RECQL New Gene That Strongly Linked to Breast Cancer

In a recent research presented in Nature Genetics, scientists have discovered mutations in a gene that they say are strongly connected to the growth of breast cancer.

Globally, breast cancer is the very frequent cancer in women. In 2012, nearly 1.7 million women were clinically diagnosed with the condition, accounting for about 12% of all new cancer cases.

It is approximated that about 5-10% of all breast cancer cases are hereditary, causing from mutations in genes transferred down from a parent.

Mutations in the BRCA1 and BRCA2 genes are the very frequent causes of hereditary breast cancer. Females with BRCA1 mutations have an average 50-65% possibility of developing the condition, while the average possibility of breast cancer among females with BRCA2 mutations is about 45%.

A number of other gene mutations have been connected with hereditary breast cancer, which includes mutations in the ATM, CHEK2 and TP53 genes. On the other hand, it is thought that to date, scientists have only identified half of the gene mutations connected with breast cancer development.

Now, it is achievable one more one can be included to the list. Dr. Mohammad Akbari and colleagues have linked mutations in a gene known as RECQL with onset of breast cancer among Polish and French-Canadian females.

Half of females with RECQL mutation will develop breast cancer

To achieve their results, the team applied whole-exome sequencing to evaluate about 20,000 genes among 195 Polish or French-Canadian sufferers with breast cancer who had a strong family history of the condition but who were totally free of BRCA1 and BRCA2 mutations.

The investigators say they select Polish and French-Canadian women for the research because they are quite similar genetically.

In both of these communities, the scientists recognized rare repeated RECQL mutations.

To be able to ensure that RECQL mutations are connected to onset of breast cancer, the scientists evaluated the genes of an additional 25,000 French-Canadian and Polish females with or without breast cancer.

From this, the team determined particular, repeated RECQL mutations among both communities that were connected with higher breast cancer risk. For instance, they discovered one RECQL mutation in Polish women that was connected to a fivefold enhanced threat for breast cancer, in comparison with Polish women without this mutation.

In the French-Canadian females, the scientists discovered a RECQL mutation that took place 50 times more frequently among those with a family history of breast cancer than those without.

The scientists note that even though these RECQL mutations look to be unusual, the risk of breast cancer among females who have them seems to be to be very high. In their research, they calculated that about 50% of women with a RECQL mutation would develop breast cancer.

Depending on their results, the investigators conclude that RECQL is a breast cancer vulnerability gene. Dr. Akbari adds:

“This research showed that examining particular founder populations like Polish and French-Canadian women is a great method for identifying disease-associated genes.

Our work is an interesting step in determining all of the appropriate genes that are connected with inherited breast cancer.”

Next, the team plans to look for for the existence of RECQL mutations among females from other populations.

At the same time, Dr. Akbari says he supports testing for genetic mutations among women with breast cancer, as determining such mutations could help treatment for the condition.

“In the foreseeable future, we might be capable to select or develop therapies that can work around or correct appropriate genetic mutations that are connected to breast cancer,” he adds. “This opens up the door for new and superior ways of approaching breast cancer treatments.”