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  • 1
    Keywords: CANCER ; Germany ; COMMON ; POPULATION ; RISK ; GENE ; SAMPLE ; PATIENT ; SKIN ; SEQUENCE ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; BREAST-CANCER ; NO ; MUTATION ; ACUTE LYMPHOBLASTIC-LEUKEMIA ; MELANOMA ; PATHOGENESIS ; REGION ; MALIGNANT-MELANOMA ; MELANOMA PATIENTS ; malignant melanoma ; SUSCEPTIBILITY GENE ; SINGLE ; molecular ; ONCOLOGY ; ASSOCIATIONS ; RE ; SINGLE NUCLEOTIDE POLYMORPHISMS ; analysis ; HAPLOTYPE ; HAPLOTYPES ; single-nucleotide ; PREDISPOSITION ; USA ; VITAMIN-D-RECEPTOR ; MEDICINE ; case control ; German ; case-control ; association study ; genetic analysis ; DNA-DAMAGE RESPONSE ; GERMLINE 657DEL5 MUTATION ; NBS1 ; NIJMEGEN-BREAKAGE-SYNDROME
    Abstract: The aim of this study was to investigate the role of NBS1 in the pathogenesis of malignant melanoma of the skin. To exclude the common 657del5 founder mutation, a total of 376 melanoma patients from Southern Germany were analyzed for sequence alterations in exon 6 of NBS1 by direct sequencing. Analyses revealed one 657del5 mutation and three nonsynonymous sequence variations in exon 6 of NBS1 (V210F, R215W, and F222L). Analysis of an additional sample of 629 melanoma patients and 604 controls revealed no F222L mutation, indicating that this newly identified sequence alteration is not a common polymorphism. In a case-control association study including 632 melanoma patients and 615 cancer-free control participants from Southern Germany, three publicly known single nucleotide polymorphisms located in the NBS1 gene region were analyzed. No significant associations between single nucleotide polymorphisms (rs9995, rs867185 and rs1063045) or referring calculated haplotypes and melanoma risk were identified. These results suggest that NBS1 does not play a major role in predisposition to melanoma in the Southern German population but that alterations of this gene might contribute to the risk of this cancer
    Type of Publication: Journal article published
    PubMed ID: 17496786
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  • 2
    Keywords: GENE ; MELANOGASTER ; BINDING-PROTEIN ; CHAPERONE ; REACTION CYCLE ; INTERACTION NETWORK ; IMAGINAL DISCS ; HUMAN TRANSCRIPTION MACHINERY ; R2TP COMPLEX ; 2ND CHROMOSOME
    Abstract: The R2TP is a recently identified Hsp90 co-chaperone, composed of four proteins as follows: Pih1D1, RPAP3, and the AAA(+)-ATPases RUVBL1 and RUVBL2. In mammals, the R2TP is involved in the biogenesis of cellular machineries such as RNA polymerases, small nucleolar ribonucleoparticles and phosphatidylinositol 3-kinase-related kinases. Here, we characterize the spaghetti (spag) gene of Drosophila, the homolog of human RPAP3. This gene plays an essential function during Drosophila development. We show that Spag protein binds Drosophila orthologs of R2TP components and Hsp90, like its yeast counterpart. Unexpectedly, Spag also interacts and stimulates the chaperone activity of Hsp70. Using null mutants and flies with inducible RNAi, we show that spaghetti is necessary for the stabilization of snoRNP core proteins and target of rapamycin activity and likely the assembly of RNA polymerase II. This work highlights the strong conservation of both the HSP90/R2TP system and its clients and further shows that Spag, unlike Saccharomyces cerevisiae Tah1, performs essential functions in metazoans. Interaction of Spag with both Hsp70 and Hsp90 suggests a model whereby R2TP would accompany clients from Hsp70 to Hsp90 to facilitate their assembly into macromolecular complexes.
    Type of Publication: Journal article published
    PubMed ID: 24394412
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  • 3
    Keywords: CANCER ; tumor ; Germany ; RISK ; GENE ; PATIENT ; IMPACT ; ASSOCIATION ; polymorphism ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; MELANOMA ; TUMOR-SUPPRESSOR GENE ; cancer risk ; HIGH-RISK ; INDIVIDUALS ; familial cancer ; BREAST-CANCER RISK ; RE ; TUMOR-SUPPRESSOR ; VARIANT ; ENHANCEMENT ; tumor suppressor gene ; INCREASED RISK ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; ARLTS1 ; multiple melanomas
    Abstract: Variants in the tumor suppressor gene ARLTS1 (ADP-ribosylation factor-like tumor-suppressor gene 1) have been shown to influence familial cancer risk. Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively. We studied the impact of these gene variants on melanoma risk, investigating 351 melanoma patients and 804 control subjects. While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02). An additional risk enhancement, though statistically non-significant, was observed in individuals with multiple melanomas (OR = 2.33, 95 % CI = 0.87-6.26, p = 0.08). (c) 2006 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 16646072
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