Colon Cancer and Lynch Syndrome

  • Universal screening of all colorectal cancer (CRC) specimens (NCCN, 2015; ASCO, 2014) and endometrial cancer specimens (ASCO, 2014; ESMO, 2013;NCCN, 2015) is recommended
  • Lynch Syndrome (LS) is an autosomal dominant inherited cancer syndrome that predisposes to colorectal, endometrial, gastric, ovarian, upper urinary tract, and other cancers
  • The presence of mismatch repair (MMR) deficiency helps identify patients at risk for Lynch syndrome (LS); however, it also occurs in ~15% of sporadic colorectal cancers
  • Differentiating colorectal tumors with MMR deficiency due to a sporadic somatic event from colorectal tumors with MMR deficiency due to a LS germline mutation is important

Test Menu

0049302 Mismatch Repair by Immunohistochemistry
First-line screening test for Lynch syndrome. Directs additional molecular diagnostic testing for Lynch syndrome. Includes MLH1, MSH2, MSH6, and PMS2.
2002327 Mismatch Repair by Immunohistochemistry with Reflex to BRAF Codon 600 Mutation and MLH1 Promoter Methylation
Preferred screening test for Lynch syndrome in individuals with colorectal cancer.
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation
Preferred reflex screening test for Lynch syndrome in non-colorectal cancer tumors (eg, endometrial carcinoma)
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
Recommended reflex test for differentiating between Lynch syndrome and sporadic colorectal cancer in tumors showing loss of MLH1. If no BRAF mutation is detected, MLH1 promoter methylation is evaluated.
2002498 BRAF Codon 600 Mutation Detection by Pyrosequencing
Evaluate suspected Lynch syndrome. Use to predict effectiveness of therapies targeting the EGFR pathway.
2002499 MLH1 Promoter Methylation, Paraffin
Distinguishes between Lynch syndrome and sporadic tumors with loss of MLH1.
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR— Tumor and normal tissue.
First-line screening test for Lynch syndrome. Directs additional molecular diagnostic testing for Lynch syndrome.
2001728 HNPCC/Lynch Syndrome Deletion/Duplication
This is a second tier test and requires approval from an ARUP Genetic Counselor, (800) 242-2787, ext. 2141, before ordering.
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/ Duplication
Detect germline MLH1 mutations. Use in MMR-deficient carcinoma with suggestive IHC (loss of MLH1 and PMS2 protein), absence of BRAF codon 600 mutation, and normal MLH1 methylation studies.
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/ Duplication
Detect germline MSH2 mutations. Use in MMR-deficient carcinoma with suggestive IHC (loss of MSH2 and MSH6 protein). Detects large MSH2 deletions and three prime EPCAM deletions.
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/ Duplication
Detect germline MSH6 mutations. Use in MMR-deficient carcinoma with suggestive IHC (isolated loss of MSH6 protein).
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/ Duplication
Detect germline PMS2 mutations. Use in MMR-deficient carcinoma with suggestive IHC (isolated loss of PMS2 protein).
2013449 Gastrointestinal Hereditary Cancer, Sequencing and Deletion/ Duplication 16 genes
Confirm a diagnosis of hereditary gastrointestinal (GI) cancer in individuals with a personal or family history of GI cancer and/or polyposis.
2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes
Order to confirm a diagnosis of a hereditary cancer syndrome in an individual with a personal or family history that could be consistent with features of more than one cancer syndrome.
2001961 Familial Mutation, Targeted Sequencing
Consultation with a genetics counselor is advised. Order to detect a mutation previously identified in a family member.
2002498 BRAF Codon 600 Mutation Detection by Pyrosequencing
Evaluate suspected Lynch syndrome. Use to predict effectiveness of therapies targeting the EGFR pathway.
0040248 KRAS Mutation Detection
Predicts response to anti-EGFR and MAPK pathway therapies in a variety of malignancies (eg, colorectal and lung cancer).
2003123 NRAS Mutation Detection by Pyrosequencing
Predicts response to anti-EGFR and MAPK pathway therapies in a variety of malignancies (eg, melanoma and colorectal cancer).
2011616 Colon Cancer Gene Panel, Somatic
Indicated for individuals with metastatic colorectal cancer to guide treatment with anti-EGFR monoclonal antibodies (ie, cetuximab and panitumumab). Detects mutations in BRAF, KRAS, NRAS, extended KRAS, and PIK3CA.
2007991 Solid Tumor Mutation Panel by Next Generation Sequencing
Aids in therapeutic decisions for solid tumor cancers. Does not detect translocations.
2013906 Epi proColon
The Epi proColon test is indicated to screen adults of either sex, 50 years or older, defined as average risk for CRC, who have been offered and have a history of not completing CRC screening. Tests that are available and recommended in the USPSTF 2008 CRC screening guidelines should be offered and declined prior to offering the Epi proColon test.
2007190 Occult Blood, Fecal by Immunoassay


Additional Resources

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