Uterine cancer genetic risk

Approximately 34,000 American women are diagnosed with uterine cancer each year.  In most instances, the cause is unknown, but for one in 10 women with uterine cancer, an inherited predisposition may be involved.  Genetic risk assessment for uterine cancer should be considered if a woman:

  • Has been diagnosed with uterine cancer at an early age (younger than 50) 
  • Has been diagnosed with uterine cancer and another cancer, such as colon, ovarian, stomach or bile duct
  • Has a history of colon polyps before age 40
  • Has family members with any of the above 

Of hereditary uterine cancers, approximately 50 to 70 percent are associated with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, also known as Lynch syndrome.  HNPCC is caused by the inheritance of a predisposing mutation in a single gene.  The mutation confers increased risks for a particular spectrum of cancers (colon, ovarian, stomach, urinary tract and biliary tract).  In some families, breast cancer and characteristic skin tumors may also occur.    Genetic risk assessment and, in many cases, genetic testing can be used to diagnose this syndrome. 

Advantages of knowing you are at increased risk

  • Targeted detection strategies may help to identify cancers (uterine and others) at an early stage, when treatment is more likely to be successful
  • Prevention options may exist for certain kinds of cancer
  • Identification of a genetic predisposition may allow other family members to clarify their own risk 

How to find out if you are at increased risk

A genetic evaluation is a multi-step process that includes:

  • A review of your medical and family history
  • A physical examination for signs of a specific hereditary syndrome
  • Education and genetic counseling
  • Discussion of the risks, benefits and limitations of appropriate genetic tests
  • Interpretation of genetic test results
  • Discussion of options for early cancer detection and risk reduction 

Did you know?

  • Uterine cancer is the most common gynecologic cancer and is very curable if caught early
  • A woman's risk for uterine cancer increases after age 40
  • Diabetes increases your risk for uterine cancer
  • Other risk factors include infertility, late menopause, never having children, obesity, estrogen replacement therapy (without progestins) and Tamoxifen® use.
  • There is no routine screening test for uterine cancer
  • A biopsy of the lining of the uterus to determine if uterine cancer is present can be done in the gynecologist's office
  • Transvaginal ultrasound may also be helpful in detecting abnormalities of the uterine lining in high-risk women

What you should look for:

  • Abnormal bloating
  • Abnormal spotting or vaginal discharge
  • Abnormal vaginal bleeding (between menstrual periods or after menopause)
  • Pelvic fullness or cramping
  • Unexplained weight loss or gain
  • If any of these symptoms persist, see your healthcare professional.

Please click here to connect to the Cedars-Sinai uterine cancer web page.

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