Inherited mutations linked to colorectal cancer
Expert guidelines list who should consider genetic counseling and testing for an linked to cancer.
The most common genes associated with hereditary colorectal cancer are (click on the link for more information about each gene mutation):
There are other inherited mutations that increase the risk of colorectal cancer. Most of these are rare.
- Familial adenomatous polyposis (FAP) is caused by an in the APC gene. People with an inherited FAP mutation may develop 100s of and they may be diagnosed with colorectal cancer at a young age.
- Inherited mutations in the MUTYH gene (also called MYH) are linked to a condition called MUTYH-associated polyposis (MAP). People must be born with two abnormal copies of the MUTYH gene (one from each of their parents) in order to develop this syndrome.
- Inherited mutations in the MEN1 and genes are linked to neuroendocrine cell cancers. This includes colorectal gastrointestinal carcinoid tumors.
- Other rare inherited mutations linked to colorectal cancer risk include:
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