HSD3B1 gene research shows association between genotype and endometrial cancer: Latest novel finding adds to list of cancers associated with the HSD3B1 gene; clinical and research teams investigating potential connections

The HSD3B1 gene could hold clues for predicting and treating endometrial cancer, according to a novel finding from the Cleveland Clinic’s Lerner Research Institute.

Researchers found a certain HSD3B1 genotype was more common in women with type 2 endometrial cancer, according to the results published in JNCI Cancer Spectrum. Those patients show lower survival rates than those diagnosed with type 1 endometrial cancer, likely driven by the fact that type 2 patient cells are less hormone-dependent.

The results are the latest step in untangling the role HSD3B1‘s genotype plays in hormone-driven cancers, with previous research revealing associations with breast and prostate cancer. This body of work was in part led by Cleveland Clinic researchers and physician-scientists, and continues today with translational research and clinical trials.

HSD3B1 researchers are building a foundation for future options to treat and prevent cancer subtypes with a lower survival rate, says Nima Sharifi, MD, senior author of the paper and Director of the Lerner Research Institute’s Genitourinary Malignancies Research Center.

Despite being one of the most common cancers among women, there is no test or exam to screen for endometrial cancer. Incidence rates for this “underfunded and understudied” disease are rising in the United States, says Roberto Vargas, MD, co-author and assistant staff at the Cleveland Clinic’s Division of Gynecologic Oncology.

“Over the past three decades, we haven’t moved the bar on outcomes,” Dr. Vargas says. “Figuring out the interplay between this gene and endometrial cancer can pave a way to screen and treat it more effectively.”

HSD3B1 is a gene that regulates androgens and estrogens by producing the enzyme that converts adrenal steroid-precursors to androgens and estrogens. HSD3B1‘s genotype is either adrenal-permissive, which amplifies the process, or adrenal-restrictive, which limits it.

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