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.
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
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
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)
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):
- 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/