BRCA mutations are linked with an increased risk of several cancers, particularly breast and ovarian cancers. The role that these mutations play in uterine cancer risk is unclear.

Uterine cancer develops in the uterus, or womb. According to the American Cancer Society, it’s the most common cancer affecting the female reproductive system. About 66,200 new diagnoses of uterine cancer are expected in 2023.

While anyone can get cancer, some factors can increase your risk. Genetic mutations, such as those in BRCA1 and BRCA2, are one risk factor.

This article reviews what we know about BRCA mutations and uterine cancer risk. We’ll also cover other risk factors for uterine cancer, symptoms to look out for, and more.

Types of uterine cancer

There are two types of uterine cancer:

  • Endometrial cancer starts in the inner lining of the uterus. It’s the most common type of uterine cancer, and people typically have a positive outlook if it’s found early.
  • Uterine sarcoma is rarer and starts in the muscular tissue of the uterus. These cancers are often aggressive and can be more difficult to treat.
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BRCA mutations are known to increase the risk of breast, ovarian, and several other cancers. The exact role that BRCA gene mutations play in uterine cancer risk is still unclear.

A 2016 study looked at women with BRCA mutations who had a risk-reducing removal of their ovaries and fallopian tubes. While the overall risk of uterine cancer wasn’t higher, BRCA1 mutations were associated with a higher risk of serous carcinoma.

Serous carcinoma is an uncommon but aggressive endometrial cancer. Other studies have supported the findings of increased risk of uterine cancer, especially aggressive types such as serous carcinoma, in people with BRCA mutations.

But, other studies have not found that having a BRCA mutation increases uterine cancer risk. Researchers continue to investigate how BRCA mutations affected uterine cancer risk, both overall and for specific types of uterine cancer.

Uterine cancer risk factors

There are several risk factors for uterine cancer. These include:

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Screening tests help to find cancer early in people who have no signs or symptoms of cancer. When cancer is detected earlier, it’s easier to treat and your outlook is typically improved.

According to the National Cancer Institute and the American Academy of Obstetricians and Gynecologists, there’s no standard routine screening test for uterine cancer.

The American Cancer Society notes that people at a high risk of uterine cancer should see a doctor for any abnormal vaginal bleeding. They also recommend yearly endometrial biopsies starting at age 35 for those with Lynch syndrome.

If you have a BRCA gene mutation, talk with a doctor about your individual risk for uterine cancer and whether any additional monitoring is needed.

Preventive surgeries

The American Cancer Society notes that individuals with Lynch syndrome can consider having a risk-reducing hysterectomy to reduce their risk of uterine cancer. A hysterectomy removes the uterus.

But, research doesn’t provide strong evidence for routine risk-reducing hysterectomy in people with BRCA mutations. Whether or not to have one if you have a BRCA mutation is an individual decision.

The most common symptom of uterine cancer is abnormal vaginal bleeding. This includes:

Other potential symptoms of uterine cancer are:

Many of the symptoms above can be caused by conditions other than cancer. But it’s important to see a doctor if you have symptoms that are concerning, particularly if they’re severe, persistent, or recurring.

If a doctor suspects uterine cancer, they’ll order a transvaginal ultrasound. This is an imaging test in which the ultrasound probe is placed into your vagina in order to examine the uterus.

To confirm a diagnosis of uterine cancer, a tissue sample needs to be collected to check for cancer cells. If cancer is found, the sample can also be tested to further characterize the cancer. A tissue sample may be collected using:

After your diagnosis, your doctor will do other tests to check your overall health and to see how far your cancer has spread. This can involve blood tests and additional imaging tests such as:

According to the National Cancer Institute, only 10% of uterine cancers are metastatic (meaning it’s spread to other parts of your body) at diagnosis. Most (67%) are still only in the uterus at diagnosis, while 19% are diagnosed when they’ve spread regionally.

BRCA mutations are most often linked to breast cancer and ovarian cancer, but they can also increase the risk for several other cancer types, including:

Learn more about BRCA gene mutations here.

It’s still unclear how BRCA mutations affect uterine cancer risk. Some research suggests that BRCA mutations boost the risk of uterine cancer, particularly that of more uncommon, aggressive types.

But, other research hasn’t supported a link between BRCA mutations and uterine cancer. Overall, additional research is needed.

There’s no screening test for uterine cancer, but many cancers are found early due to symptoms such as abnormal vaginal bleeding. Be sure to see a doctor if you’re having abnormal vaginal bleeding or other concerning symptoms.