Full Study Name

HumGenDis - Molecular Pathology of Human Genetic Disease/ Clinical & Genetic Features of Condition

Lead Site


Local Principal Investigator

Professor Gareth Evans

Study Status


Main Aims

There are many different arms to this study, each one looking at separate conditions.

We need to investigate the genes/genetic factors of many individuals/families with exactly the same condition. The cells in your blood carry a complete set of your genetic material (genes), which we can study. We would like to better understand the gene(s)/genetic factors that may be the cause of the condition in you/your family.

Inclusion Criteria
  • Beckwith-Wiedemann Syndrome
  • Birt-Hogg-Dube
  • CNV Inherited Neoplasia
  • Multiple Pterygium syndrome
  • Phaeochromocytoma/paraganglioma
  • Renal cell carcinoma
  • Russell Silver Syndrome
  • Thyroid cancer
  • Von-Hippel Lindau disease
  • Multiple Primary Tumours (Patients who have had at least two primary tumours below 60 years of age or three primary tumours below 70 years of age and a clinical diagnosis of likely inherited cancer syndrome)
Exclusion Criteria
  •  Patients with a known underlying genetic cause of tumours (e.g. BRCA1 mutation.
  • Patients with a clinical phenotype that fits a known inherited cancer syndrome will be excluded until they have tested negative for a mutation in the relevant inherited cancer gene(s).
  • Patients considered to have tumours related to exposure to environmental carcinogen.
Open Sites

Lead Site: Birmingham. Aberdeen, Cambridge, Cardiff, Edinburgh, Exeter, Glasgow, GOSH, Guy's, Leeds, Leicester, Liverpool, Newcastle, North West London, Oxford, Sheffield, St Marys Hospital – Manchester

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