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.
What do I need to know?
Rare, highly variants in a small number of genes (CDKN2A and CDK4) are associated with familial melanoma. These variants show an pattern. Only 1–2% of melanomas are due to in these genes.
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.
Genetic testing for CDKN2A may be offered through specialist genetics or dermatology services in individuals with:
- Three or more relatives affected by melanoma on the same side of the family
Other features within the family:
- multiple melanomas in the same person
- melanoma diagnosed <40 years of age
- ocular melanoma
- pancreatic cancer
Validated polygenic risk scores for melanoma are commercially available and may be used to provide individualised information about melanoma risk. Their precise role in risk-based melanoma prevention and screening in Australia is yet to be determined.
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.
Individuals with familial melanoma should be encouraged to advise family members to discuss their risk with their general practitioner (GP).
- J Newton-Bishop, T Bishop, M Harland. Melanoma genomics. Acta Derm Venereol. 2020. doi: 10.2340/00015555-3493
- Cancer Council Australia Clinical Practice Guidelines for the diagnosis and management of melanoma. Last updated Apr 2021. https://wiki.cancer.org.au/australia/Guidelines:Melanoma
- The Royal Australian College of General Practitioners Guidelines for preventive activities in general practice. 9th edn. Melbourne: RACGP, 2016. [Accessed 6 September 2022].
Resource for general practitioners
Resources for patients