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HNPCC gene mutations; mismatch repair mutations
Clinical significance:
- see HNPCC
Laboratory:
- MSH2 gene mutation (type 1)
- MLH1 gene mutation (type 2)
- PMS1 gene mutation (type 3) Loinc>
- PMS2 genotyping (type 4)
- MSH6 gene mutation (type 5)
- TGFBR2 gene mutation (type 6)
- MLH3 gene mutation (type 7) Loinc>
Related
DNA mismatch repair; post-replication repair; DNA loop repair
familial nonpolyposis colon cancer; hereditary nonpolyposis colorectal cancer (HNPCC); Lynch syndrome; cancer family syndrome
General
gene mutation testing; gene mutation analysis
References
Loinc