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Lynch syndrome        



Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is a type of inherited cancer of the digestive tract, particularly the colon and rectum. People with Lynch syndrome have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with this disorder also have a high risk of cancer of the endometrium and ovaries. Hereditary nonpolyposis colorectal cancer (HNPCC) is divided into Lynch syndrome I (familial colon cancer) and Lynch syndrome II (HNPCC associated with other cancers of the gastrointestinal [GI] or reproductive system).

Variations in the MLH1, MSH2, MSH6, PMS2 and EPCAM genes increase the risk of developing Lynch syndrome. All of these genes are involved in the repair of mistakes made when DNA is copied  in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Abnormalities in these genes predispose individuals to cancer, but not all people who carry these mutations develop cancerous tumors.

We provide testing for the most common genes associated with Lynch syndrome. Additional genes can be added to the panel at no extra cost.

Type OMIM Gene Description







MSH2 Frequency of familial mutations 60%




Frequency of familial mutations 30%

HNPCC5 614350 MSH6

Frequency of familial mutation 7-10%




Deletions in this gene cause silencing of the MSH2 gene which leads to a clinical presentation similar to Lynch syndrome.






Mutations in this gene reported in 2% of families with Lynch syndrome. Some mutations an cause a variant of Lynch syndrome called Turcot syndrome.

Methodology: Next-generation sequencing

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code C20 neoplasm of rectum/C18.4 neoplasm of colon

Test Requisition: Sequencing Requisition

MLH1 CPT Code: 81292 Cost: $700.00

MSH2 CPT Code: 81295 Cost: $700.00

MSH6 CPT Code: 81298 Cost: $700.00

PMS2 CPT Code: 81317 Cost: $700.00

EPCAM CPT Code: 81479 Cost: $700.00

Panel CPT Codes: 81292, 81295, 81298,81317, 81479 Cost: $3500.00

Sequencing of known familial mutations Cost: $396.00 for each mutation

Turn-around-time: 5-6 weeks

Specimen Requirements

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1. Kastrinos F, Mukherjee B, Tayob N, et al. (2009). "Risk of pancreatic cancer in families with Lynch syndrome". JAMA 302 (16): 1790–5

2. Bellizzi AM, Frankel WL (2009). "Colorectal cancer due to deficiency in DNA mismatch repair function: a review". Advances in Anatomic Pathology 16 (6): 405–417.

3. Munoz JC, LamHereditary Colorectal Cancer Background. From Medscape. By Juan Carlos Munoz and Louis R Lambiase. Updated: Oct 31, 2011

4. Fishel R, Lescoe M, Rao M, Copeland N, Jenkins N, Garber J, Kane M, Kolodner R (1993). "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer". Cell 75 (5): 1027–38.

5. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. (1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer". Nature genetics 17 (3): 271–2.

6. Bronner C. E., Baker S. M., Morrison P. T., Warren G., Smith L. G., Lescoe M. K., et al. (1994). "Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer". Nature 368: 258-261.

7. Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., et al. (2011). "Recurrence and variability of germline EPCAM deletions in Lynch syndrome". Hum. Mutat. 32: 407-414.

8. Mu, W, et al. "Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing". J Mol Diagn. 2016. 18(6):923-932.




Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117

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