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  • Research home > Beat Cancer Project search > Using familial haematological malignancies and germline variants to identify new haematopoietic and pan-cancer genes

    Using familial haematological malignancies and germline variants to identify new haematopoietic and pan-cancer genes

    Professor Hamish Scott
    • Donor Funding: $75,000
    • Cancer Type: Blood cancers
    • Cancer Stage: Cancer Stage
    • Funded in: 2017
    • Professor Hamish Scott
      University of South Australia and Centre for Cancer Biology, SA Pathology

    Our research

    The genetic cause of predisposition to certain types of blood cancers (lymphoid) is largely unknown despite numerous studies. We will use state-of-the-art technologies to screen for the predisposition genes in families with lymphoid cancers (e.g. Hodgkin Lymphoma (HL), Non-Hodgkin Lymphoma (NHL), acute lymphoblastic leukaemia (ALL) and chronic lymphocytic leukaemia (CLL)). We will also screen for genetic changes in non-familial cases in a poorly studied type of NHL (Follicular Lymphoma) to help understand what drives these cancers. Functional studies will be performed on our current top candidate predisposing gene, DDX11, which has been found mutated in several HL, NHL and CLL families. We will generate the DDX11 mutations identified in these families, and attempt to identify how they lead to the development of lymphoma.

    Cancers are usually generated by environmental and genetic factors. Understanding the genetic causes which cannot be changed may give us insights into the processes that are critical in development of cancers such as lymphoid leukaemias and lymphomas which are poorly understood.

    What we aim to achieve

    Identifying causal genes offers opportunities for targeting drugs specifically at these aberrant genes or pathways in which they are involved, offering new often non-obvious options for treatments

    Our next steps and milestones

    A comprehensive understanding of the genetic causes (“drivers”) of blood cancers is crucial in offering personalised medicine to individuals or families

    What motivates you to pursue cancer research?

    Offering hope to cancer sufferers is the main driver. Initially this may be in the form of a sure diagnosis or prognosis, but ultimately in the form of well-informed treatments with fewer side-effects based on the genetic drivers of the disease. In familial cases, knowing the predisposing genetic change can be used in genetic screening for carriers, and development of lifestyle or surveillance strategies to prevent disease or identify early.

    My message to supporters

    This funding will help establish genetic causes of familial cases of lymphoid cancers and Follicular Lymphoma as well as provide insights into sporadic cases. Understanding the causes offers opportunities of personalised medicine to target the aberrant gene or its pathway.

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