON VARIANTS ; Genome-wide association studies
    Abstract: Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage(1). To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q
    Type of Publication: Journal article published
    PubMed ID: 19330027
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