- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
- Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
- MUTYH-associated Polyposis syndrome (MAP)
- MUTYH-associated Colon Cancer Risk
- Melanoma Cancer Syndrome (MCS)
- Li-Fraumeni Syndrome (LFS)
- PTEN Hamartoma Tumor syndrome (PHTS)
- Peutz-Jeghers Syndrome
- Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
- PALB2-associated Cancer Risk
- CHEK2-associated Cancer Risk
- ATM-associated Cancer Risk
- NBN-associated Cancer Risk
- BARD1-associated Cancer Risk
- BRIP1-associated Cancer Risk
- RAD51C-associated Cancer Risk
- RAD51D-associated Cancer Risk
- Polymerase Proofreading-associated Syndrome (PPAS)
- Hereditary Mixed Polyposis Syndrome (HMPS)
MUTYH-associated Polyposis Syndrome (MAP) MUTYH ASSOCIATED CANCER RISKS
MUTYH-associated Polyposis Syndrome (MAP)
MUTYH ASSOCIATED CANCER RISKS
What does it mean to have MUTYH mutations and a diagnosis of MUTYH-associated Polyposis syndrome?
People with mutations in both copies of their MUTYH gene have a condition known as MUTYH-associated Polyposis syndrome, or MAP. People with MAP have a high risk for developing large numbers of pre-cancerous polyps in their colon and rectum. An individual with MAP usually develops more than 10 and fewer than 100 polyps. Each of these polyps can develop into a cancer, and since there are so many of them, the risk for colorectal cancer is very high. Some people with MAP will develop colorectal cancer even without having many polyps.
People with MAP also have an increased risk for small bowel cancer.
What does it mean to have a mutation in only copy of the MUTYH gene?
People with a mutation in only one copy of the MUTYH gene do not have MAP because both copies of the gene must have a mutation for someone to have the condition. Someone who has only one MUTYH mutation is said to be a “carrier” for MAP. They may have relatives who have MAP, and their children may be at risk for inheriting MAP if both parents are carriers.
People with a single MUTYH mutation may have a small increased risk for colorectal cancer, but this may only be present when they have a close relative (parent, sister or child) who has already had colorectal cancer. People with close relatives who have had colorectal cancer are already expected to have extra screening for colorectal cancer, therefore finding a single MUTYH mutation does not change their medical management recommendations.
What can be done to protect individuals with a MUTYH mutation?
The National Comprehensive Cancer Network (NCCN) provides detailed recommendations for lowering the risk of cancer in people with MAP. Because of the high risk for colorectal cancer, people with MAP should begin screening with colonoscopies at young ages (25-30 years) and have them done every 2 to 3 years. In some cases, complete removal of the colon may be recommended. This may be the best choice if there are too many polyps to remove with regular colonoscopies or if it is believed that this is the most reliable way to prevent colorectal cancer in a person with MAP.
There are also recommendations for screening to reduce the risk of small bowel cancer by having endoscopies every 4 years starting at age 30-35.
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