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  • 1
    Keywords: CELLS ; EXPRESSION ; carcinoma ; RISK ; GENE ; leukemia ; MYC ; GENOME-WIDE ASSOCIATION ; NEBULETTE ; 19P13
    Abstract: Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusion on the iCOGS custom genotyping array. We performed follow-up genotyping in 18,174 individuals with EOC (cases) and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. We validated the two loci at 3q25 and 17q21 that were previously found to have associations close to genome-wide significance and identified three loci newly associated with risk: two loci associated with all EOC subtypes at 8q21 (rs11782652, P = 5.5 x 10(-9)) and 10p12 (rs1243180, P = 1.8 x 10(-8)) and another locus specific to the serous subtype at 17q12 (rs757210, P = 8.1 x 10(-10)). An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility and implicated CHMP4C in the pathogenesis of ovarian cancer.
    Type of Publication: Journal article published
    PubMed ID: 23535730
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  • 2
    Keywords: DISEASE ; DISEASES ; GENE ; GENES ; PROTEIN ; PROTEINS ; RNA ; DNA ; recombination ; tumour ; BIOLOGY ; SEQUENCE ; chromosome ; NUMBER ; MUTATION ; inactivation ; REGION ; MUTATIONS ; EVOLUTION ; DEGRADATION ; CHROMOSOMES ; GENE FAMILY ; AID ; HUMAN GENOME SEQUENCE ; INACTIVATION CENTER ; LINKED MENTAL-RETARDATION ; MAMMALIAN Y-CHROMOSOME ; REPEAT HYPOTHESIS
    Abstract: The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence
    Type of Publication: Journal article published
    PubMed ID: 15772651
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  • 3
    Keywords: CANCER ; CELL ; LUNG ; PATHWAY ; PATHWAYS ; lung cancer ; LUNG-CANCER ; EPIDEMIOLOGY ; RISK ; GENE ; GENES ; validation ; DNA ; BIOMARKERS ; cell cycle ; CELL-CYCLE ; SEQUENCE ; ASSOCIATION ; SUSCEPTIBILITY ; SUSCEPTIBILITY LOCUS ; VARIANTS ; HEALTH ; NUMBER ; REPAIR ; smoking ; p53 ; cancer risk ; FRANCE ; genotyping ; DNA repair ; TP53 ; ONCOLOGY ; VARIANT ; METAANALYSIS ; XRCC1 ; SINGLE-NUCLEOTIDE POLYMORPHISMS ; biomarker ; analysis ; methods ; DNA repair genes ; pooled analysis ; USA ; cancer research ; CANCER-RISK ; OGG1 ; NOV ; GENOME-WIDE ASSOCIATION ; association study ; XRCC3 ; discussion ; POOLED-ANALYSIS ; CONSORTIUM ; genetic variants ; GENOME-WIDE ; APEX1
    Abstract: Background: The International Lung Cancer Consortium was established in 2004. To clarify the role of DNA repair genes in lung cancer susceptibility, we conducted a pooled analysis of genetic variants in DNA repair pathways, whose associations have been investigated by at least 3 individual studies. Methods: Data from 14 studies were pooled for 18 sequence variants in 12 DNA repair genes, including APEX1, OGG1, XRCC1, XRCC2, XRCC3, ERCC1, XPD, XPF, XPG, XPA, MGMT, and TP53. The total number of subjects included in the analysis for each variant ranged from 2,073 to 13,955 subjects. Results: Four of the variants were found to be weakly associated with lung cancer risk with borderline significance: these were XRCC3 T241M [heterozygote odds ratio (OR), 0.89; 95% confidence interval (95% CI), 0.79-0.99 and homozygote OR, 0.84; 95% Cl, 0.71-1.00] based on 3,467 cases and 5,021 controls from 8 studies, XPD K751Q (heterozygote OR, 0.99; 95% Cl, 0.89-1.10 and homozygote OR, 1.19; 95% CI, 1.02-1.39) based on 6,463 cases and 6,603 controls from 9 studies, and TP53 R72P (heterozygote OR, 1.14; 95% Cl, 1.00-1.29 and homozygote OR, 1.20; 95% CI, 1.02-1.42) based on 3,610 cases and 5,293 controls from 6 studies. OGG1 S326C homozygote was suggested to be associated with lung cancer risk in Caucasians (homozygote OR, 1.34; 95% CI, 1.01-1.79) based on 2,569 cases and 4,178 controls from 4 studies but not in Asians. The other 14 variants did not exhibit main effects on lung cancer risk. Discussion: In addition to data pooling, future priorities of International Lung Cancer Consortium include coordinated genotyping and multistage validation for ongoing genome-wide association studies. (Cancer Epidemiol Biomarkers Prev 2008;17(11):3081-9)
    Type of Publication: Journal article published
    PubMed ID: 18990748
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