Familial Cutaneous Malignant Melanoma

It is estimated that about 10% of melanoma is hereditary. Individuals with familial melanoma have a genetic predisposition to develop multiple clinically abnormal, histologically dysplastic, pigmented nevi distributed over both sun-exposed and sun-protected areas of the body. The age of onset tends to be earlier than in individuals with sporadic (non-hereditary) melanoma. Affected individuals also have an increased risk to develop ocular melanoma, and some families show a predisposition to pancreatic cancer.

Tests Available

Forms and Documents

Test Details

  • Identification of a hereditary susceptibility to malignant melanoma
  • Development of a clinical surveillance plan for early detection
  • Identification of at-risk family members


2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81404x1, 81479x1
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. Begg CB et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005 Oct 19;97(20):1507-15. (PMID: 16234564)
  2. Bishop DT et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. (PMID: 12072543)
  3. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID: 23135763)
  4. de Snoo FA et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res. 2008 Nov 1;14(21):7151-7. (PMID: 18981015)
  5. Gabree M et al. Clinical applications of melanoma genetics. Curr Treat Options Oncol. 2014 Jun;15(2):336-50. (PMID: 24652319)
  6. Goldstein AM et al. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat. 2004 Jun;23(6):630. (PMID: 15146471)
  7. Goldstein AM et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007 Feb;44(2):99-106. (PMID: 16905682)
  8. Hayward NK et al. Genetics of melanoma predisposition. Oncogene. 2003 May 19;22(20):3053-62. (PMID: 12789280)
  9. Mistry SH et al. Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer. 2005 Nov;44(3):292-300. (PMID: 16032697)
  10. National Cancer Institute. Melanoma. (URL: http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page4#Section_397) [November 2014 accessed]
  11. Puntervoll HE et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013 Apr;50(4):264-70. (PMID: 23384855)
  12. Randerson-Moor JA et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001 Jan 1;10(1):55-62. (PMID: 11136714)
  13. Royal College of Physicians and British Association of Dermatologists. The prevention, diagnosis, referral and management of melanoma of the skin; concise guidelines. Concise guidance to good practice series, No 7. London: RCP, 2007 (URL: https://www.rcpl
  14. Rulyal SJ et al. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer. 2003 Aug 15;98(4):798-804. (PMID: 12910525)
  15. Sekulic A et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008 Jul;83(7):825-46. (PMID: 18613999)
  16. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2014 accessed].
  17. van der Ree J et al. Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol. 2011 Aug;65(2):281-8. (PMID: 21570156)
  18. Vasen HF et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16- Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. (PMID: 10956390)