A Breakthrough Breast Cancer study has found that mutations in a gene called PPM1D are linked to an increased risk of breast and ovarian cancer.

Monday 4 March 2013      Research
New gene link to breast and ovarian cancer

Women with PPM1D mutations have a 20 per cent chance of developing breast or ovarian cancer – double the breast cancer risk and more than 10 times the ovarian cancer risk of women in the general population. PPM1D is not an inherited gene and appears to work in a completely different way to other genes known to increase the risk of breast cancer, such as BRCA1 and BRCA2.

Julia Wilson, Head of Research at Breakthrough Breast Cancer, says:

“This is a really exciting discovery which will help us determine who is at increased risk of developing breast and ovarian cancer.

“Every day we understand more about the genes behind breast cancer and gain new insight into how cancer develops. PPM1D is not an inherited gene and it is unusual because it behaves differently than other genes which cause breast cancer, such as BRCA1 and BRCA2.

“More research is needed into exactly how PPM1D mutations are linked to breast cancer, but we are hopeful that one day these findings will be used in the clinic to personalise breast cancer diagnosis and treatment.

“Through fully understanding breast cancer, and the genes that cause it, we are continuing to develop new and improved ways to prevent and treat the disease. However, our vital work must continue if we want to stop women dying from breast cancer.”

This important discovery is published in the journal Nature this week and was funded by Breakthrough Breast Cancer, the ICR, the Wellcome Trust and Cancer Research UK.

The team analysed 507 genes involved in DNA repair in 1,150 women with breast or ovarian cancer, identifying PPM1D gene mutations in five women. They then sequenced the PPM1D gene in 7,781 women with breast or ovarian cancer and 5,861 people from the general population. There were 25 faults in the PPM1D gene in women with cancer and only one in the general population, a highly statistically significant difference.