Experts: New Studies on Genetic Breast Cancer Risks Will Help in Counseling Patients

Genetic Breast Cancer Risks

Doctors and specialists who study breast cancer are welcoming information from two recent studies that estimate risks for the disease from certain genetic variations and mutations. Dr. Grace Makari-Judson, an onologist, is associate medical director for cancer services, and medical director of the family cancer risk program in the Baystate Regional Cancer Program.

“These studies provide welcome information outlining estimated risks of breast cancer in less well-studied genes,” said Baystate Health’s Dr. Grace Makari-Judson. “Many of these genes are considered as ‘low-to-moderate penetrance genes,’ meaning that most people that inherit these genes will still not develop cancer. This was substantiated when testing women with known breast cancer compared to those tested purely on family history.” Makari-Judson went on to state, ““The more information we have, the better we can counsel women, but more research is needed to obtain accurate estimates of lifetime risk of cancer and to understand how well risk-reducing strategies and increased surveillance work in these specific populations.” Makari-Judson’s comments were reinforced by Dr. Nada Kawar of Mercy Medical’s Center for Breast Health and Gynecologic Oncology who called the studies overall “both very helpful, but not practice-changing.”

“The studies provide more numerical values to tell patients as I counsel them and the question of whether they decide to change their clinical management, change the kind of surgery they have or whether they decide to take medication to help decrease their risk, that will have to be a discussion,” said Kawar, who specializes in cancers of the breast and reproductive system as a gynecologic oncologist. “It will not dramatically change our practice now because a lot of these genes have already been identified, but we will have more definitive numbers to quantified the risk.”

One of the recent studies looked to better identify genetic counselling on the overall risk ratio for breast cancer associated with certain genetic mutations and variants, as well as, the risk for type of breast cancer and which genes are most clinically useful for inclusion on a panel to predict risk.  This study involved samples from 60,466 women with breast cancer and 53,461 men who did not have cancer as the control group. The results include finding certain mutations and variants associated with a higher risk of estrogen-receptor positive breast cancer compared to estrogen-receptor negative, while others showed higher risk of estrogen-receptor negative breast cancer.

The second recent study, looked to provide estimates of many breast cancer risks associated with genetic alterations in known breast cancer disposition genes, including BRCA1 and BRCA2 genes, within the U.S. population, and better educate screening and clinical management strategies for them. This study involved 32,247 women with breast cancer and 32,544 who did not. The study sequenced a custom multigene panel to identify germ line pathogenic variants in 28 cancer-predisposition genes. Pathogenic variants in 12 established breast cancer–predisposition genes were detected in 5.03% of the breast cancer cases and in 1.63% of those without breast cancer. Pathogenic variants in the genes known as BRCA1 and BRCA2 were associated with a high breast cancer risk, with odds ratios shown in the study of 7.62, and 5.23 respectively. Certain breast cancer risks are unable to be changed, though aspects like daily exercise and zero to little alcohol consumption can support your breast cancer risk being low. Inherited changes in the BRCA1 and BRCA2 genes can have a significant affect on your breast cancer risk, as well. 

“Over recent years, we have evolved from testing of BRCA1 and 2, to testing of smaller 8 to 10 gene panels to now testing which includes upwards of 27 to 77 genes,” Makari-Judson said. “The more genes we test, the more likely it is that we identify a gene that we have limited information to quantitate lifetime breast cancer risks. The information on effective strategies to prevent or effectively screen for cancer in individuals with these genetic variants is even more limited.” When asked about how the new information might help inform a woman’s treatment decision, Makari-Judson presented “an example of how this comes up in counseling a woman who has inherited a ‘moderate-risk’ gene that is associated with lifetime risk of 20-25%.”

“This is higher than the average women, whose risk is 13%, but much lower than the risks associated with BRCA1 that could be as high as 70 to 80%,” Makari-Judson said. “Is it worth having a preventative mastectomy when the odds are that this woman would never have breast cancer? Other strategies include watching a woman more closely for example, with breast MRI and considering taking risk-reducing anti-estrogen medications such tamoxifen, raloxifene or an aromatase inhibitor. This approach makes more sense even though these strategies have not been specifically studied in many of these hereditary syndromes.”

Finally, “Everyone has changes in their genes,” Kawar said. “It is whether or not those changes cause a change in the function of the gene in the protein it produces and whether that then develops a problem that can lead to cancer developing.” It is up to you to get results and analysis on your breast cancer risks.

What does this mean for you? Identify your breast cancer risks through genetic tests. Genetic testing can further the information on the genes you or a loved one carry. Research shows that genetic testing can help your provider recommend more precise treatment options. Genetic testing can also help you determine whether you (or your loved one) are at an increased risk for cancer and how to improve the prognosis.

Vita Medical Solutions is proud to partner with laboratories to facilitate access to advanced hereditary cancer (CGx) genetic testing.

Learn more about your personal and family genetic makeup and personalized medicine options through our genetic test offerings. Read more specifically about CGx testing here:

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