Mismatch repair cancer syndrome: Difference between revisions
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[[File:Autosomal_recessive_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Mismatch repair cancer syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Mismatch repair cancer syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Constitutional mismatch repair deficiency syndrome | |||
| field = [[Oncology]], [[Genetics]] | |||
| symptoms = [[Colorectal cancer]], [[brain tumors]], [[leukemia]], [[lymphoma]], [[café-au-lait spots]] | |||
| complications = Increased risk of various cancers | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Mutations in [[mismatch repair]] genes ([[MLH1]], [[MSH2]], [[MSH6]], [[PMS2]]) | |||
| risks = Family history of [[Lynch syndrome]] | |||
| diagnosis = [[Genetic testing]], [[microsatellite instability]] testing | |||
| differential = [[Lynch syndrome]], [[Neurofibromatosis type I]] | |||
| prevention = Regular [[cancer screening]] | |||
| treatment = [[Surgery]], [[chemotherapy]], [[radiation therapy]] | |||
| prognosis = Variable, depends on cancer type and stage | |||
| frequency = Rare | |||
}} | |||
'''Mismatch repair cancer syndrome''' (MMRCS), also known as '''Lynch syndrome''', is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, which are collectively referred to as [[colorectal cancer]]. This syndrome is caused by mutations in genes responsible for the [[DNA mismatch repair]] (MMR) system, which is crucial for correcting errors that occur during DNA replication. | |||
==Genetics== | ==Genetics== | ||
MMRCS is typically inherited in an [[autosomal dominant]] manner, meaning that a mutation in just one of the two copies of the gene is sufficient to increase cancer risk. The primary genes involved in MMRCS include [[MLH1]], [[MSH2]], [[MSH6]], and [[PMS2]]. Mutations in these genes impair the MMR system, leading to an accumulation of errors in the DNA, which can result in uncontrolled cell growth and cancer. | MMRCS is typically inherited in an [[autosomal dominant]] manner, meaning that a mutation in just one of the two copies of the gene is sufficient to increase cancer risk. The primary genes involved in MMRCS include [[MLH1]], [[MSH2]], [[MSH6]], and [[PMS2]]. Mutations in these genes impair the MMR system, leading to an accumulation of errors in the DNA, which can result in uncontrolled cell growth and cancer. | ||
==Associated Cancers== | ==Associated Cancers== | ||
Individuals with MMRCS have a significantly increased risk of developing several types of cancer, including: | Individuals with MMRCS have a significantly increased risk of developing several types of cancer, including: | ||
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* [[Brain cancer]] | * [[Brain cancer]] | ||
* [[Skin cancer]] | * [[Skin cancer]] | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of MMRCS typically involves a combination of family history assessment, genetic testing, and tumor testing. Genetic testing can identify mutations in the MMR genes, while tumor testing can reveal microsatellite instability (MSI) or loss of MMR protein expression, both of which are indicative of MMR deficiency. | Diagnosis of MMRCS typically involves a combination of family history assessment, genetic testing, and tumor testing. Genetic testing can identify mutations in the MMR genes, while tumor testing can reveal microsatellite instability (MSI) or loss of MMR protein expression, both of which are indicative of MMR deficiency. | ||
==Management== | ==Management== | ||
Management of MMRCS involves regular surveillance and screening for early detection of cancers. This may include: | Management of MMRCS involves regular surveillance and screening for early detection of cancers. This may include: | ||
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* Annual or biennial endometrial biopsy for women | * Annual or biennial endometrial biopsy for women | ||
* Consideration of prophylactic surgeries, such as [[colectomy]] or [[hysterectomy]], in certain high-risk individuals | * Consideration of prophylactic surgeries, such as [[colectomy]] or [[hysterectomy]], in certain high-risk individuals | ||
==Prevention== | ==Prevention== | ||
Preventive measures for individuals with MMRCS may include lifestyle modifications, such as maintaining a healthy diet, regular exercise, and avoiding smoking. Additionally, chemoprevention with aspirin has been shown to reduce the risk of colorectal cancer in some individuals with MMRCS. | Preventive measures for individuals with MMRCS may include lifestyle modifications, such as maintaining a healthy diet, regular exercise, and avoiding smoking. Additionally, chemoprevention with aspirin has been shown to reduce the risk of colorectal cancer in some individuals with MMRCS. | ||
==See Also== | ==See Also== | ||
* [[Colorectal cancer]] | * [[Colorectal cancer]] | ||
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* [[Autosomal dominant]] | * [[Autosomal dominant]] | ||
* [[DNA mismatch repair]] | * [[DNA mismatch repair]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External Links== | ==External Links== | ||
{{Commons category|Mismatch repair cancer syndrome}} | {{Commons category|Mismatch repair cancer syndrome}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Cancer]] | [[Category:Cancer]] | ||
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[[Category:DNA repair]] | [[Category:DNA repair]] | ||
[[Category:Colorectal cancer]] | [[Category:Colorectal cancer]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:34, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Mismatch repair cancer syndrome | |
|---|---|
| |
| Synonyms | Constitutional mismatch repair deficiency syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Colorectal cancer, brain tumors, leukemia, lymphoma, café-au-lait spots |
| Complications | Increased risk of various cancers |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS2) |
| Risks | Family history of Lynch syndrome |
| Diagnosis | Genetic testing, microsatellite instability testing |
| Differential diagnosis | Lynch syndrome, Neurofibromatosis type I |
| Prevention | Regular cancer screening |
| Treatment | Surgery, chemotherapy, radiation therapy |
| Medication | N/A |
| Prognosis | Variable, depends on cancer type and stage |
| Frequency | Rare |
| Deaths | N/A |
Mismatch repair cancer syndrome (MMRCS), also known as Lynch syndrome, is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, which are collectively referred to as colorectal cancer. This syndrome is caused by mutations in genes responsible for the DNA mismatch repair (MMR) system, which is crucial for correcting errors that occur during DNA replication.
Genetics[edit]
MMRCS is typically inherited in an autosomal dominant manner, meaning that a mutation in just one of the two copies of the gene is sufficient to increase cancer risk. The primary genes involved in MMRCS include MLH1, MSH2, MSH6, and PMS2. Mutations in these genes impair the MMR system, leading to an accumulation of errors in the DNA, which can result in uncontrolled cell growth and cancer.
Associated Cancers[edit]
Individuals with MMRCS have a significantly increased risk of developing several types of cancer, including:
- Colorectal cancer
- Endometrial cancer
- Ovarian cancer
- Gastric cancer
- Small intestine cancer
- Hepatobiliary cancer
- Urinary tract cancer
- Brain cancer
- Skin cancer
Diagnosis[edit]
Diagnosis of MMRCS typically involves a combination of family history assessment, genetic testing, and tumor testing. Genetic testing can identify mutations in the MMR genes, while tumor testing can reveal microsatellite instability (MSI) or loss of MMR protein expression, both of which are indicative of MMR deficiency.
Management[edit]
Management of MMRCS involves regular surveillance and screening for early detection of cancers. This may include:
- Regular colonoscopy starting at an earlier age than the general population
- Annual or biennial endometrial biopsy for women
- Consideration of prophylactic surgeries, such as colectomy or hysterectomy, in certain high-risk individuals
Prevention[edit]
Preventive measures for individuals with MMRCS may include lifestyle modifications, such as maintaining a healthy diet, regular exercise, and avoiding smoking. Additionally, chemoprevention with aspirin has been shown to reduce the risk of colorectal cancer in some individuals with MMRCS.
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
