MUTYH-associated polyposis: Difference between revisions
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'''MUTYH-associated polyposis''' (also known as MYH-associated polyposis) is an [[autosomal recessive]] polyposis syndrome.<ref name=Tomlinson>{{cite journal |last1=Tomlinson |first1=Ian |title=An update on the molecular pathology of the intestinal polyposis syndromes |journal=Diagnostic Histopathology |date=April 2015 |volume=21 |issue=4 |pages=147–151 |doi=10.1016/j.mpdhp.2015.04.006|doi-access=free }}</ref> The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, [[MUTYH]]. The MUTYH gene encodes a [[base excision repair]] protein, which corrects oxidative damage to DNA. Affected individuals have an increased risk of [[colorectal cancer]], precancerous colon polyps ([[Adenomatous polyps|adenomas]]) and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH associated polyposis syndrome. |
'''MUTYH-associated polyposis''' (also known as MYH-associated polyposis) is an [[autosomal recessive]] polyposis syndrome.<ref name=Tomlinson>{{cite journal |last1=Tomlinson |first1=Ian |title=An update on the molecular pathology of the intestinal polyposis syndromes |journal=Diagnostic Histopathology |date=April 2015 |volume=21 |issue=4 |pages=147–151 |doi=10.1016/j.mpdhp.2015.04.006|doi-access=free }}</ref> The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, [[MUTYH]]. The MUTYH gene encodes a [[base excision repair]] protein, which corrects oxidative damage to DNA. Affected individuals have an increased risk of [[colorectal cancer]], precancerous colon polyps ([[Adenomatous polyps|adenomas]]) and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH associated polyposis syndrome. The presence of 10 or more colon adenoma should prompt consideration of MUTYH-associated polyposis, familial adenomatous polyposis and similar syndromes.<ref>{{cite journal |last1=Gupta |first1=S |last2=Provenzale |first2=D |last3=Llor |first3=X |last4=Halverson |first4=AL |last5=Grady |first5=W |last6=Chung |first6=DC |last7=Haraldsdottir |first7=S |last8=Markowitz |first8=AJ |last9=Slavin TP |first9=Jr |last10=Hampel |first10=H |last11=CGC. |last12=Ness |first12=RM |last13=Weiss |first13=JM |last14=Ahnen |first14=DJ |last15=Chen |first15=LM |last16=Cooper |first16=G |last17=Early |first17=DS |last18=Giardiello |first18=FM |last19=Hall |first19=MJ |last20=Hamilton |first20=SR |last21=Kanth |first21=P |last22=Klapman |first22=JB |last23=Lazenby |first23=AJ |last24=Lynch |first24=PM |last25=Mayer |first25=RJ |last26=Mikkelson |first26=J |last27=CGC. |last28=Peter |first28=S |last29=Regenbogen |first29=SE |last30=Dwyer |first30=MA |last31=CGC. |last32=Ogba |first32=N |title=NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019. |journal=Journal of the National Comprehensive Cancer Network : JNCCN |date=1 September 2019 |volume=17 |issue=9 |pages=1032-1041 |doi=10.6004/jnccn.2019.0044 |pmid=31487681}}</ref> |
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==Epidemiology== |
==Epidemiology== |
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Revision as of 06:42, 5 October 2020
| MUTYH-associated polyposis | |
|---|---|
| Other names | MYH-associated polyposis |
| Specialty | Medical genetics, gastroenterology |
| Complications | Colorectal cancer |
| Causes | DNA repair gene mutation |
| Diagnostic method | Colonoscopy |
| Differential diagnosis | Familial adenomatous polyposis, Lynch syndrome |
| Treatment | Colonoscopy Polypectomy |
| Frequency | <1% |
MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis syndrome.[1] The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA. Affected individuals have an increased risk of colorectal cancer, precancerous colon polyps (adenomas) and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH associated polyposis syndrome. The presence of 10 or more colon adenoma should prompt consideration of MUTYH-associated polyposis, familial adenomatous polyposis and similar syndromes.[2]
Epidemiology
Without surveillance or screening, between 43% and 100% of individuals with MUTYH-associated polyposis develop colorectal cancer.[3]
References
- ^ Tomlinson, Ian (April 2015). "An update on the molecular pathology of the intestinal polyposis syndromes". Diagnostic Histopathology. 21 (4): 147–151. doi:10.1016/j.mpdhp.2015.04.006.
- ^ Gupta, S; Provenzale, D; Llor, X; Halverson, AL; Grady, W; Chung, DC; Haraldsdottir, S; Markowitz, AJ; Slavin TP, Jr; Hampel, H; CGC.; Ness, RM; Weiss, JM; Ahnen, DJ; Chen, LM; Cooper, G; Early, DS; Giardiello, FM; Hall, MJ; Hamilton, SR; Kanth, P; Klapman, JB; Lazenby, AJ; Lynch, PM; Mayer, RJ; Mikkelson, J; CGC.; Peter, S; Regenbogen, SE; Dwyer, MA; CGC.; Ogba, N (1 September 2019). "NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019". Journal of the National Comprehensive Cancer Network : JNCCN. 17 (9): 1032–1041. doi:10.6004/jnccn.2019.0044. PMID 31487681.
- ^ Nielsen, Maartje; Lynch, Henry; Infante, Elena; Brand, Randall. "MUTYH-Associated Polyposis". NCBI. GeneReviews.