New Study Identifies Genes Associated with Breast Cancer Risk

Author: Gareth Evans – Professor of Medical Genetics and Member of our Scientific Advisory Board - January 29, 2021


On January 20th 2021, The New England Journal of Medicine published a very important paper titled “A Population-Based Study of Genes Previously Implicated in Breast Cancer”. This research, also known as the ‘CARRIERS’ study, is the result of the earlier European project, ‘BRIDGES’ (Breast Cancer Risk after Diagnostic Gene Sequencing).

We spoke to one of our experts, the world renowned Professor Gareth Evans, to get his thoughts on the impact of these studies:

“These two huge studies of breast cancer have confirmed genes that are linked to breast cancer beyond reasonable doubt, and also refuted a number of previous links. The ‘CARRIERS’ study from the USA tested 32,247 women with breast cancer and 32,544 without breast cancer. Whereas the ‘BRIDGES’ study led by British scientists, tested 60,466 women with breast cancer and 53,561 unaffected women predominantly from Europe. The studies tested 28 and 35 genes respectively.

Both studies unsurprisingly confirmed BRCA1, BRCA2 and PALB2 as high risk breast cancer genes (lifetime risk 40-90%), and ATM and CHEK2 as moderate risk genes (lifetime risk 20-30%). They also verified that BARD1, RAD51C and RAD51D are triple negative breast cancer genes. Additionally, it was proven that a number of genes including the Lynch syndrome genes MSH2, MLH1, PMS2, as well as a gene previously considered as a breast cancer gene from studies in Finland called NBN, can now be considered as definitely not a cause of moderate breast cancer risk.

As such, this confirms a list of BRCA1, BRCA2, PALB2, ATM, CHEK2, NF1, STK11, PTEN, CDH1, TP53, and now BARD1, RAD51D and RAD51D as breast cancer genes that can be included in gene panels. Interestingly, whilst the ‘CARRIERS’ study clearly showed the high risk of BRCA1 and BRCA2, these genes only accounted for about 1 in 50 women with breast cancer.”

You can find out more about the ‘CARRIERS’ study by clicking here.

Click here to read more about Professor Gareth Evans’ work.