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Volume 45 Issue 4, April 2013

Editorial

  • An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide association studies (GWAS) still offer a reliable harvest of biological hypotheses for many diseases, together with the secondary benefit of slowly improving prediction.

    Editorial

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Foreword

  • We are pleased to present this iCOGS Focus comprising a collection of papers by the COGS (Collaborative Oncological Gene-environment Study) Consortium. This represents a significant advance in our understanding of genetic susceptibility to three hormone-related cancers—breast, ovarian and prostate.

    • Orli G Bahcall
    Foreword
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Commentary

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Research Highlights

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Article

  • Douglas Easton, Per Hall and colleagues report meta-analyses of genome-wide association studies for breast cancer, including 10,052 cases and 12,575 controls, followed by genotyping using the iCOGS array in an additional 52,675 cases and 49,436 controls from studies within the Breast Cancer Association Consortium (BCAC). They identify 41 loci newly associated with susceptibility to breast cancer.

    • Kyriaki Michailidou
    • Per Hall
    • Douglas F Easton

    Collection:

    Article
  • Paul Pharoah, Joellen Schildkraut, Thomas Sellers and colleagues report a meta-analysis of genome-wide association studies for epithelial ovarian cancer and genotyping using the iCOGS array in 18,174 cases and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. They identify three new ovarian cancer susceptibility loci, including one specific to the serous subtype, and their integrated molecular analysis of genes and regulatory regions at these loci suggests disease mechanisms.

    • Paul D P Pharoah
    • Ya-Yu Tsai
    • Thomas A Sellers

    Collection:

    Article
  • Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

    • Stig E Bojesen
    • Karen A Pooley
    • Alison M Dunning

    Collection:

    Article
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Letter

  • Rosalind Eeles and colleagues report meta-analysis of genome-wide association studies for prostate cancer and genotyping on the custom iCOGS array in 25,074 cases and 24,272 controls from 32 studies available in the PRACTICAL Consortium. They identify 23 new prostate cancer susceptibility loci, 20 of which are associated with both aggressive and non-aggressive disease.

    • Rosalind A Eeles
    • Ali Amin Al Olama
    • Douglas F Easton

    Collection:

    Letter
  • Montserrat Garcia-Closas and colleagues report a meta-analysis of three genome-wide association studies for estrogen receptor (ER)-negative breast cancer, including 4,193 ER-negative breast cancer cases and 35,194 controls, with replication using the iCOGS custom genotyping array in 40 studies, including 6,514 cases and 41,455 controls. They identify four loci associated with ER-negative but not ER-positive breast cancer.

    • Montserrat Garcia-Closas
    • Fergus J Couch
    • Peter Kraft

    Collection:

    Letter
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Analysis

  • Nilanjan Chatterjee and colleagues report a theoretical framework to assess the predictive performance of polygenic models for risk prediction, based on analysis of genome-wide association study data sets. Across a range of common diseases and quantitative traits, they examine how predictive performance depends on the sample size, the total heritability and the underlying effect-size distributions.

    • Nilanjan Chatterjee
    • Bill Wheeler
    • Ju-Hyun Park
    Analysis
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Article

  • Steven McCarroll, Giulio Genovese and colleagues report a new approach to help complete maps of the human genome reference sequence. They use a population-based admixture mapping approach and report the successful mapping of ~4 Mb of unplaced human euchromatic sequences.

    • Giulio Genovese
    • Robert E Handsaker
    • Steven A McCarroll
    Article
  • Jeramiah Smith, Weiming Li and colleagues report the whole-genome sequence of the sea lamprey, Petromyzon marinus, representing a vertebrate lineage diverged from humans ~500 million years ago. Their analyses define key evolutionary events in vertebrate lineages and provide evidence for two whole-genome duplication events occurring before the divergence of the ancestral lamprey and jawed vertebrate (gnathostome) lineages.

    • Jeramiah J Smith
    • Shigehiro Kuraku
    • Weiming Li
    Article Open Access
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Letter

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Focus

  • The iCOGS Focus highlights 13 papers in genetic epidemiology from the COGS consortium, representing a significant advance in our understanding of genetic susceptibility to breast, ovarian and prostate cancer.

    Focus
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