Genomics in general practice

Familial melanoma
☰ Table of contents

Practice point

In order to identify patients who may be at risk of familial melanoma, a comprehensive family history must be taken and regularly updated.

Genetic testing for melanoma risk is not routine as it is does not alter the patient’s management in most cases.1–3


What do I need to know?

Rare, highly penetrant variants in a small number of genes (CDKN2A and CDK4) are associated with familial melanoma. These variants show an autosomal dominant inheritance pattern. Only 1–2% of melanomas are due to pathogenic variants.1,2

Having a first-degree relative with melanoma approximately doubles an individual’s risk of developing melanoma. Having relatives who are affected with multiple melanomas or at a younger age further increases the risk of developing melanoma.3

Features within a family that are suggestive of increased risk of carrying a pathogenic variant for familial melanoma include having three or more relatives affected by melanoma on the same side of the family.

Other features and red flags within a family are:1

  • multiple melanomas in the same person
  • melanoma diagnosed <40 years of age
  • ocular melanoma
  • pancreatic cancer
  • astrocytoma.

Genetic testing

Genetic testing for CDKN2A gene variants has limited clinical utility in general practice. Testing should be restricted to selected families with a strong history of melanoma.1,3 Assessment of individuals for genetic testing is performed by a family cancer clinic.

When should I refer? 

Individuals with more than one family member with melanoma should be referred to a dermatologist for clinical risk management.

Individuals with three or more relatives affected with melanoma and/or pancreatic cancer in the family should be referred to
a family cancer clinic for genetic risk assessment.3,4

Other considerations

Individuals with familial melanoma should be encouraged to advise family members to discuss their risk with their general practitioner (GP).


Resource for general practitioners

Cancer Institute NSW, eviQ

Resources for patients


Centre for Genetics Education, Fact sheet 34: Genetics and melanoma


Cancer Australia

Cancer Council Australia

Melanoma Institute Australia

Genomics in general practice



  1. Kefford R, Bishop JN, Tucker M, et al. Genetic testing for melanoma. Lancet Oncol. 2002;3(11):653–54.
  2. National Cancer Institute (US). Genetics of skin cancer (PDQ) – Health professional version. Bethesda, MD: NIH, 2017.  [Accessed 19 December 2017].
  3. Australian Cancer Network Melanoma Guidelines Revision Working Party. Clinical practice guidelines for the management of melanoma in Australia and New Zealand. Sydney/Wellington: Cancer Council Australia/Australian Cancer Network/Ministry of Health, New Zealand, 2008. [Accessed 19 December 2017].
  4. The Royal Australian College of General Practitioners. Guidelines for preventive activities in general practice. 9th edn. Melbourne: RACGP, 2016. [Accessed 19 December 2017].


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