In 2020 Dr Na Li received a post-doctoral fellowship funded by you, so she could work on her project discovering new genetic causes of familial breast cancer.
What is your project trying to achieve?
This project aims to identify new genetic causes of breast cancer from the BEACCON study, one of the largest sequencing datasets in the world.
What have you discovered?
My research team and I have discovered numerous new genes that are likely to contribute to inherited risk of breast cancer. I have also demonstrated through detailed molecular analyses and an international collaboration involving more than 45,000 subjects that NTHL1, one of the new candidate genes, does indeed associate with increased risk of breast cancer.
The insights obtained about hereditary breast cancer through the BEACCON study will be of significant strategic value to the hereditary breast and ovarian cancer research community.
Dr Na Li and her team pictured before COVID-19
Where do you see your research going next?
After working on the unique data I generated from the BEACCON study, I have developed some new ideas on other mechanisms that could explain the causes of some unexplained breast cancer families.
My hypothesis is that a substantial and clinically important component of unexplained inherited risk of breast cancer may be due to alternative inactivation mechanisms in known breast cancer susceptibility genes. I will work on discovering pathogenic variants in this underexplored research area and evaluate the contribution of alternative mechanisms in familial breast cancers.
What is your ultimate goal?
Ultimately, I want to map the complete landscape of inherited risk of breast cancer and to provide each woman with a precise and personalised interpretation of their breast cancer risk.
Dr Na Li and her team continued working throughout the pandemic with COVID-safe measures in place.
“Receiving funding is not only recognising and rewarding my work in search for new breast cancer genes, it also provides me with a stepstone for my career.
"More importantly I can follow up on the remaining candidate genes and variants to evaluate their role in breast cancer and explore improved patient outcomes.”