The genetics of cutaneous melanoma

P. M. Pollock, J. M. Trent

Research output: Contribution to journalArticle

Abstract

Although germline mutations in CDKN2A are present in approximately 25% of large multicase melanoma families, germline mutations are much rarer in the smaller melanoma families that make up most individuals reporting a family history of this disease. In addition, only three families worldwide have been reported with germline mutations in a gene other than CDKN2A (i.e., CDK4). Accordingly, current genomewide scans underway at the National Human Genome Research Institute hope to reveal linkage to one or more chromosomal regions, and ultimately lead to the identification of novel genes involved in melanoma predisposition. Both CDKN2A and PTEN have been identified as genes involved in sporadic melanoma development; however, mutations are more common in cell lines than uncultured tumors. A combination of cytogenetic, molecular, and functional studies suggests that additional genes involved in melanoma development are located to chromosomal regions 1p, 6q, 7p, 11q, and possibly also 9p and 10q. With the near completion of the human genome sequencing effort, combined with the advent of high throughput mutation analyses and new techniques including cDNA and tissue microarrays, the identification and characterization of additional genes involved in melanoma pathogenesis seem likely in the near future.

Original languageEnglish (US)
Pages (from-to)667-690
Number of pages24
JournalClinics in Laboratory Medicine
Volume20
Issue number4
StatePublished - 2000
Externally publishedYes

Fingerprint

Melanoma
Genes
Skin
Germ-Line Mutation
National Human Genome Research Institute (U.S.)
p16 Genes
Mutation
Human Genome
Oligonucleotide Array Sequence Analysis
Tumor Cell Line
Cytogenetics
Microarrays
Genetics
Tumors
Complementary DNA
Cells
Throughput
Tissue

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Pollock, P. M., & Trent, J. M. (2000). The genetics of cutaneous melanoma. Clinics in Laboratory Medicine, 20(4), 667-690.

The genetics of cutaneous melanoma. / Pollock, P. M.; Trent, J. M.

In: Clinics in Laboratory Medicine, Vol. 20, No. 4, 2000, p. 667-690.

Research output: Contribution to journalArticle

Pollock, PM & Trent, JM 2000, 'The genetics of cutaneous melanoma', Clinics in Laboratory Medicine, vol. 20, no. 4, pp. 667-690.
Pollock PM, Trent JM. The genetics of cutaneous melanoma. Clinics in Laboratory Medicine. 2000;20(4):667-690.
Pollock, P. M. ; Trent, J. M. / The genetics of cutaneous melanoma. In: Clinics in Laboratory Medicine. 2000 ; Vol. 20, No. 4. pp. 667-690.
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