Rare genetic mutations linked to breast cancer


Rare genetic mutations linked to breast cancer

Researchers have found that mutations in the PALB2 and ATM genes increase the risk of breast cancer.

The researchers from the University of Melbourne and Cancer Council Victoria found the risk of developing breast cancer from these relatively rare genetic changes is similar to that from the more common BRCA 1 and 2 mutations.

The international collaboration examined genetic mutations in almost 200,000 participants in breast, ovarian and prostate cancer studies carried out across four continents.

Previous studies revealed the PALB2 and ATM genes to be implicated in breast cancer, but until now, geneticists have not been clear on how to interpret the risk. Mutations in a third gene, CHEK2, were found to cause a moderate risk of breast cancer.

Published in the Journal of Medical Genetics, the findings will lead to new genetic screening, counselling and clinical guidelines.

Read more about the research here.