MUTYH-associated Polyposis Syndrome (MAP)

MUTYH ASSOCIATED CANCER RISKS

 BREASTOVARIANGASTRICCOLORECTALPANCREATICMELANOMAPROSTATEENDOMETRIALOTHER

Additional Information

MUTYH Monoallelic gene

Associated Syndrome Name: MUTYH-associated Colon Cancer Risk

MUTYH Monoallelic Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalElevated Risk

MUTYH Monoallelic gene Overview

MUTYH-associated Colon Cancer Risk 1, 2, 3, 4, 5
  • Individuals with a single MUTYH mutation (monoallelic MUTYH) may have a small increased risk for colorectal cancer. This increase in risk seems to be seen most consistently in patients who have a close relative (parent, brother, sister or child) who has had colorectal cancer, with increases in risk that are roughly equal to those associated with family history alone.
  • Individuals with mutations in both of their copies of the MUTYH gene (biallelic mutations) have a condition known as MUTYH-associated polyposis (MAP), which is associated with a high risk for cancer. This patient does not have a diagnosis of MAP, but may have relatives who are at risk for this condition. Please see the Information for Family Members section below for details.
  • Although there may be an increased risk for colorectal cancer for patients with a single MUTYH mutation, it may be possible to reduce this risk with appropriate medical management. The National Comprehensive Cancer Network (NCCN) has provided screening recommendations to address this risk. These guidelines will evolve as we learn more, and therefore it may be useful for patients with a single MUTYH mutation to be managed by a multidisciplinary team with expertise in medical genetics and the care of patients with hereditary cancer syndromes.

MUTYH Monoallelic gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population 6
ColorectalTo age 802, 3, 4, 53.4% to 10%3.0%

MUTYH Monoallelic Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines as of the last Myriad update shown on this page. The specific reference provided (e.g., NCCN guidelines) should be consulted for more details and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
ColorectalCurrently there are no medical management guidelines for colorectal cancer risk in patients with a single MUTYH mutation unless colorectal cancer has been diagnosed in a first-degree relative4NANA

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the MUTYH Monoallelic gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.

This patient carries one or more MUTYH clinically significant mutations. This patient's relatives are at risk for carrying one or more MUTYH clinically significant mutations. MUTYH mutations are associated with either MUTYH-associated Polyposis syndrome (MAP; 43%-100% colorectal cancer risk to age 80; 5% small bowel cancer risk to age 80) or MUTYH-associated Colon Cancer Risk (3.4%-10% colorectal cancer risk to age 80) depending on whether one or both MUTYH gene copies carry a clinically significant mutation. Genetic testing may be appropriate for close family members to determine whether or not they are at a significantly increased risk for colorectal and other cancers.

References

  1. Nielsen M, et al. MUTYH-Associated Polyposis. 2015 Sep 24. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from http://www.ncbi.nlm.nih.gov/books/NBK107219/ PMID: 23035301.
  2. Jones N, et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology. 2009 137:489-94 PubMed PMID: 19394335.
  3. Jenkins MA, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006 15:312-4. PMID: 16492921.
  4. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 1.2018. July 12. Available at http://www.nccn.org.
  5. Win AK, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014 146:1208-11. PMID: 24444654.
  6. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
Last Updated on 07-Nov-2018

MUTYH Biallelic gene

Associated Syndrome Name: MUTYH-associated Polyposis syndrome (MAP)

MUTYH Biallelic Summary Cancer Risk Table

Cancer Genetic Cancer Risk
ColorectalHigh Risk
OtherHigh Risk

MUTYH Biallelic gene Overview

MUTYH-associated Polyposis syndrome (MAP) 1
  • Individuals with mutations in both copies of the MUTYH gene have a condition called MUTYH-associated Polyposis syndrome (MAP).
  • Most patients with MAP have between 10 and 100s of colorectal polyps by a mean age of 50. These polyps are primarily adenomas, leading to a high risk for colorectal cancer. Colorectal cancer is sometimes diagnosed in individuals with no past history of polyps.
  • Patients with MAP also have an increased risk for cancer of the small bowel. Although the absolute risk is estimated to be only 5%, between 17% and 25% of patients with MAP will have duodenal polyps and consideration of upper endoscopy is recommended. Eleven percent of patients with MAP will have gastric polyps, but there does not appear to be any increased risk for gastric cancer.
  • Some studies have described a possible increased risk for a wide range of cancers and non-cancer findings in patients with MAP. However, these studies are not conclusive and the estimated risks are not large. For these reasons, there are no medical management guidelines to address these risks.
  • Although the risk for colorectal cancer in patients with MAP is very high, it is possible to reduce this risk with appropriate medical management. Guidelines for the management of patients with MAP have been developed by the National Comprehensive Cancer Network (NCCN). These are listed below. It is recommended that patients with MUTYH mutations and a diagnosis of MAP be managed by a multidisciplinary team with expertise in medical genetics and the care of patients with hereditary gastrointestinal cancer syndromes.

MUTYH Biallelic gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population 2
ColorectalTo age 80143%-100%3.0%
Small BowelTo age 8035%0.2%

MUTYH Biallelic Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines as of the last Myriad update shown on this page. The specific reference provided (e.g., NCCN guidelines) should be consulted for more details and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
ColorectalColonoscopy325 to 30 yearsEvery 2 to 3 years
Colorectal surgical evaluation and counseling.3, 4, 5Based on cancer diagnosis and/or polyp number, size and histologyNA
Small BowelConsider upper endoscopy, including complete visualization of the ampulla of Vater330 to 35 yearsEvery 4 years

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the MUTYH Biallelic gene.

A major potential benefit of myRisk genetic testing for hereditary cancer risk is the opportunity to prevent cancer in relatives of patients in whom clinically significant mutations are identified. Healthcare providers have an important role in making sure that patients with clinically significant mutations are informed about the risks to relatives, and ways in which genetic testing can guide lifesaving interventions.

This patient carries one or more MUTYH clinically significant mutations. This patient's relatives are at risk for carrying one or more MUTYH clinically significant mutations. MUTYH mutations are associated with either MUTYH-associated Polyposis syndrome (MAP; 43%-100% colorectal cancer risk to age 80; 5% small bowel cancer risk to age 80) or MUTYH-associated Colon Cancer Risk (3.4%-10% colorectal cancer risk to age 80) depending on whether one or both MUTYH gene copies carry a clinically significant mutation. Genetic testing may be appropriate for close family members to determine whether or not they are at a significantly increased risk for colorectal and other cancers.

References

  1. Nielsen M, et al. MUTYH-Associated Polyposis. 2015 Sep 24. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from http://www.ncbi.nlm.nih.gov/books/NBK107219/ PMID: 23035301.
  2. Fast Stats: An interactive tool for access to SEER cancer statistics. Surveillance Research Program, National Cancer Institute. https://seer.cancer.gov/faststats. (Accessed on 1-2-2017)
  3. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 1.2018. July 12. Available at http://www.nccn.org.
  4. Achatz MI, et al. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res. 2017 23:e107-e114. PMID: 28674119.
  5. Syngal S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 110:223-62. PMID: 25645574.
Last Updated on 07-Nov-2018