A landmark study has uncovered almost all the genetic errors that cause healthy breast tissue to turn cancerous. The research detected five new genes associated with the disease and 13 new mutational signatures that influence tumour development.
Experts say it could help unlock new ways of treating and preventing the disease. It found that breast cancer tumours are caused by unique mutations in a person’s genes. Even women who have cancer gene mutation had whole cancer genome profiles that were highly distinctive from each other.
The breakthrough could lead to personalized treatments by identifying which mutations are present. Actress Angelina Jolie went public in 2013 about her double mastectomy and having both ovaries removed after finding out she carried the BRCA1 mutation, which is associated with an increased risk of breast and ovarian cancer.
Breast cancer is the most common type of cancer in most parts of the world with close 2m women diagnosed with invasive breast cancer in 2011.
Cambridge-based Wellcome Trust Sanger Institute revealed the different genetic variations exist in breast cancers and where it is they occur in the genome.
They analyzed the breast cancer genomes of 556 women and four men from across the globe.
They found that the women who carry the BRCA1 or BRCA2 gene had whole cancer genome profiles that were highly distinctive from each other and were also very different to other breast cancers.
This discovery could be used to classify patients more accurately for treatment. Dr Serena Nik-Zainal said: “In the future, we’d like to be able to profile individual cancer genomes so that we can identify the treatment most likely to be successful for a woman or man that has been diagnosed with breast cancer.”
