Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: Lessons from genome-wide association studies

Durga Udayakumar, Hensin Tsao

Research output: Contribution to journalShort survey

9 Scopus citations

Abstract

Cutaneous malignancies, especially malignant melanoma, exhibit great genetic heterogeneity. As a result, some individuals and families have particularly increased risk due to genetic predisposition to the disease. The susceptibility alleles range from rarely occurring, heritable, high-risk variants to ubiquitously occurring low-risk variants. Although until now the focus has been mostly towards the familial high-risk genes, the development of genome-wide association studies has uncovered a number of moderate- to low-risk predisposition alleles. The ability to specifically identify genetic variation associated with visible pigmentation traits and disease risk has provided a much richer view of the genetics of cutaneous malignancies. In this review, we provide an update on the recently identified risk loci. Existing clinical data, combined with vast genome information, will provide a better understanding of the biology of disease, and increased accuracy in risk prediction.

Original languageEnglish (US)
Article numbergm95
JournalGenome Medicine
Volume1
Issue number10
DOIs
StatePublished - Oct 27 2009

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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