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

BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53
  • Identification of a hereditary susceptibility to malignant melanoma
  • Development of a clinical surveillance plan for early detection
  • Identification of at-risk family members
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B399
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81216x1, 81321x1, 81323x1, 81405x1 to 81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  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)