The Identification of Genes Underlying a Familial Susceptibility to Blood Cancers

Haematological malignancies (blood cancers) are a relatively common form of cancer and have enjoyed a remarkable degree of therapeutic success over the past 40 years. However they still kill many patients every year and current treatments are associated with considerable risks. Many of these cancers have a genetic basis to them that can be inherited from one generation to the next. This can cause these cancers to be more common in some families than others.

We are trying to identify some of these inherited risk genes using large families from Tasmania. We have identified certain families where there is an increase in incidence of blood cancers. This may be limited to a small number of different types of tumour but in many families there is a general increase in the incidence of many blood cancers. We propose this is due to a genetic predisposition that affects early haematopoietic stem cells that can subsequently give rise to malignancies in any blood cell type.

The families we have found are very large. Some of them have hundreds, if not thousands of individuals, all descended from common, early immigrants to Tasmania. This gives two major advantages. Firstly, if there is a genetic determinant then we can isolate the location using classical genetic mapping. This work is ongoing in the laboratory and is the major focus of this project. However the presence of such large families in Tasmania provides a second distinct advantage. Many of these genes will contain a rare genetic alteration, or polymorphism that is associated with an increased risk of developing the cancer, however presence of this genetic alteration will not always result in disease. These sorts of genetic changes are very difficult to identify and are likely to be quite common in cancers. Having large pedigrees means that even if only a small number of people carrying the genetic change get cancer, given the size of these families, we would expect to see several cancers due to a common mutation.

In this project we use classical genetic mapping, PCR, statistics, high-throughput genotyping, DNA sequencing, mutation detection, cell culture and microarrays.

This project is a participant based study

Research Groups

Related Diseases


Senior Members

  • Professor Simon Foote


Team Members

External Collaborators

  • Dr Melanie Bahlo - Walter and Eliza Hall Institute