DAA241

Finding genetic causes of multiple tumours occurring in the same individual

Genomics and Rare Diseases
  • Lead ResearcherJames Whitworth
  • Study TypeSamples and data
  • InstitutionUniversity of Cambridge
  • Researcher TypeAcademic

Study summary

This study is about multiple primary tumours which affects patients that develop more than one type of tumour that arises independently from the first. This means that another tumour is not the result of the spread of the first tumour (metastasis). This condition known as multiple primary tumours. There are a variety of reasons why someone who has had a tumour might develop a second primary tumour including genetic and environmental factors, the effects of cancer treatment (e.g. radiation and chemotherapy) or detection during routine follow-ups. However, genetic factors are known to be important, particularly in patients who develop tumours early in life. The identification of patients with a genetic cause is important to ensure that they can receive the best treatment and their relatives can access early cancer detection programmes. Certain combinations of tumour types may suggest a particular inherited cause for multiple tumours, but our research has shown that this is not always reliable. Previously we found that applying whole genome sequencing improved the detection of cases for inherited causes, but we expect that many cases still go undetected. We want to discover if the application of long read sequencing will increase the detection of inherited cases