MUTYH-associated polyposis: Difference between revisions
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{{Infobox medical condition | |||
| name = MUTYH-associated polyposis | |||
| synonyms = MAP | |||
| field = [[Gastroenterology]], [[Medical genetics]] | |||
| symptoms = [[Colorectal polyps]], [[Colorectal cancer]] | |||
| complications = [[Colorectal cancer]], [[Duodenal cancer]] | |||
| onset = Typically in adulthood | |||
| duration = Lifelong | |||
| causes = Mutations in the ''[[MUTYH]]'' gene | |||
| risks = Family history of MAP | |||
| diagnosis = [[Genetic testing]], [[Colonoscopy]] | |||
| differential = [[Familial adenomatous polyposis]], [[Lynch syndrome]] | |||
| prevention = Regular [[colonoscopy]] screening | |||
| treatment = [[Surgical resection]], [[Surveillance]] | |||
| prognosis = Variable, depends on early detection and management | |||
| frequency = Rare, estimated 1-2% of all [[colorectal cancer]] cases | |||
}} | |||
'''MUTYH-associated polyposis''' (MAP) is a condition characterized by the development of multiple [[adenomatous polyps]] in the [[colon]] and the [[rectum]]. It is a type of [[hereditary colorectal cancer syndrome]] and is caused by mutations in the [[MUTYH]] gene. | '''MUTYH-associated polyposis''' (MAP) is a condition characterized by the development of multiple [[adenomatous polyps]] in the [[colon]] and the [[rectum]]. It is a type of [[hereditary colorectal cancer syndrome]] and is caused by mutations in the [[MUTYH]] gene. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
People with MAP often develop fewer than 100 adenomatous polyps, but the exact number can vary widely. The polyps are generally found in individuals in their forties. If the polyps are not removed, they can become cancerous. Other signs and symptoms of MAP can include [[osteomas]] (benign bone tumors), [[dental abnormalities]], [[desmoid tumors]], and [[duodenal polyps]] or cancer. | People with MAP often develop fewer than 100 adenomatous polyps, but the exact number can vary widely. The polyps are generally found in individuals in their forties. If the polyps are not removed, they can become cancerous. Other signs and symptoms of MAP can include [[osteomas]] (benign bone tumors), [[dental abnormalities]], [[desmoid tumors]], and [[duodenal polyps]] or cancer. | ||
== Genetics == | == Genetics == | ||
MAP is caused by mutations in the MUTYH gene. This gene provides instructions for making a protein that is involved in [[DNA repair]]. Specifically, the MUTYH protein fixes mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. Mutations in the MUTYH gene prevent the protein from repairing mistakes made during DNA replication. As a result, unrepaired DNA can lead to more mutations in other genes and the formation of polyps. | MAP is caused by mutations in the MUTYH gene. This gene provides instructions for making a protein that is involved in [[DNA repair]]. Specifically, the MUTYH protein fixes mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. Mutations in the MUTYH gene prevent the protein from repairing mistakes made during DNA replication. As a result, unrepaired DNA can lead to more mutations in other genes and the formation of polyps. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of MAP is considered in individuals with multiple adenomatous polyps and a family history of polyps or colorectal cancer. Genetic testing for mutations in the MUTYH gene can confirm the diagnosis. | The diagnosis of MAP is considered in individuals with multiple adenomatous polyps and a family history of polyps or colorectal cancer. Genetic testing for mutations in the MUTYH gene can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
The treatment for MAP involves regular colonoscopies to detect and remove polyps before they become cancerous. In some cases, surgery to remove the entire colon and rectum may be necessary. | The treatment for MAP involves regular colonoscopies to detect and remove polyps before they become cancerous. In some cases, surgery to remove the entire colon and rectum may be necessary. | ||
== See Also == | == See Also == | ||
* [[Colorectal cancer]] | * [[Colorectal cancer]] | ||
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* [[Hereditary colorectal cancer syndromes]] | * [[Hereditary colorectal cancer syndromes]] | ||
* [[MUTYH]] | * [[MUTYH]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Colorectal cancer]] | [[Category:Colorectal cancer]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 05:44, 4 April 2025
| MUTYH-associated polyposis | |
|---|---|
| Synonyms | MAP |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Colorectal polyps, Colorectal cancer |
| Complications | Colorectal cancer, Duodenal cancer |
| Onset | Typically in adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the MUTYH gene |
| Risks | Family history of MAP |
| Diagnosis | Genetic testing, Colonoscopy |
| Differential diagnosis | Familial adenomatous polyposis, Lynch syndrome |
| Prevention | Regular colonoscopy screening |
| Treatment | Surgical resection, Surveillance |
| Medication | N/A |
| Prognosis | Variable, depends on early detection and management |
| Frequency | Rare, estimated 1-2% of all colorectal cancer cases |
| Deaths | N/A |
MUTYH-associated polyposis (MAP) is a condition characterized by the development of multiple adenomatous polyps in the colon and the rectum. It is a type of hereditary colorectal cancer syndrome and is caused by mutations in the MUTYH gene.
Signs and Symptoms[edit]
People with MAP often develop fewer than 100 adenomatous polyps, but the exact number can vary widely. The polyps are generally found in individuals in their forties. If the polyps are not removed, they can become cancerous. Other signs and symptoms of MAP can include osteomas (benign bone tumors), dental abnormalities, desmoid tumors, and duodenal polyps or cancer.
Genetics[edit]
MAP is caused by mutations in the MUTYH gene. This gene provides instructions for making a protein that is involved in DNA repair. Specifically, the MUTYH protein fixes mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. Mutations in the MUTYH gene prevent the protein from repairing mistakes made during DNA replication. As a result, unrepaired DNA can lead to more mutations in other genes and the formation of polyps.
Diagnosis[edit]
The diagnosis of MAP is considered in individuals with multiple adenomatous polyps and a family history of polyps or colorectal cancer. Genetic testing for mutations in the MUTYH gene can confirm the diagnosis.
Treatment[edit]
The treatment for MAP involves regular colonoscopies to detect and remove polyps before they become cancerous. In some cases, surgery to remove the entire colon and rectum may be necessary.
See Also[edit]
References[edit]
<references />
