Approximately 10% of cancer deaths in women in Westernised countries are due to gynaecological malignancy. Cancer results from the accumulation of multiple genetic alterations. Some alterations occur in the germline and increase susceptibility to disease during an individual's lifetime. Such alterations often manifest themselves as a clustering of cancer cases within families. However, these are relatively rare. Most genetic changes are spontaneous, occurring in somatic cells, and are associated with a progressive tumour development. It is likely that the compliment of genetic changes that initiate and accumulate during tumour formation influence clinical features of disease including histopathological subtypes, response to therapy and, ultimately, patient survival. It is hoped that a greater understanding of the underlying genetic basis of tumourgenesis will lead to better risk prediction for individuals with susceptibility to cancer, an improved ability to detect cancer at an earlier, more treatable stage and to the identification of novel therapeutic targets. Many of these goals are dependent on the continuing progress of biotechnology to develop high throughput methods for the rapid analysis and characterisation of blood and tumour tissue specimens for implementation in routine clinical diagnostic procedures.