Scientists shed light on inherited breast cancer
Faults in BRCA2 are a leading cause of inherited breast cancer. A normal woman has around a 12% chance of developing breast cancer throughout her life, but for women with mistakes in their BRCA1 or BRCA2 genes the risk is closer to 60%.
A study led by Dr Chris Lord and Professor Alan Ashworth from the ICR’s Breakthrough Breast Cancer Research Centre has for the first time identified the role that another gene, called APRIN, plays in the function of BRCA2.
The research shows how following damage to a cell’s DNA, for instance by sunburn or chemicals, BRCA2 joins with APRIN to repair the damage and prevent DNA mutations that can ultimately cause cancer. Mistakes in BRCA2 stop these proteins working together, leaving the DNA damaged, according to the study published in the EMBO Journal.
“Our work suggests that together with BRCA2, APRIN forms a barrier against DNA damage,” Dr Lord says. “This is significant because mistakes in BRCA2 compromise its ability to work with APRIN, which could ultimately lead to cancer developing.”
“We’ve also found a link between the expression of the APRIN gene and the aggressiveness of cancer as well as finding out that APRIN controls the way tumour cells respond to DNA-damaging chemotherapy, underscoring the importance of this gene.”
There are currently no approved targeted treatments for patients with BRCA2 gene mutations, making research in this field a matter of urgency.