DENMARK – Danish researchers may have made a game-changing breakthrough in the development of an effective targeted therapy for cancer by identifying the critical role that the BRCA2 gene (BReast CAncer gene 2) plays in the deadly disease.
The study, led by experts from the University of Copenhagen, revealed previously unknown details about the BRCA2 gene, whose mutation is known to influence the development of various cancers.
The researchers believe that the study provides essential information about potential cancer risks and could aid in developing novel targeted cancer treatments for patients with a BRCA2 mutation.
The BRCA2 gene is essential for repairing the DNA of specific damaged cells, and if this DNA damage is not repaired, it can lead to cancer development.
Scientists recently discovered that a group of women with hereditary ovarian and breast cancer also have mutations in one of two genes, BRCA1 and BRCA2, with the genes and proteins they encode piqued the scientific community’s interest.
BRCA1and BRCA2 are genes that encode proteins that aid in the repair of damaged DNA. These genes serve as the codebook for how the body’s proteins are produced.
Everyone carries two copies of each of these genes, one from each parent. People who inherit harmful variants in one of these genes are more likely to develop several cancers, most notably breast and ovarian cancer and several other types of cancer.
People who have inherited a harmful BRCA1 or BRCA2 variant are also more likely to develop cancer at a younger age than those who do not have such a variant.
This is mainly so because cells that don’t have any functional BRCA1 or BRCA2 proteins can grow out of control and become cancer.
The University of Copenhagen team has identified that BRCA2 needs a specific enzyme – PP2a-B56 – to repair damage to DNA. PP2a-B56 is a type of housekeeping enzyme, meaning that it has a range of functions within the cell.
Sara Marie Ambjørn, a Postdoc at the University of Copenhagen, said: “We found that there is an interaction between BRCA2 and the enzyme which is key to the cell’s ability to repair DNA damage.”
“At the same time, we can see that mutations that impair this interaction reduce the ability to repair DNA damage. We made this discovery by studying a part of BRCA2 that no one has previously looked at,” she noted.
The researchers investigated this discovery by introducing various mutated forms of BRCA2 into human cells and examining their ability to aid in DNA repair.
They discovered that if they mutated BRCA2 so that its interaction with the enzyme was disrupted, the cells could no longer repair damaged DNA.
Several previous studies have suggested that the enzyme plays a role in DNA repair; however, this is the first to show how it works.
This ground-breaking research could pave the way for future targeted therapies for cancer patients with a specific set of mutations, significantly improving disease treatment.