Transdisciplinary Studies of Genetic Variation in Colorectal Cancer(CORECT): Axiom GWAS

This study is part 1 of 2 for Schumacher et al, Nat Commun. 2015 Jul 7;6:7138. Part 1 is the original GWAS data for 9,259 participants on the Affymetrix Axiom platform of the studies listed below in the Inclusion Criteria.

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• dbGaP estimated ancestry using GRAF-pop

Inclusion Criteria

The CORECT consortium coordinated the analysis of six observational studies of CRC for the present analysis:

1. Molecular Epidemiology of Colorectal Cancer (Israel),
2. Colon Cancer Family Registry,
3. Kentucky case-control study,
4. American Cancer Society CPS II nested case-control study,
5. Melbourne nested case-control study and
6. Newfoundland case-control study.

Genotyping as part of CORECT was conducted using a custom Affymetrix genome-wide platform (the Axiom CORECT Set) with ~1.3 million SNPs and insertions and deletions (indels) on two physical genotyping chips (pegs). Cases were included who had pathologically confirmed adenocarcinoma of the colon or rectum.

Exclusion Criteria

Healthy control definitions varied by study, but individuals were restricted to those without a personal history of cancer of the colon or rectum. Please see supplementary methods for study-specific definitions of controls Cases with only adenomas were excluded. Cases were restricted to those with adenocarcinoma of the colon or rectum.

(Schumacher et al, Nat Commun. 2015 Jul 7;6:7138).

The Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative was launched by NCI in 2010 in response to RFA-CA-09-002 , and was jointly supported by the Epidemiology and Genomics Research Program and the Division of Cancer Biology. GAME-ON's overall goal was to foster an intra-disciplinary and collaborative approach to the translation of promising research leads deriving from the initial wave of cancer genome-wide association studies (GWAS).

The long-term goal of the GAME-ON initiative was to provide a rigorous knowledge base that would enable clinical translation and public health dissemination of cancer GWAS findings. Teams of epidemiologists, basic scientists, and clinicians accomplished this goal by collaborating on follow-up investigations of genomic regions that have been implicated in susceptibility to certain cancer types. The post-GWAS continuum of research addressed by this network of consortia includes:

Replication of previous findings and identification of new susceptibility loci through pooled or meta analyses and extension of GWAS to diverse populations.

• Primary Phenotype: Colorectal Neoplasms

• BioProject
• PubMed
• PMC

• Principal Investigator
  • Stephen B. Gruber. USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.