Diagnostics

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Melanoma Panel

The Melanoma Panel is a comprehensive next-generation sequencing (NGS) panel that analyzes genes associated with increased risks for hereditary melanoma.

Melanoma affects approximately 2.2% of individuals in their lifetime (SEERP). Although the majority of melanoma is not related to heritable factors, some cases are associated with underlying genetic causes. Individuals who carry disease-causing genetic changes may be at significantly increased risk of developing melanoma in their lifetime. For example, individuals with a pathogenic CDKN2A variant have a 28%-67% lifetime risk to develop melanoma (Bishop et al, 2002; Begg et al, 2005). Frequently, changes in genes that result in increased risks for melanoma also predispose individuals to increased risks for other malignancies.

Included Disorders

This panel includes genes associated with:

  • Hereditary breast and ovarian cancer syndrome (HBOC)
  • Hereditary cutaneous melanoma
  • Hereditary melanoma and pancreatic cancer syndrome
  • Li-Fraumeni syndrome

Inheritance

Hereditary melanoma is typically inherited in an autosomal dominant manner, although bi-allelic BRCA2 mutations are associated with autosomal recessive Fanconi anemia.

Indications for Testing

  • A personal history of melanoma
  • A personal history of multiple primary cancers
  • A family history suggestive of a hereditary cancer syndrome, including multiple individuals on the same side of a family diagnosed with cancer, especially at ages below population averages
  • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of a hereditary cancer syndrome

Methodology

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering.

Included Genes (9)

BAP1 BRCA2 CDK4 CDKN2A MITF POT1 PTEN RB1 TP53

Additions to the Melanoma Panel:

Emerging evidence genes can also be added onto the comprehensive panel. These genes do not have a clear association with hereditary melanoma, but emerging evidence suggests that they may play a role in disease pathogenesis.

Emerging Evidence (2):

TERT BRCA1

References:

  • Begg CB, Orlow I, Hummer AJ, et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005;97(20):1507-15.
  • Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94(12):894-903.
  • Surveillance, Epidemiology, and End Results Program. Cancer Stat Fact Sheets (SEERP) [Accessed April 20, 2017]. Available from: http://seer.cancer.gov/