MOLECULAR STUDY HEREDITARY NONPOLYPOSIS COLON CANCER (HNPCC) (MLH1, MSH2, MSH6, PMS2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3784

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next-Generation Sequencing
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Hereditary non-polyposis colon cancer (HNPCC), caused by a germline mutation in a mismatch repair gene or associated with tumors exhibiting MSI, is characterized by an increased risk of colon cancer and other cancers (e.g., of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, skin). Individuals with HNPCC have an approximately 80% lifetime risk for colon cancer. Germline mutations in MLH1 and MSH2 account for approximately 90% of detected mutations in families with HNPCC. Mutations in MSH6 have been reported in approximately 7%-10% of families with HNPCC. Mutations in PMS2 account for fewer than 5% of mutations in families with HNPCC.
Links:
Orphanet- Hereditary nonpolyposis colon cancer HNPCC
OMIM Entry - #614337 - COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
OMIM Entry - #614350 - COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
OMIM Entry - -120436 - MutL, E. COLI, HOMOLOG OF, 1; MLH1
OMIM Entry - -609309 - MutS, E. COLI, HOMOLOG OF, 2; MSH2

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