Recently conducted studies have brought to light an alarming fact: A number of single gene polymorphisms (SNPs, e.g.: thousands) could indicate an elevated risk of developing aggressive forms of breast or ovarian cancer. This is a very important finding which may initiate a paradigm shift in terms of the cancer prevention and treatment approaches.
Decoding the ‘Cancer Shielding’ Gene
Another team of researchers from Wellcome Sanger Institute has described a previously unknown feature of RAD51C that is vital for DNA repair. They have shown that more than 3000 gene variants in this gene could otherwise be conducive for the development of breast and ovarian cancers.
The facility of ‘saturation genome editing’ was utilized by the team to analyze the function of RAD51C protein for further understanding the significance of these changes at regulation. These findings suggest that such cancer-predisposing variants can potentially compromise the gene’s function of tumor suppression, increasing breast cancer risk by 4 times and ovariancancer risk by 6 times.
In addition, the surface structures of RAD51C that are important for its localization and functioning as a DNA Repair protein have been studied and mapped. Such information may assist in targeting therapeutics that seek to restore the anti-cancer properties of RAD51C.
Breaking Down the Cancer Risk Spectrum
Significantly, RAD51C variants do not represent a simple ‘either yes or no’ scenario in terms of the cancer risk they carry. Rather, there is a scale of risk factors where some variants are more disruptive to the normal functioning of that gene than others.
Further within this spectrum, the researchers also found an even lesser variant called ‘hypomorphic alleles’ which is a compromised but non-absent activity of the RAD51C. These less severe variants may not be as rare as previously believed yet still account for a considerable amount of risk for breast and ovarian cancer for any individual.
This reliativity of risk is a case for using multi-site genetic studies and the need to look into cancer from more than one dimension and that is particularly important for cancer prevention and management. Identification of the facets that determine the degree to which a patient will be exposed to the disease enables the harnessing of strategies that tackle the problem more efficiently.
Conclusion
This remarkable study will change the way cancer is prevented and treated. Based on the analysis of the RAD51C gene’s sequence and structure, scientists came across novel and crucial information that would help target populations that are genetically predisposed to aggressive forms of breast and ovarian cancer. With this information, health practitioners would be able to make more accurate estimates of people’s risks, recommend appropriate means for screening and prevention, as well as advance into novel treatments. With further studies geared towards understanding the various genes that promote the advancement of cancer, this study favors a time when we shall be able to prevent the disease rather than struggle with it.
