Pin-Pointing Cancer-Causing Mutations on a New Breast Cancer Gene

Start Year: 2019
Finish Year: 2022
Chief Investigator: Dr Rohan Bythell-Douglas
Institution: St Vincent’s Institute of Medical Research

Breast cancer caused by inherited predisposition makes up about 10% of cases. It occurs at younger ages and is usually triple negative breast cancer (TNBC), one of the most difficult to treat. Thanks to high profile stories from celebrities with genetic predisposition like Angelina Jolie, there is widespread understanding of the link between the BRCA1 and BRCA2 genes and breast cancer. Recently, a new gene has been identified as a risk factor for inherited breast cancer, called the FANCM gene. A lot less is known about this gene.

In a new study funded by NBCF, Dr Rohan Bythell-Douglas will bring expertise in a breakthrough imaging technique to Australia to learn more about the FANCM gene. This technique, called cryo-electron microscopy, will provide very detailed molecular information on the variants of the FANCM gene.

Dr Bythell-Douglas and his team will use this information to investigate why the FANCM gene mutations predispose women to breast cancer. This project will likely lead to the introduction of FANCM genetic testing in clinics. This will help to boost the quality of information for women who are interested in their genetic risk.  In addition, the findings may help to direct future treatment options for women with inherited breast cancer.