Current status of genome-wide association studies in cancer

Charles C. Chung, Stephen J. Chanock

Research output: Contribution to journalArticle

Abstract

Genome-wide association studies in cancer have already identified over 150 regions associated with two dozen specific cancers. Already, a handful of multi-cancer susceptibility regions have been uncovered, providing new insights into perhaps common mechanisms of carcinogenesis. For each new susceptibility allele, investigators now face the arduous task of interrogating each region beginning with fine mapping prior to pursuing the biological basis for the direct association of one or more variants. It appears that there may be a significant number of common alleles that contribute to the heritability of a specific cancer. Since each region confers a small contribution to the risk for cancer, it is daunting to consider any single nucleotide polymorphism (SNP) as a clinical test. Since the complex genomic architecture of each cancer differs, additional genotyping and sequence analysis will be required to comprehensively catalog susceptibility alleles followed by the formidable task of understanding the interactions between genetic regions as well as the environment. It will be critical to assess the applicability of genetic tests in specific clinical settings, such as when to perform screening tests with calculable risks (e.g., biopsies or chemoprevention), before incorporating SNPs into clinical practice. To advance the current genomic observations to the clinical venue, new studies will need to be designed to validate the utility of known genetic variants in assessing risk for cancer as well as its outcomes.

Original languageEnglish (US)
Pages (from-to)59-78
Number of pages20
JournalHuman Genetics
Volume130
Issue number1
DOIs
StatePublished - Jul 2011
Externally publishedYes

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Genome-Wide Association Study
Neoplasms
Alleles
Single Nucleotide Polymorphism
Chemoprevention
Sequence Analysis
Carcinogenesis
Research Personnel
Biopsy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Current status of genome-wide association studies in cancer. / Chung, Charles C.; Chanock, Stephen J.

In: Human Genetics, Vol. 130, No. 1, 07.2011, p. 59-78.

Research output: Contribution to journalArticle

Chung, Charles C. ; Chanock, Stephen J. / Current status of genome-wide association studies in cancer. In: Human Genetics. 2011 ; Vol. 130, No. 1. pp. 59-78.
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