TRACEBACK: Finding BRCA1 and BRCA2 Mutations in Women with Ovarian Cancer Diagnosed Prior to Changes to Genetic Testing Guidelines

Rachel Delahunty, Penny Webb, Georgia Chenevix-Trench, Angela Rutherford, Paul Cohen, Mary-Anne Young, Michael Friedlander, Laura Forrest, Paul James, David Bowtell

Research output: Contribution to journalAbstract/Meeting Abstractpeer-review


Background Women with deleterious germline BRCA1/2 mutations are at increased lifetime risk of breast and ovarian cancer (oc)1. Population-based studies indicate an incidence of pathogenic germline mutations of 14%–17%2. Testing provides a cost-effective and efficient mechanism to detect mutations in unaffected relatives for whom effective risk-reducing strategies are available3.
Australian guidelines were revised in 2013 recommending BRCA1/2 testing for patients diagnosed w ith non-mucinous epithelia l oc. Historically fewer than 50% of eligible patients were referred for testing4. We estimate that, over the last 15 years, more than 11,000 oc patients in Australia were not tested. Many of those patients will since have died of their disease, and their family members could unknowingly be at risk, with no current systematic process for them to be found or tested.
traceback aims to reduce the number of BRCA1/2-related cancers in Australia by identifying undiagnosed germline BRCA1/2 and other pathway-related pathogenic mutations in oc patients that have been missed, and then returning findings to family members to facilitate cascade testing. Methods Participants are recruited by 3 methods: cancer cohort studies, self-referral, and clinic-based outreach. Living women are referred to a familial cancer centre (fcc). For deceased women, targeted sequencing is performed on dna from blood or formalin-fixed paraffin-embedded tissue, assessing 9 genes of interest, including BRCA1/2. We are now piloting all aspects in conjunction with patient advocacy groups, researchers with large patient cohort collections, and fccs.
Conclusions Although conceptually simple, the study is logistically and ethically challenging. traceback will allow unaffected carriers of germline BRCA1/2 mutations and additional oc susceptibility genes the opportunity to adopt risk-reducing strategies. The study will establish methodology and experience returning unanticipated genetic information to individuals, which is likely to be relevant to other cancers and inherited disorders.
Original languageEnglish
Article numberP100
Pages (from-to)e252-e252
Number of pages1
JournalCurrent Oncology
Issue number3
Publication statusPublished - Jun 2018
EventSeventh International Symposium on Hereditary Breast and Ovarian Cancer: BRCA: From the Personal to the Population - Montreal, Canada
Duration: 8 May 201811 May 2018


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