Landmark WA gene hunt could save thousands of people at high-risk of cancer

TRACEBACK aims to reduce the incidence of BRCA1/2-related cancers in Australia via identifying woman with a history of ovarian cancer that missed the opportunity for testing.

About 15% of all women with the most common types of ovarian cancer in Australia carry the BRCA1/2 gene change which can be passed on to family members. Importantly, if people that have these gene changes are aware, they can choose to undertake strategies to reduce their risk of developing cancer significantly.  Certain new drugs also work more effectively in women with BRCA1/2, and therefore results also have important treatment implications for woman with ovarian cancer.

It is estimated that 12,000 women have been diagnosed with ovarian cancer in the last 15 years, but not tested. TRACEBACK, which will commence in early 2018 will test about 1500 of these patients, focusing on deceased women who missed the opportunity for testing. Patients will include those a) already enrolled on previous research studies involving genetic risk, b) referral through relatives, and c) through working with clinicians in specialist centres. 

A family member will not be told of results directly but rather asked if they wish to learn more and if so, will be guided to centres that can provide this information and guide them through the processes of being tested themselves if needed. In addition, TRACEBACK may assist woman with a personal history of ovarian cancer to access testing.

TRACEBACK will be testing for BRCA1/2 mutations and other ovarian cancer susceptibility genes including RAD51C/D, BRIP1 and mismatch repair genes, and a number of low risk genes.  Findings may relate to any of these mutations. 

Source: The West Australian: https://thewest.com.au/news/health/landmark-wa-gene-hunt-could-save-thousands-of-people-at-high-risk-of-cancer-ng-b88744572z

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