New Breast Cancer Risk Found in Lynch Syndrome Genes

Last updated: June 17, 2021

Contributed by:
Richard Honaker M.D.
Primary Care Physician
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New breast cancer genes may raise your breast cancer risk, according to researchers at New York Presbyterian and Columbia University Irving Medical Center. The new genes, MSH6 and PMS2 can double a woman’s breast cancer risk by age 60.

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Two New Genes for Breast Cancer Risk Revealed

The recent study published in Genetics in Medicine (2018) identified two new breast cancer genes that may put women at increased risk for developing the deadly cancer.

Breast cancer affects one in eight women in the U.S., which is roughly 12.5 percent of all women. Nearly 41,000 women are expected to die from breast cancer this year alone.

According to the Centers for Disease Control and Prevention (CDC), “For women in the U.S., breast cancer death rates are higher than those for any other cancer, besides lung cancer.”

The two new genes that may increase women’s breast cancer risk were also associated with Lynch syndrome in the past. Previous research had found a similar connection, but other studies were inconclusive.

What are the Connections Between Breast Cancer Risk and Lynch Syndrome?

Lynch syndrome is inherited and raises colorectal, stomach, ovarian, and endometrial cancer risk. It is actually the most common inherited cause of colorectal cancer. In fact, one in every 440 Americans has the gene.

Those with Lynch syndrome are probably not thinking they may also be at a higher breast cancer risk. However, genomic analysis is becoming more common for cancer, and there are new ways to associate genes with cancers, like breast cancer.

The study analyzed more than 50,000 women who had multi-gene cancer testing during a two-year period. The analysis found that 423 women did in fact have the mutation of MLH1, MSH2, MSH6, and PMS2 Lynch syndrome genes.

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Increased Breast Cancer Risk Found

Further analysis uncovered that women with MSH6 and PMS2 had twice the breast cancer risk than other women without the two genes. In fact, 31 percent to 38 percent of women with the two gene variants will develop breast cancer, compared to the baseline 15 percent.

“The new study suggests MSH6 and PMS2 should be added to the list of genes to screen for when there is a history of breast cancer,” Dr. Chung, director of the clinical genetics program at New York Presbyterian Columbia told media outlets. “Screening for these genes also would give these families potentially life-saving information to prevent colon cancer by encouraging individuals with the genes to increase the frequency of their colonoscopies.”

Testing for Lynch syndrome is not common. It is only done if someone has an individual or family history of uterine or colon cancer. Are you at higher risk for breast cancer due to these two new genes?

Related: Pain and Nipple Discharge Convinced me to Talk to Doctor

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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.

About Richard Honaker M.D.

Dr. Richard Honaker has over 40 years of experience as a primary care physician specializing in several different areas of medicine. He is able to provide expert case review and analysis for insurance and workers compensation cases as well as providing online medical consultations as the Chief Medical Advisor for Your Doctors Online.

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