Traceback: Finding BRCA1 and BRCA2

Finding BRCA1 and BRCA2 mutations in women with ovarian cancer

Women with inherited mutations in the BRCA1 or BRCA2 (BRCA1/2) genes are at significantly increased lifetime risk of breast and ovarian cancer1.

Seventeen per cent of ovarian cancer (OC) patients carry mutations in BRCA1/BRCA22 and testing provides a cost effective and efficient mechanism to detect mutations in unaffected relatives.

If these relatives also test positive, they can choose to partake in risk-reducing strategies including preventative surgery to remove both breasts and fallopian tubes and ovaries3.

Australian guidelines recommending BRCA1/2 testing for patients diagnosed with non-mucinous epithelial OC have been in place since 2013 but historically less than 50 per cent of eligible patients were referred for testing4.

More than 11,000 ovarian cancer patients in Australia over the last 15 years were not tested4. Many of these patients will have since died of their disease and their family members therefore remain in the community unknowingly at risk, yet there aren’t any current means to find or test them.

Our project

Our project, TRACEBACK, aims to reduce the number of BRCA1/2 related cancers in Australia by identifying undiagnosed germline BRCA1/2 mutations in OC patients that would otherwise be missed, and then returning findings to family to facilitate cascade testing5.

Participants are recruited by three methods including current cohort studies, self-referral, and a national, clinic-based outreach program.

Living women are referred to a Familial Cancer Centre (FCC) and for deceased women, sequencing is performed on DNA from blood or formalin fixed paraffin embedded (FFPE) tissue assessing ten genes of interest and additional potential cancer susceptibility genes.

The study is piloting a process of returning results to surviving next of kin, with encouragement to seek predictive testing at an FCC.

The project is being led in Western Australia by Clinical Senior Lecturer at UWA’s Medical School, Dr Paul Cohen, who is collaborating with Professor David Bowtell and Dr Rachel Delahunty at the Peter MacCallum Cancer Centre in Melbourne, who are leading TRACEBACK nationally.

To date, nearly $3 million in funding has been awarded to our project by the Australian Department of Health, under the Public Health and Chronic Disease Grants Program.


Contact Dr Paul Cohen

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