0a8264959ba4752a03700343dda167e0  pmc_27601076.pdf
e13bddb9cea42190aca38b0408338b396d731ba2  pmc_27601076.pdf

Title:          Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
Subject:        Nature Communications 7,  (2016). doi:10.1038/ncomms12675
Author:         Kate Lawrenson
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       Item: 
        Title: Results
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        Children: 
         Item: 
          Title: Genetic association analyses with breast and OC risks
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2a33fae0
       Item: 
        Title: Figure™1Regional association plot disease-specific risk associations.Results for ER negative breast cancer from BCAC, for ovarian cancer from OCAC and for BRCA1 mutation carriers with breast cancer from CIMBA are shown. Also shown are the results of a met
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@707f7052
        Children: 
         Item: 
          Title: Candidate causal variants
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11028347
         Item: 
          Title: Associations for BRCA1 and BRCA2 mutation carriers
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@14899482
       Item: 
        Title: Table 1 
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@21588809
        Children: 
         Item: 
          Title: Associations with risk among BC subtypes
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2aae9190
         Item: 
          Title: Analysis in Asian and African ancestry studies
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2f333739
         Item: 
          Title: Functional characterization of the 19p13.1 region
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77468bd9
         Item: 
          Title: Genotype-gene expression associations
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12bb4df8
         Item: 
          Title: Chromosome conformation capture
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         Item: 
          Title: Annotation of candidate causal SNPs
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a7b0070
       Item: 
        Title: Figure™2Expression quantitative trait locus analyses.Significant eQTL associations identified between rs4808616 and ABHD8 expression in (a) ovarian cancer tissues and (b) in normal breast tissues. (c) A significant association was also identified between 
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@39a054a5
        Children: 
         Item: 
          Title: Functional analysis of candidate causal SNPs in UTRs
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@71bc1ae4
         Item: 
          Title: Functional analysis of promoter and enhancer SNPs
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       Item: 
        Title: Figure™3Chromosome conformation capture analysis of long-range interactions at the 19p13 region.3C interaction profiles in breast and ovarian cell lines. 3C libraries were generated with NcoI, with the anchor point set at the ABHD8 promoter region. (a) A 
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        Children: 
         Item: 
          Title: Functional effects of rs56069439 deletion
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1f89ab83
         Item: 
          Title: In vitro functional analysis of candidate genes
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e73f9ac
       Item: 
        Title: Discussion
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@61064425
       Item: 
        Title: Figure™4Epigenetic marks intersecting candidate causal SNPs in the 19p13 susceptibility region and analyses of UTR SNPs.The thirteen candidate SNPs were aligned with open chromatin and enhancer marks (H3K27ac and H3K4me1) in high-grade serous ovarian canc
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b1d7fff
       Item: 
        Title: Figure™5Allele specific analysis of susceptibility SNPs.(a) Location of SNPs in putative regulatory elements (PREs) and 5prime untranslated regions. (b) RNA stability assays in primary ovarian epithelial cell lines for risk-associated UTR SNPs in ABHD8 an
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@299a06ac
       Item: 
        Title: Figure™6Effects of deletion of the putative enhancer containing the rs56069439 risk SNP in breast and ovarian epithelial cells.(a) Illustration of the 57thinspbp region in an intron of ANKLE1 containing rs56069439; H3K4me1 marks overlapped rs56069439 in o
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       Item: 
        Title: Methods
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        Children: 
         Item: 
          Title: Study populations
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b3300e5
         Item: 
          Title: BC association consortium
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2e5c649
         Item: 
          Title: OC association consortium
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@136432db
       Item: 
        Title: Figure™7Phenotypic effects of overexpressing full length ABHD8GFP fusion transcript in normal breast and ovarian epithelial cells.(a) ABHD8 overexpression induced a significant decrease in migration in both breast (MCF10A) and ovarian (IOSE19) cells; (b) 
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        Children: 
         Item: 
          Title: Consortium of investigators of modifiers of BRCA1sol2
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1055e4af
         Item: 
          Title: iCOGS SNP selection for fine mapping and imputation
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         Item: 
          Title: BCAC and OCAC association analysis and logistic regression
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          Title: CIMBA retrospective cohort analysis
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          Title: Meta-analysis
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         Item: 
          Title: eQTL and allele-specific expression analyses
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1c6b6478
         Item: 
          Title: Breast and ovarian normal and cancer cell lines
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@67f89fa3
         Item: 
          Title: Functional annotation of risk SNPs
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4ac68d3e
         Item: 
          Title: Chromosome conformation capture
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@277c0f21
         Item: 
          Title: RNA stability assays
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6073f712
         Item: 
          Title: Promoter and allele specific enhancer assays
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@43556938
         Item: 
          Title: Genome editing
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@3d04a311
         Item: 
          Title: In vitro analysis of candidate genes
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a46a697
         Item: 
          Title: Data availability
          Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@5f205aa
       Item: 
        Title: EastonD. F.Genome-wide association study identifies novel breast cancer susceptibility lociNature447108710932007AhmedS.Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2Nat. Genet.415855902009GhoussainiM.Genome-wide association analysi
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       Item: 
        Title: We thank all the individuals who took part in these studies and all the researchers, clinicians, technicians and administrative staff who have enabled this work to be carried out, in particular those involved in the COGS project: Rosalind A. Eeles, Ali Am
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       Item: 
        Title: ACKNOWLEDGEMENTS
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       Item: 
        Title: Author contributions
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       Item: 
        Title: Additional information
        Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77afea7d
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    Title: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus
    Author: Kate Lawrenson
    Subject: Nature Communications 7,  (2016). doi:10.1038/ncomms12675
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