FANC Gene Mutations In Acute Myeloid Leukaemia Biology And Treatment
Funder
National Health and Medical Research Council
Funding Amount
$900,780.00
Summary
We have found mutations in DNA repair genes in AML patients, and associated the presence of these with increased risk of developing AML. Our hypothesis is that the presence of these mutations leads to reduced efficiency of DNA repair, and increased risk of additional mutations and leukaemic transformation. Our aim is therefore to determine the changes associated with these mutations in blood cell precursors, and to investigate the potential of targeted therapies for this group of patients.
Defining The Leukaemogenic Mechanism For GATA2 T354M, A New Predisposing Mutation In Familial MDS/AML
Funder
National Health and Medical Research Council
Funding Amount
$631,883.00
Summary
A successful approach for identification of cancer genes has been to study the 5-10% of cases occurring in families with inherited predisposition to develop cancer. Unlike solid tumours, few cancer-causing mutations are known for haematological cancers. We have found a new mutation in 3 families in a gene (GATA2) not previously associated with familial acute myeloid leukaemia. We will explore how this mutation causes leukaemia to help better understand the more common non-inherited leukaemias.