Tumour Disorders / Posted 2 years ago

HumGenDisMolecular pathology of human genetic disease

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 :
    • Patients affected by one of the following conditions: 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.
  • Study start date : 01/01/2007
  • Study end date : 31/03/2022
  • Wales-Based Study Contact : Please speak to your clinician
Contact details

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