Uterine Cancer

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Test Details

  • The family history is suggestive of a predisposition to hereditary endometrial cancer. Although the Lynch syndrome-associated genes are thought to account for a significant proportion of such cases, there are several other genes that cause an increased risk of endometrial cancer. The OncogeneDx Endometrial Cancer panel includes analysis of the Lynch syndrome genes as well as 6 other genes associated with increased endometrial cancer risk. Thus, the OncogeneDx Endometrial Cancer panel offers increased clinical sensitivity compared to testing only for the Lynch syndrome-associated genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering testing for the Lynch syndrome-associated genes followed by additional genetic testing).
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of endometrial cancer, this may be associated with a cancer syndrome such as Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) or PTEN Hamartoma Tumor Syndrome (PTEN).
  • Genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition and all results have been negative. OncogeneDx includes genes whose role in endometrial cancer predisposition has been described recently in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


81211x1, 81292x1, 81295x1, 81298x1
* For price inquiries please email zebras@genedx.com


  1. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47. (PMID 23135763)
  2. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010;105(11):2449-56. (PMID 20531397)
  3. Hampel et al. Comment on: screening for Lynch Syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603. (PMID 17909073)
  4. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  5. NCCN Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  6. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  7. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  9. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].
  11. Setiawan VW et al. Type I and II Endometrial Cancers: Have They Different Risk Factors? J Clin Oncol. 2013 Jul 10;31(20):2607-18. (PMID 23733771)
  12. Tutlewska K, Lubinski J, and Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hered Cancer Clin Pract. 2013;11(1):9. (PMID 23938213)
  13. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)