The Sixth International Symposium on
Hereditary Breast and Ovarian Cancer
The second poster discussed COMPLEXO, an international collaboration that has been running since 2012 and involves more than 50 researchers from 40 institutions applying massively parallel sequencing. More than 1000 exomes are held in the current data bank. Such extensive global collaboration increases the likelihood that genetic variants associated with disease risk will be identified.
The symposium is held every two years, is delivered in two languages, and has a strong focus on training for clinical trainees and includes a large involvement from the community. The public can attend, and as they can ask very challenging questions, this ensures the researchers do not lose sight of the relevance of their work.
The symposium was developed to present to clinicians and researchers the most recent information on hereditary breast and ovarian cancer, including the latest developments in the genetics and molecular science of hereditary breast and ovarian cancer; the early diagnostic strategies available for individuals at risk of hereditary breast cancer; as well as a discussion of the ethical issues surrounding panel testing for breast and ovarian cancer risk.
Attendees are from a variety of professional backgrounds, including doctors, genetic counsellors, researchers and students, and cultural backgrounds, including Canada, the US, Europe, Asia, Australasia and the Americas.
The work of Professor Melissa Southey and her Genetic Epidemiology Laboratory was recognised at the 2016 BRCA Congress, the sixth International Symposium on Hereditary Breast and Ovarian Cancer, which was held in Montreal. Professor Southey gave an oral presentation on heritable epimutations associated with breast cancer, while GEL presented two posters: the first on the role of RNASEL in breast cancer, and the other discussing the success of the COMPLEXO collaboration.
Professor Southey discussed how her study had screened almost half a million methylation sites involving 25 families with multiple cases of breast cancer that did not have mutations in any known breast cancer-associated gene. Using a novel statistical method developed by Dr James Dowty, the team identified 11 methylation sites that might contain heritable epimutations.
The first poster, whose first author was Tu Nguyen-Dumont, discussed whether RNASEL was a modifier of breast cancer risk in BRCA1 and BRCA2 carriers. Targeted sequencing was performed on 571 women at high risk of carrying a genetic predispostion to breast cancer, and on 684 women not known to carry mutations in BRCA1 or BRCA2. The study concluded that RNASEL performed a modifying role.