Identification and validation of breast cancer predisposition genes

Start Year: 2013
Finish Year: 2015
Chief Investigator: Dr Ella Thompson
Grant Type: Postdoctoral Fellowship
Institution: University of Melbourne

Postdoctoral Training Fellowship

While inherited faults in two genes, BRCA1 and BRCA2, are known to be important in the development of hereditary breast cancer, the genetic cause of most familial breast cancer is not known.

The aim of this study is to identify other genes that cause a predisposition to breast cancer in families affected by the disease.

The research will analyse the genetics of 125 high-risk breast cancer families as well as examine about 3000 BRCA1/2 mutation-negative familial breast cancer cases and 3000 controls to determine the contribution of rare, harmful genetic mutations to breast cancer risk. Identification of new genes that predispose to the development of breast cancer will improve risk assessment, genetic counselling and management for individuals in high-risk breast cancer families.