Understanding the genetics of breast cancer is critical to understanding how to overcome and ultimately prevent the disease.
Up to 20% of people with breast cancer have a family history of the disease, and it is often those who inherit ‘faulty genes’ that face the most aggressive forms of the disease, often at a younger age.
By 2030, we hope all patients will benefit from individual care and treatment made possible by understanding all of the genetic variables relating to breast cancer.
Where we are now
We now know that mutations in inherited breast cancer genes, BRCA1 and BRCA2, give people up to an 85% risk of developing breast cancer and up to 50% risk of ovarian cancer. And we have greater knowledge about how other genes may influence the development and treatment of non-inherited breast cancer, as well as first evidence that epigenetic changes can indicate that someone has a higher risk of breast cancer. Genetic testing, regular screening, preventative surgery, chemoprevention and lifestyle advice are all now available.
However, we don’t know for certain which BRCA mutation carriers will develop breast cancer. We need to understand which subtle variations confer higher or lower risk, and what other factors modify this risk for each individual.
There are many genetic variations that are likely to be more common in the population than BRCA faults, but have a smaller impact on risk. Women with a combination of lots of these variations could have a high risk of breast cancer, but may not have a family history of the disease, so large studies are needed to identify these lower-risk genetic variations. To effectively use the vast amount of data being generated by genetics studies, we also need to expand our bioinformatics capacity (i.e. using statistics and computer science to analyse biological data).
So far, we have invested over £11 million in projects in this area. Among many notable achievements, our researchers have:
- Played a key role in discovering eight new genes that are involved in breast cancer: BRIP, PALB2, ATM, Caspase 8, NRG1, RASSF2, SLIT2, SLIT3. These include genes that stop mistakes occurring in our DNA and genes that block the actions of cancer-causing genes.
- Identified a gene, NRG1, which gives us vital information about a new mechanism that causes the disease.
- Discovered that certain epigenetic changes are related to different risks of developing breast cancer - read more here.
- Aim to invest £13 million in genetics and epigenetic research projects, and campaigning work over the next decade
- Address gaps in our understanding of specific functions and interactions of genetic and epigenetic changes in the normal breast and the development of cancer
- Fund research into how genes influence the outlook for younger women
- Promote the use of the latest results of ground-breaking research into new genes involved in inherited breast cancer and epigenetic research into predictive markers and tests