Could DNA Link Cancer Risk for Some Women?

Last modified: August 2, 2019

Richard Honaker M.D.
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Is your risk for cancer embedded in your DNA? A new study found that some women who have cancer share an alteration in their DNA. Could this be the missing link to cancer?

Nobody wants to find out that they have an alteration in their DNA linked with the growth and evolution of cancer. What’s worse is to just accept that, in most cases, experts are not able to say how much such alteration may increase a person’s risk for getting cancer. Such uncertainty yields to anxiety and could even confuse or mar treatment decisions.

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Let’s take a closer look at the recent study on cancer, DNA, and an increased risk.

Latest Research on DNA Alterations in Women with Cancer Could Provide New Insights on Prevention, Treatment, and Diagnosis

A recent study published in JCO Precision Oncology, the largest of its kind, analyzed genetic test results, family histories, and disease status of approximately 95,600 women. All those women had undergone genetic testing for 25 alterations linked with the development of breast and ovarian cancer.

The researchers from the Stanford University School of Medicine and Fox Chase Cancer Center in Philadelphia have found that some of the women had cancer but most did not. Around 7 percent of the women in the study carried at least one of the alterations.

The researchers’ goal was to be the first to give much needed clarity to women and their doctors who are having a hard time on how to interpret the results of genetic testing. The study could also help organizations who make guidelines such as the American Cancer Society to recommend when extra or more successive screening tests might be needed.

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A Better Understanding of Cancer and the Potential Increased Risks for Women is Vital

According to the lead author of the study, the findings of the research will help to personalize the risk estimates and the recommendations for preventive care. A better understanding of a cancer risk can aid women and their doctors to make better-informed decisions about choices on how to better manage the cancer risk.

“The results of this study will help to personalize our risk estimates and recommendations for preventive care,” explained lead author of the study, Allison Kurian, who is also the Associate Professor of medicine and of health research and policy at Stanford. “A better understanding of cancer risks can help women and their clinicians make better-informed decision about options to manage cancer risk.”

She also mentioned an example wherein some women who have a high risk of developing breast cancer may consider the option of having a preventive mastectomy. Those who have a lower risk like having a twofold elevation over the average risk may instead choose to pursue an intensive regular screening that includes breast magnetic resonance imaging.

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Women who are tested for a series of cancer-linked mutations or alterations are more and more being given a mixed bag of test results. State-of-the-art DNA sequencing have made it faster, easier, and cheaper to pinpoint alterations in an ever-growing series of cancer-linked genes. Except for the well-studied alterations like BRCA1 and BRCA2, the exact effect of most of the alterations remains unclear due to the very few large-scale studies that have been completed.

Cancer Risk Linked to DNA Alterations in Women Says New Study

8 DNA Alterations Were Linked to the Development of Breast Cancer; 11 Linked to Ovarian Cancer

The study evaluated the alteration status of 95,561 women with and without cancer who opted to have their genome tested for the existence of 25 cancer-linked alterations between September 2013 and September 2016. Women were matched in relation to their ages, ethnicity, and family history of cancer to designate a relative risk of getting cancer to every genetic alteration.

The researchers discovered that eight of the alterations were positively linked with the development of breast cancer, and eleven were positively linked with ovarian cancer. Heightened cancer risk for women who have the alterations ranged from2 to 40 times that of a woman without the alteration.

The study’s large sample size gave a reliable data set on real people, which is a remarkable advantage in working to determine the strength of links between genetic alterations and risk.

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The researchers’ discoveries in many cases matched with what had already been revealed by some smaller studies, but there were some eye-openers. One alteration assumed to raise a woman’s risk of breast cancer was shown to instead raise the risk of ovarian cancer. Three other alterations that were thought to raise the risk of breast cancer appear to have very little effect.

The lead author also said that one surprising discovery that they found was that the link of a raised ovarian cancer risk with alterations in a gene called ATM. She said that even if the risk was practically small quantitatively, it was still statistically noteworthy and that it had not been published before. Further studies are needed to determine the clinical importance of this discovery and to expand the base of evidence that is used to advise the patients.

This particular research is a perfect example of an institution’s focus on precision health. Its main aim is to anticipate and prevent illnesses in the healthy and to accurately diagnose and treat illnesses.

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Submitted by Dr. Richard Honaker:

Disclaimer: This article provides general information and is not intended to diagnose, treat or cure any disease or medical condition. If you require specific advice, please consult one of our medical professionals through the app. However, in case of an emergency, please call 911.

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