Mismatch repair cancer syndrome
Biallelic mismatch repair mutations cause gut and brain tumors.
Last updated
In this condition, inherited mutations in both copies of a DNA mismatch repair gene cause tumors to form in the gut and central nervous system. Affected individuals develop multiple polyps in the large intestine and brain tumors.
Quick Facts
- Field
- Oncology
Facts from the source article.
Genetics
Under the name constitutional mismatch repair-deficiency (CMMR-D), the condition maps to MLH1, MSH2, MSH6, or PMS2. Monoallelic mutations of these genes cause Lynch syndrome (hereditary nonpolyposis colorectal cancer), which is autosomal dominant; biallelic mutations cause CMMR-D, classified as autosomal recessive. Individuals expressing the HNPCC trait are carriers of CMMR-D. Café-au-lait macules have been observed.
Diagnosis
Diagnosis involves childhood to early adult onset HNPCC with malignant gliomas. The polyps tend to be larger, fewer, and progress to malignancy earlier than those in familial adenomatous polyposis. Testing requires a blood sample; a genetic specialist compares two copies of the patient's gene to normal MMR genes. Differences in the genes allow further testing to determine if the deficiency is present.
Did You Know?
- The term 'childhood cancer syndrome' has been proposed for this condition.
- OMIM currently includes 'Turcot syndrome' under 'mismatch repair cancer syndrome'.
More in Syndromes Affecting the Gastrointestinal Tract
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Mismatch repair cancer syndrome (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
Spotted an error? Know more?
Reader corrections go straight into our review queue. Suggest an edit · How this site is sourced