Project details

Researcher: Professor Ellen Solomon

Location: King's College London

Project title: Understanding how different BRCA1 gene mutations affect breast cancer risk and growth

Key area: Risk and prevention

The challenge

Women who inherit a mutation (fault) in the BRCA1 gene can have up to an 85% risk of getting breast cancer in their lifetime.

Many different faulty versions of the BRCA1 gene exist and for some of these versions we don’t know how, or whether, the fault leads to breast cancer – these mutations are known in the clinic as “variants of unknown significance”.

Currently, if someone has a BRCA1 mutation that is a variant of unknown significance, we cannot say whether they have an increased risk of the disease.

The science behind the project

To better understand some of these variants of unknown significance, Prof Solomon’s team will collect breast cancer samples from women with a range of different BRCA1 mutations of unknown significance who are having surgery to remove their cancer.

Using cutting-edge technology the researchers will reprogramme these cancer cells to act like stem cells, and then see if these stem cells can be used to understand why, or whether, the BRCA1 mutations present in the cells lead to cancer through various tests in the lab, including growing the cells in mice.

What difference will this project make?

Understanding BRCA1 mutations of unknown significance will allow us to better predict the risk of women who have these mutations getting cancer in the future.

The knowledge from this project could also help us to develop drugs that target the way in which these mutations cause cancer to grow. This would mean that people with these mutations who do develop cancer in the future could have personalised, effective treatment options.

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