Genetic determinants of cutaneous melanoma predisposition

Durga Udayakumar, Bisundev Mahato, Michele Gabree, Hensin Tsao

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


In the last 2 decades, advances in genomic technologies and molecular biology have accelerated the identification of multiple genetic loci that confer risk for cutaneous melanoma. The risk alleles range from rarely occurring, high-risk variants with a strong familial predisposition to low-risk to moderate-risk variants with modest melanoma association. Although the high-risk alleles are limited to the CDKN2A and CDK4 loci, the authors of recent genome-wide association studies have uncovered a set of variants in pigmentation loci that contribute to low risk. A biological validation of these new findings would provide greater understanding of the disease. In this review we describe some of the important risk loci and their association to risk of developing cutaneous melanoma and also address the current clinical challenges in CDKN2A genetic testing.

Original languageEnglish (US)
Pages (from-to)190-195
Number of pages6
JournalSeminars in cutaneous medicine and surgery
Issue number3
StatePublished - Sep 2010

ASJC Scopus subject areas

  • Surgery
  • Dermatology


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