How and why breast cancer develops
Our research to identify the genes that cause breast cancer is giving us new insights into the disease and is helping us to find better ways to prevent, diagnose and treat it.
- In 1993, we led research showing that the inherited breast cancer susceptibility gene, BRCA1, was responsible for the vast majority of families with multiple cases of breast and ovarian cancer.
- In 1995, Cancer Research UK-funded scientists led the world in discovering the breast cancer susceptibility gene BRCA2. The gene is associated with a substantially increased risk of breast cancer, as well as an increased risk of ovarian and prostate cancer.
Our research into the genes involved in breast cancer has paved the way for the development of the genetic tests available today. These tests allow doctors to identify women at high risk of breast cancer, and give them help and guidance on what they can do to reduce their risk, including having regular screenings.
- In 2003, we discovered that inheriting a damaged version of a gene called CHEK2 nearly doubles a woman's risk of developing breast cancer.
- Also in 2003, our scientists discovered a new gene linked to breast and ovarian cancer. The gene, called EMSY, is key to understanding how and why these cancers develop and the discovery may pave the way for new treatments.
- In 2005, researchers in Cambridge homed in on four new genes involved in the development and progression of breast cancer.
- In 2006, Cancer Research UK-funded scientists at The Institute of Cancer Research found two new gene involved in breast cancer, called BRIP1 and PALB2.
- In 2007, as part of an international collaboration, scientists in Cambridge used a ground-breaking research technique to discover five regions of our DNA that harbour new breast cancer genes. More recently, they discovered that variations of two of these genes can amplify risk in women with a faulty BRCA2 gene. Discoveries like these will help identify individuals who are at increased risk and could lead to new ways of preventing, diagnosing and treating breast cancer in the future.
Where to find out more
Visit our patient information site for more detailed information about breast cancer. You can also talk about your experiences and get support from other people affected by cancer in our new online forum, Cancer chat.
You can also listen to our special edition breast cancer podcast for latest news from our scientists and cancer information nurses as well as a breast cancer survivor.


