Pin Me

Do Your Genes Put You at Risk for Uterine Cancer? Genetic Factors to Consider

written by: bjlbyron•edited by: Leigh A. Zaykoski•updated: 7/15/2011

Uterine cancer strikes nearly 50,000 women and causes nearly 8,000 deaths in the U.S. annually. This article focuses on the Lkb1 and FGFR2 genes, as it is known that a mutation in either one of these genes is a uterine cancer genetic factor.

  • slide 1 of 3

    The Uterine Cancer Problem

    The uterus is a small, hollow organ located in a woman's pelvic cavity. Its primary role is to house and protect a fetus throughout the gestation period. Sadly, each year many women are stricken with uterine cancer, which first forms in the lining of the uterus. Even more disturbing, many of these women ultimately will die from this disease.

    In an effort to develop an optimal therapeutic treatment, or even a cure for uterine cancer, molecular biologists have long studied the genetic control of this condition. The following section describes the progress they have made in determining the most important uterine cancer genetic factors.

  • slide 2 of 3

    Genetic Control

    Molecular geneticists have discovered that mutations in either one of two genes, which are designated Lkb1 and FGFR2, cause a female to be highly susceptible to developing uterine cancer. Lkb1 has been shown to encode a protein that has tumor suppressor activity. That is, normal copies of Lkb1, which produce normal LKB1 protein, are involved in a highly specific genetic pathway in cells. This serves to prevent cells from ever becoming cancer cells. They typically do this by preventing cells that may yield cancer cells from dividing, or by causing cells that may produce cancer cells to die before they can do so. When mutated, however, the Lkb1 gene either produces none of its protein or it produces a defective version of its protein. In either case, the result is the same: the genetic pathway that serves to prevent cells from ever becoming cancer cells fails and cancer all-too-often results.

    The FGFR2 gene, on the other hand, encodes a protein that serves as a fibroblast growth factor receptor, which exists on the surface of cells. In normal individuals, this receptor is involved in regulating the growth of fibroblast cells. Specifically, it helps ensure that fibroblast cells are produced in normal, healthy numbers. Mutation to the FGFR2 gene results in either no or defective receptors being made. Unfortunately, when lacking a normal growth receptor on their surface, fibroblasts have a tendency to grow out of control. Such erratic growth causes cancerous tumors to form.

    Knowledge of the Lkb1 and FGFR2 genes and their roles in uterine cancer is not only interesting, but may also help scientists develop an optimal treatment course or even a cure for this dreaded disease. With this goal in mind, further study of these genes is on-going and is being conducted by multiple laboratories worldwide.

    This article is only meant to provide some basic information regarding two known uterine cancer genetic factors. If you are concerned that you may have an abnormal uterine condition, it is urged that you consult with your family doctor.

  • slide 3 of 3


    A.B. Spurdle et al., Genome-wide association study identifies a common variant associated with risk of endometrial cancer, Nature Genetics, 2011.

    C.M. Contreras et al., Loss of Lkb1 Provokes Highly Invasive Endometrial Adenocarcinomas, Cancer Research, 2007:

    National Cancer Institute, National Institutes of Health, Endometrial Cancer:

    The Translational Genomics Research Institute, TGen and Washington University Researchers Discover New Approach to Treating Uterine Cancer: