HNPCC gene mutations; mismatch repair mutations

Laboratory

• MSH2 gene mutation (type 1)
• MLH1 gene mutation (type 2)
• PMS1 gene mutation (type 3) <may not be Loinc>
• PMS2 genotyping (type 4)
• MSH6 gene mutation (type 5)
• TGFBR2 gene mutation (type 6)
• MLH3 gene mutation (type 7) <may not be Loinc>

Clinical significance

• see HNPCC

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• DNA mismatch repair; post-replication repair; DNA loop repair
• familial nonpolyposis colon cancer; hereditary nonpolyposis colorectal cancer (HNPCC); Lynch syndrome; cancer family syndrome