New Breast Cancer Gene Discovered

The BRCA mutations, which were first discovered in the mid-90s, are known as the most common cause of hereditary breast cancer. Yet there are other mutations that can also drastically increase risk, including those found in the ATM, CHEK2 and TP53 genes.

As researchers learn more about the genetic ties to breast cancer, they believe that they have just scratched the surface concerning gene mutations that are associated with breast cancer development.

A new study published in the journal Nature Genetics has linked mutations in a gene known as RECQL with onset of breast cancer among Polish and French-Canadian women. Furthermore, these statistics suggest that about 50 percent of women with the RECQL mutation will develop breast cancer.

"Our work is an exciting step in identifying all of the relevant genes that are associated with inherited breast cancer," said lead researcher Dr. Mohammad Akbari, who is also an assistant professor with the Dalla Lana School of Public Health at the University of Toronto, in a news release.

In the study, researchers examined 20,000 different genes among 195 breast cancer patients with strong family histories of breast cancer who did not have a mutation in BRCA1 or BRCA2. The participants also consisted of two main groups: a Polish group and a French-Canadian group. Researchers also looked at an additional 25,000 more patients and unaffected individuals from the two populations, finding that the RECQL mutations showed a 5-fold increased risk for breast cancer development when compared to those without the mutation.

Based on their findings, the researchers concluded that RECQL is a breast cancer susceptibility gene with a plan mapped out to search for the mutation in women from other populations, as well.