Full Study Name

BioResources – Multiple Primary Tumours

Local Principal Investigator

Professor William Newman

Study Status


Main Aims

To develop more affordable DNA-based tests for the diagnosis of rare diseases for which the gene is known. Accurate tests can be developed to obtain quicker diagnosis. This is important for selecting the best care and possible treatment, but also to provide accurate information to the wider family about risks to other family members.

To discover genes causing rare diseases; only half of the genes for rare diseases are currently known. Once the gene causing a rare disease has been identified, the search for better treatments can start.

Inclusion Criteria

Patients with either:

  • at least two primary tumours at age 60 years (or below), or three primary tumours at age 70 years (or below)
  • and a clinical diagnosis of likely inherited cancer syndrome.
Exclusion Criteria
  • Patients with a known underlying genetic cause of multiple primary 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

Belfast City Hospital, Birmingham Women’s Hospital, Cambridge University Hospitals, Cambridge University Hospitals NHS Foundation Trust, Manchester University  NHS Foundation Trust (St Mary's Hospital), Great Ormond Street Hospital for Children NHS Foundation Trust, London, Leeds University Hospitals, Newcastle upon Tyne NHS Foundation Trust, Northwick Park and St Mark’s Hospitals Clinical Genetics Centre, London University Hospital, Southampton NHS Foundation Trust, University Hospitals of Leicester NHS Trust, *Ninewells Hospitals Tayside NHS (in progress)

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