BRCA Only Explains a Fraction of Breast Cancers

November 21, 2024

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A new study analyzed the genomes from a dozen families with high rates of breast cancer to identify a total of 80 genes that may increase the risk of developing breast cancer (Cooke, 2024). While most cases of breast cancer do not have a genetic link, of those that do (approximately 5-10%), 30% will carry mutations in their BRCA genes (Cooke, 2024).

Previous large-scale genetic testing focused mainly on women of European ancestry, which overlooked gene variants that occurred in ethnic groups that were not part of these studies (Cooke, 2024). The families in this study were ethnically diverse and included both women with a cancer diagnosis and women without one.

Eight of the gene variants that scientists found among 7 of the families encoded for proteins involved in fatty acid metabolism. A possible theory to explain this link is that breast cancer cells target these pathways to improve their survival rate.

The findings from this study need to be evaluated further and tested in order to determine whether the fatty acid theory is plausible and if it impacts the ways in which tumors grow. The findings from this study are promising, as they could lead to more inclusive genetic testing and treatments that can target each type of cancer based on the results of those tests.

Accessibility Barriers

While gene testing could potentially be a way to determine breast cancer risks before diagnostic testing is needed, the barriers to this advanced form of treatment must be acknowledged.

What is Gene Testing?

Gene testing can be a way for an individual to find out if they are at a higher risk for developing breast cancer in their lifetime. It is done by taking an organic sample from the individual and testing them for the gene markers that can indicate a future breast cancer diagnosis.

Cost Barriers

Gene testing is still considered an experimental intervention/treatment method by most insurance companies. Therefore, it is likely that out-of-network costs would factor into receiving this preventative treatment. These costs can be high and can lessen the number of people benefitting from these methods.

Lack of Diversity

Another barrier to treatment is the lack of diversity in the research surrounding gene testing. As Cooke stated in this article, most of the knowledge and research surrounding gene testing is focused on those of European descent. So there is a gap in this knowledge when applying it to individuals with different ethnic backgrounds, because the current information may not be relevant to them.

Physical Barriers

This treatment may also have physical barriers. Depending on where the gene testing facility is, samples may have to be mailed in or collected in a clinical setting. If these samples must be mailed, there may be an extra cost (given the nature of the material being sent). And individuals who live in more isolated areas from these treatment facilities may have difficulty accessing this treatment. While gene testing can be a way to provide an earlier intervention to a breast cancer diagnosis, it may not be the most accessible, affordable, or effective treatment if these barriers are not factored into how it is implemented in healthcare.

A link to this article can be found here.


References:

Cooke, E. (2024, November 5). BRCA only explains a fraction of breast cancers — genes tied to metabolism may also up risk. livescience.com. https://www.livescience.com/health/cancer/brca-only-explains-a-fraction-of-breast-cancers-genes-tied-to-metabolism-may-also-up-risk

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