Genetics of Endocrine tumours

 Genetics / Posted 1 year ago

The Genetics of Endocrine Tumours is an observational clinical trial. The study currently has 500 families and 3000 sporadic subjects recruited from almost 50 NHS sites around the country.
Any patient with a pituitary tumour is eligible to enrol, though we are particularly interested in the cohort of familial isolated pituitary adenoma (FIPA) patients.

FIPA accounts for around 5% of pituitary adenomas with 20% of these patients having a mutation in the gene Aryl Hydrocarbon Receptor Interacting protein (AIP). Our study has helped to characterise AIP and other novel genes that contribute to pituitary tumorigenesis.

We are lucky to receive regular bloods and fresh tissue from pituitary tumour patients which are used for DNA/RNA analysis, tissue culture and in-vivo models.

  • Inclusion Criteria :
    • Any pituitary tumour diagnosed before the age of 18
    • A large pituitary tumour diagnosed before the age of 30
    • One or more family members with pituitary disease
  • Study start date : 01/03/2007
  • Study end date : 31/12/2037
  • Principal Investigator : Dr Aled Rees

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