BRCA2 gene requires a specific enzyme, PP2A-B56, to be able to repair DNA damage, said University of Copenhagen researchers. The enzyme is a so-called household enzyme, a term used for the enzymes that have many different functions in the cell. Several years ago, it was discovered that a group of women with hereditary breast and ovarian cancer also have mutations in one of two genes, namely BRCA1 and BRCA2. Ever since, the genes and the proteins they encode have attracted great scientific attention.
‘The researchers hope that the study may provide important information about potential cancer risk and more targeted treatment for cancer patients who have a mutation in this part of BRCA2.
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Genes may be seen as a codebook for the way in which the cell’s building blocks – its proteins – should be produced. If you inherit a mutation in a gene, there is an error in the codebook, leading to an error in the protein. This could potentially disrupt the function of the protein and damage the cell. Today we know that the protein BRCA2 – which the gene and namesake BRCA2 is encoding – plays a key role in the repair of certain types of DNA damage in cells. And if DNA damage is not repaired, it can lead to cancer.
"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," says Postdoc Sara Marie Ambjørn.
"We have tested mutations found in cancer patients that affect the interaction between the enzyme and BRCA2, and we can see that they affect the cells’ response to a substance used in chemotherapy," she says.
Targeted treatment in the future
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There are a number of studies that have hinted at a role of the enzyme in connection with repair of DNA damage. However, this study from the University of Copenhagen is the first to directly document how it happens.
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The result can pave the way for cancer patients with a particular group of mutations to receive a more targeted treatment in the future.
Source-Eurekalert