Leukaemia is not usually a hereditary disease but inherited genetic mutations predisposing to leukaemia have been identified. Dr Fitzgibbon is taking advantage of new technology to identify inherited mutations in family groups where there are multiple cases of familial leukaemia. This will in future allow routine testing in families where a familial factor is suspected.

Project Details

  • Project Title

    The genetics of familial leukaemia

  • Lead Researcher

    Dr Jude Fitzgibbon

  • Research Centre

    Queen Mary University of London

  • City & Institution Postcode

    London, E1 4NS

  • Start Date

    1 February 2012

  • Duration

    2 years

  • Grant Amount


scientist hands


Dr Fitzgibbon’s research group was the first to report abnormalities in a gene called CEBPA in a family with three members affected by acute myeloid leukaemia (AML). The group has subsequently acted as a repository for suspected cases of familial leukaemia and has reported inherited mutations in two other genes, RUNX1 and GATA2. The project team will use new technology to help identify inherited mutations in families where no such mutations have so far been detected. This will allow them to define a core series of genes for routine testing in families where a familial factor is suspected.


Around 70 children are diagnosed with acute myeloid leukaemia (AML) every year in the UK. AML is not usually a hereditary disease. For most patients with AML, their family members have no higher risk than anyone else. However reports have been published of multiple cases of AML developing in some families at a rate higher than predicted by chance alone. New technology – known as high throughput genome sequencing – enables rapid analysis of our genetic sequence and allows the identification of abnormalities, or ‘mutations’, in the genetic make-up of individuals. Dr Fitzgibbon and colleagues are making use of this technology to answer specific questions about the genetics of leukaemia. In 2004 they were the first to report mutations in a gene called CEBPA in a family with AML. Since then they have created a repository of rare familial cases of AML and a related disease called myelodysplasia (MDS). They have also now reported inherited mutations in two further genes – RUNX1 and GATA2.

Understanding familial leukaemia

The proposed study of familial leukaemia will greatly add to the knowledge of the development of childhood leukaemia. The applicant and the study has already attracted potential families from around Europe.Dr Fitzgibbon has assembled a group of clinicians and scientists to address the outstanding questions that exist in this area of familial AML/MDS. The team has access to more than 10 family groups where mutations in CEBPA and RUNX1 have already been excluded. They will first screen for GATA2 and in those where GATA2 is excluded they will use high throughput sequencing to identify other mutations. They will then attempt to determine whether the identified genes are also mutated in non-familial cases of AML and MDS. Of the three genes already linked to familial AML and MDS, GATA2 is the only one that is not mutated in non-familial disease. The final part of the project is to define guidelines for genetic testing and management of suspected familial AML and MDS. This will be done in collaboration with an international working group of clinicians and scientists working in the field and will be based on an extensive review and analysis of the evidence accumulated to date by research groups around the world.

What difference will this project make?

This work should contribute significantly to knowledge of familial leukaemias. The work will allow the project team to define a core series of genes for routine testing in families where a familial factor is suspected and will support initiatives for the development of guidelines for genetic testing and management of families with this disease. * Note re cost: the bulk of this work is being funded via a Clinical Research Fellowship grant from Cancer Research UK; we have provided ‘top-up’ funding to cover the cost of some of the research consumables. Acute myeloid leukaemia

About the Research Team

Dr Jude Fitzgibbon, Dr Matthew Smith, Dr David Taussig, Dr Jamie Cavenagh & Dr Claude Chelala, Dr Elia Stupka, Queen Mary University London/ Barts Cancer Institute; Dr Alison Male, Great Ormond Street Hospital for Children; Dr Carolyn Owen, University of Calgary.
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