MYH-Associated Polyposis

This section has been reviewed and approved by the Cancer.Net Editorial Board, 06/2014

What is MYH-associated polyposis?

MYH-associated polyposis (MAP) is a hereditary condition. People with MAP tend to develop multiple adenomatous colon polyps during their lifetime and will have an increased risk of colorectal cancer. An adenomatous polyp is an area where the normal cells that line the inside of the colon begin to make mucous and form a mass. A polyp is benign, meaning it is noncancerous and will not spread. However, a polyp can eventually turn malignant, meaning cancerous and can spread to other parts of the body. It is also likely that people with MAP will develop polyps and colorectal cancer at a relatively young age, in their 20s to 50s.

MAP has only recently been described by medical researchers, and there is much to be learned about the condition. MAP appears to be similar to other hereditary conditions of familial adenomatous polyposis (FAP) and attenuated familial adenomatous polyposis (AFAP). It is currently unknown if people with MAP have an increased risk of polyps or cancer in other parts of the digestive tract, such as the stomach or small intestine.

What causes MAP?

MAP is a genetic condition. This means that the risk of colon polyps and colorectal cancer can be passed from generation to generation in a family. Mutations, meaning alterations, in the MYH gene are known to cause MAP.

How is MAP inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. MAP follows an autosomal recessive inheritance pattern, in which a mutation needs to be present in both copies of the MYH gene in order for a person to have an increased risk of getting that disease. This means that each parent must pass on a gene mutation for a child to be affected. A person who has only one copy of the gene mutation is called a carrier. When both parents are carriers of a recessive gene mutation, there is a 25% chance that a child will inherit two mutations and be affected. 

Options exist for couples interested in having a child when they know that one of them carries a gene mutation that increases the risk for this hereditary cancer syndrome. Preimplantation Genetic Diagnosis (PGD) is a medical procedure done in conjunction with in-vitro fertilization (IVF). It allows people who carry a specific known genetic mutation to have children who do not carry the mutation. A woman’s eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, one cell is removed and is tested for the hereditary condition in question. The parents can then choose to transfer embryos which do not have the mutation. PGD has been in use for over a decade, and more recently has been used for several hereditary cancer predisposition syndromes.  For more information, talk with an assisted reproduction specialist at a fertility clinic.

How common is MAP?

Most colorectal cancer is sporadic, meaning it occurs by chance with no known cause. The percentage of colorectal cancer that can be attributed to MAP is unknown. It is estimated that as many as one in every 100 people may carry a single mutation in the MYH gene.

How is MAP diagnosed?

MAP is considered as a possible diagnosis when a person has multiple adenomatous colon polyps but does not have a mutation in the APC gene associated with FAP and AFAP. It may also be considered if someone has brothers or sisters with multiple colon polyps, but there is no history of colon problems in previous generations. MAP is diagnosed when a person is found to have two mutations in the MYH gene. There are two common mutations in MYH called Y165C and G382D.

What are the estimated cancer risks associated with MAP?

The specific cancer risks associated with MAP have not been determined. The risk of colorectal cancer is considered to be significantly increased, and there may be an increased risk of other cancers of the digestive tract as well.

What are the screening options for MAP?

There are no specific screening guidelines for MAP, but it has been suggested that screening for polyps and colorectal cancer in people with MAP should be similar to screening in people with FAP or AFAP.

It is important to discuss with your doctor the following screening options, as each individual is different:

  • Colonoscopy every two to three years, beginning at age 18
  • Colectomy, which is the surgical removal of the colon, may be considered if polyps cannot be managed with regular colonoscopy

Screening options may change over time as new technologies are developed and more is learned about MAP. It is important to talk with your doctor about appropriate screening tests.

Learn more about what to expect when having common tests, procedures, and scans.

Questions to ask the doctor

If you are concerned about your risk of developing cancer, talk with your doctor. Consider asking the following questions of your doctor:

  • What is my risk of colorectal cancer?
  • How many colon polyps have I had in total?
  • What type of colon polyps have I had? The two most common types are hyperplastic and adenomatous.
  • What can I do to reduce my risk of cancer?
  • What are my options for cancer screening?

If you are concerned about your family history and think your family may have MAP, consider asking the following questions:

  • Does my family history increase my risk of colorectal cancer?
  • Should I meet with a genetic counselor?
  • Should I consider genetic testing?

Additional resources

Guide to Colorectal Cancer

Familial Adenomatous Polyposis

Attenuated Familial Adenomatous Polyposis

What to Expect When You Meet With a Genetic Counselor

Colon Cancer Alliance

C3: Colorectal Cancer Coalition

To find a genetic counselor in your area, ask your doctor or visit the following websites:                     

National Society of Genetic Counselors            

National Cancer Institute