• National Cancer Institute
  • National Human Genome Research Institute

AACR 2012: NCI-Sponsored Session: Beyond GWAS: Leveraging Large-Scale Cancer Genomics Datasets for Germline Discovery

Monday, April 2, 3:15- 4:45 PM
Room W194 at McCormick Place West, Chicago, Ill.
See the poster.

Substantial progress has been made both in understanding the germline component of cancer susceptibility and the somatic mutations that characterize various tumor genomes. With more than 25,000 cancer-normal genomes estimated to be completed worldwide by the end of 2014, the NCI is working to determine how best to leverage these data to better understand cancer biology and how they will help to improve strategies for cancer prevention, early detection, diagnosis, and treatment. 

This session will include a brief introduction describing the state of the science for each field and presentations by researchers who have begun to bring together germline and somatic data to better understand mechanisms of cancer risk, initiation, and progression. The session will also review how data types have changed over time, focusing on how next-generation sequencing is being employed to yield more precise information about the underlying genomic variation that influences tumor etiology and biology. Joint analysis of both the germline and somatic genomes can help us to better understand how identified cancer risk alleles contribute to carcinogenesis, whether risk alleles and somatic mutations interact, and whether the pathways involved in cancer risk, initiation, progression, and prognosis intersect. 

This session will provide a venue in which to explore issues such as tools needed to integrate germline and somatic data (e.g., biospecimens, analytical tools/software, and expertise); privacy and access issues, particularly with regard to germline data; the effects of host background on the somatic mutation process; and how somatic data can be used to classify tumors by molecular profile to better understand tumor heterogeneity. Integrative analysis of these two data sets will leverage the substantial investment made in both somatic and germline cancer genomics. The goal of this session is to provide a forum at which investigators who are expert in each area and also in the arena of combining germline and somatic cancer genome data can stimulate discussion and ideas for further integration of these two fields with the participants. Moreover attendees will benefit from the exposure to software tools and novel methods available for combining these data sets.

Chairperson: Elizabeth Gillanders, National Cancer Institute, Bethesda, Md.

  • Using TCGA Data To Discover Target Genes Of Cancer Risk Loci Identified In Genome Wide Association Studies: Matt Freedman, Dana Farber Cancer Institute, Boston, Mass.
  • Using TCGA Data To Understand The Functional Mechanisms Underlying Common, Low-Moderate Risk Susceptibility Loci: Simon Gayther, University of Southern California/Keck School of Medicine, Los Angeles, Calif.
  • Bridging Germ Line and Somatic Variation in Multiplex Childhood Cancer Families: Sharon Plon, Baylor College of Medicine, Houston, Texas
  • Analysis of Germline Mutations in TCGA: Adam Kiezun, Broad Institute, Cambridge, Mass.
  • Participant Consent, Control and Privacy: Enduring Challenges in Genomic Research: Timothy Caulfield, University of Alberta, Edmonton AB, Canada
  • Summary, Q&A, and Audience Feedback: Elizabeth Gillanders. National Cancer Institute, Bethesda, Md. and Kenna Shaw. National Cancer Institute, Bethesda, Md.