Epigenetic Silencing of BRCA2 & PALB2

About our Gene Research Projects

Our gene researchers study how our genes (which are made up of DNA) influence our chances of getting breast cancer. We hope that by funding this research Prevent Breast Cancer can improve the NHS Breast Cancer Screening Service for the disease by telling women their risk of getting breast cancer based on their genetic code, reassuring at-risk relatives and creating a starting point for developing more personalised breast cancer treatment.

About Epigenetic Silencing of BRCA2 & PALB2

Unfortunately, many people with inherited breast cancer do not have an exact explanation for their diagnosis. Family members with genetic mutations in their BRCA1, BRCA2 or PALB2 genes are more likely to:

  • develop breast cancer at a young age
  • develop a more aggressive form of breast cancer
  • have cancer in both breasts
  • develop additional cancers such as ovarian and pancreatic
  • find that many people in their family develop breast cancer, including men

However often when many of these women opt for gene testing, the test comes back negative. This means that there may be other important genetic markers that current tests are not picking up.

Our researchers have recently found a new biological mechanism called “epigenetic silencing” that stops the gene BRCA1 from working in some individuals, causing the familial breast cancer symptoms listed on the previous page. What if this is also the case for BRCA2 and PALB2?

It is vitally important we answer this question because if there is a fault with these genes that current tests are not picking up, these people may miss out on effective measures to reduce their risk of breast cancer such as additional screenings or preventative surgery. They might also miss out on the most effective treatments if they do develop breast cancer.

For more information about this study please click here or download the information on the right hand side of this page.

To donate to projects such as this one, please click here and pick Gene Research from the list of drop down options.