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This fact sheet contains general information about Gorlin syndrome. Each person should be referred to a genetic service for further information and advice.

Key Points

  • Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome) is caused by faults (mutations) in the PTCH1 gene.
  • People with Gorlin syndrome have an increased chance of developing skin cancers and childhood brain cancer.
  • People with Gorlin syndrome have an increased chance of developing jaw cysts and skeletal differences.
  • People with Gorlin syndrome and their family members (including infants and children) can be referred to a genetic service where experts can provide information, advice and support about their chance of developing cancer and the option of genetic testing.  

This cancer genetics fact sheet is a guide only and cannot cover every possible situation. The information provided is not intended to replace discussion with a health professional, and should not be interpreted as medical advice. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use of this document is subject to eviQ's disclaimer available at www.eviQ.org.au/copyright  

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https://www.eviq.org.au/p/3435

22 Feb 2024