LP201874-7
MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & full mutation analysis
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Description
Lynch syndrome (HNPCC or Hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair.
HNPCC defects in DNA mismatch repair lead to microsatellite instability, also known as MSI-H, which is a hallmark of HNPCC. MSI is identifiable in cancer specimens in the pathology laboratory. Most cases result in changes in the lengths of dinucleotide repeats of the nucleobases cytosine and adenine (sequence: CACACACACA...).
HNPCC is known to be associated with mutations in genes involved in the DNA mismatch repair pathway:
MSH2
MLH1
MSH6
PMS2
PMS1
TGFBR2
MLH3
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Source: Wikipedia, Wikipedia
Basic Part Properties
- Part Display Name
- MLH1+MSH2+MSH6+PMS2 gene deletion+duplication and full mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-11-03
- Construct for LOINC Short Name
- MLH1+MSH2+MSH6+PMS2 del+dup
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- CodeSystem lookup
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