All over the world, the most common cancer that women suffer through is breast cancer. In 2012, about 1.7 million women had been diagnosed with breast cancer, which accounted to about 12% of all the cancer cases.
Researchers say about 5% to 10% of all the cases of this disease are hereditary, the result of mutation genes passed on from a parent.
The most widespread causes of hereditary breast cancer are mutations in the BRCA1 and BRCA 2 genes. The average chances of developing cancer with BRCA1 mutations have are 55% to 65% whereas the risk of women with BRCA2 mutation is about 45%.
There are a handful of other gene mutations that has been associated with hereditary breast cancer too such as mutations in the TP3, ATM and CHEK2 genes. Although, it is considered that till now researchers have discovered just half of the gene mutations that are connected to the development of breast cancer.
An additional one has been put in the list. Researchers from Canada, Dr. Mohammad Akbari, of University of Toronto and the Women’s College Research Institute at Women’s College Hospital and her team has now associated mutations in a gene known as RECQL with onset of breast cancer among French-Canadian and Polish women, as these women are genetically similar.
The team has employed whole-exome sequencing for analyzing about 20,000 genes amongst 195 Polish and French-Canadian patients with breast cancer with a strong hereditary, but who were free of BRCA1 and BRCA2 mutations. Both these groups had rare recurrent RECQL mutations.
The researchers have assessed the genes of 25,000 more Polish and French-Canadian women with or without breast cancer for confirming that RECQL mutations are linked to onset of breast cancer.
This information helped the team to identify specific, recurrent RECQL mutations among both populations that were associated with superior chances of breast cancer risk. They found one RECQL mutation in Polish women that was linked to a fivefold increased risk for breast cancer, in comparison to Polish women without this mutation.
In the French-Canadian women, the researchers recognized a RECQL mutation that occurred 50 times more often among those with a family history of breast cancer than those without a family history of this disease.