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Inherited Mutations
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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):

  •  ()
  •  ()
  •  ( Hamartoma Tumor Syndrome)
  •  ()
  •  (Peutz-Jegher syndrome)
  •  ()
  •  ()
  •  ()


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:
    • MSH3
    • NTHL1
    • AXIN2
    • GREM1
    • BMPR1A 
    • SMAD4
    • POLE
    • POLD1

Expert Guidelines
Expert Guidelines

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:
    • colorectal
    • endometrial
    • ovarian
    • gastric
    • small bowel
    • biliary tract
    • pancreatic
    • urothelial
    • 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

Paying For Care
Paying For Care

Insurance coverage for genetic counseling and testing

Most health plans cover genetic counseling and testing for inherited gene mutations linked to cancer in people who meet the national guidelines. The cost of testing and your out-of-pocket charges may vary based on several factors.

People who are denied coverage for genetic testing can file an appeal (FORCE has sample appeal letters). Your healthcare provider can work with your insurance company and help you file an appeal if needed. Low cost testing may be available for $250 or less. Learn more about coverage for genetic counseling and testing here

If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.

testing under the Affordable Care Act

Under the Affordable Care Act (ACA), insurance companies must pay for both genetic counseling and  testing with no out-of-pocket costs for women who meet certain criteria. The ACA regulations are limited to testing for and only and do not cover genetic counseling or testing in all situations. You can learn more about testing under the ACA here

Medicare and Medicaid coverage of genetic testing

Genetic counseling and testing is typically covered by Medicare for people already diagnosed with cancer who are in treatment or for whom test results may affect their care. Most state Medicaid programs cover genetic testing for and mutations for people who meet requirements, which vary by state. You can read more about Medicare and Medicaid coverage of genetic testing here.

Financial assistance or low cost genetic testing

JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify .   

Last updated January 03, 2024