It’s All in the Genes: Endometrial Cancer Development

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


It’s All in the Genes:

Hereditary Cancer Genes Linked to Endometrial Cancer Development

DNA Strand
Do certain gene variations increase my risk of endometrial cancer?
March 16, 2022

DELRAY BEACH, FL – The American Cancer Society estimates that in 2022 there will be approximately 66,000 new cases of endometrial cancer with more than 12,500 deaths.

A new study from the University of Queensland wanted to understand what genes may have a role in the development of hereditary endometrial cancer. It is known that having a pathogenic variant within a Lynch syndrome associated gene increases a patient’s risk of acquiring endometrial cancer and other cancers of the uterus; however, these researchers decided to understand additional genes that may have a high incidence with endometrial cancer patients and their families.

The risk of hereditary endometrial cancer increases almost 2-fold with the presence of a pathogenic variant in a mismatch repair gene. Data from this study highlighted the following genes: ATM, PALB2, RAD51C, MUTYH, and NBN.1 Pathogenic variations in these genes were found at a higher incidence rate than others that were considered.

Multi-gene hereditary cancer panels are the only way for patients to fully understand their risk for pathogenic variants and development of cancer. As a result, the researchers believe that these genes, as a result of their findings, require more research to expand their therapeutic options.

  1. Kondrashova O, Shamsani J, O’Mara TA, et al. Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development. Cancers (Basel). 2021;13(8):1762. Published 2021 Apr 7. doi:10.3390/cancers13081762
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