Genomics in general practice

Familial melanoma

Last revised: 30 Nov 2018

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

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 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.

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

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

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