Inherited mutations and endometrial cancer
Genes linked to hereditary endometrial cancer
About 1 out of 10 endometrial cancers is caused by an . The genes listed below have been linked to an increased risk for hereditary endometrial cancer. Note: this is not a complete list.
A rare and aggressive type of endometrial cancer may be linked to mutations. However, researchers are still studying this link.
Genetic testing results may affect endometrial cancer treatment
- People with endometrial cancer who test positive for an may benefit from targeted or to treat their cancer.
The National Comprehensive Cancer Network (NCCN) has guidelines for genetic counseling and testing for people diagnosed with colorectal or endometrial cancer. People who have any of the following should speak with a genetics expert about genetic testing:
- A tumor test result that suggests an (for example, an MSI-H or tumor).
- A blood relative who tested positive for an linked to cancer.
- Colorectal or endometrial cancer diagnosed before age 50.
- Diagnoses of more than one cancer.
- A family history of one or more first- or second-degree relatives with any of the following types of cancer diagnosed before age 50 or two or more first- or second-degree relatives with any of the following cancers diagnosed at any age:
- small bowel
- biliary tract
- brain (usually glioblastoma)
- Colorectal cancer and a personal history of polyps:
- 10 or more adenomatous
- 2 or more hamartomatous
- 5 or more serrated close to the rectum