Endometrial Cancer

Forms and Documents

Test Details

APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SMAD4, STK11, TP53, VHL, XRCC2
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of ovarian cancer, this may be associated with a breast/ovarian cancer syndrome such as BRCA1 or BRCA2 or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM). Thus, the OncogeneDx Comprehensive Cancer panel offers increased clinical sensitivity compared to testing only for the BRCA genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA testing followed by additional genetic testing).
  • The family history includes a number of cancer cases, but they are of several different types. Therefore, the pattern does not seem to fit any one hereditary cancer syndrome in particular.
  • Some 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 recently described cancer predisposition genes in addition to genes associated with classic hereditary cancer syndromes.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B275
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81203x1, 81292x1, 81294x1, 81295x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  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. National Cancer Institute at the National Institutes of Health. What you need to know about: cancer; risk factors. (URL: http://www.cancer.gov/cancertopics) [July 2013 accessed].
  3. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  4. NCCN Guidelines. Colorectal Cancer Screening. Version 1.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  5. NCCN Guidelines. Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  6. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  7. 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)
  8. 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].

Forms and Documents

Test Details

BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53
  • 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

Ordering

B344
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  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)

Forms and Documents

Test Details

APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL
  • The differential diagnosis includes various hereditary cancer syndromes. For example, if the family history consists of multiple cases of ovarian cancer, this may be associated with a breast/ovarian cancer syndrome such as BRCA1 or BRCA2 or Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM). Thus, the OncoGeneDx High/Moderate Risk Panel offers increased clinical sensitivity compared to testing only for the BRCA genes. Furthermore, panel testing is more cost effective than stepwise genetic testing (for example, ordering BRCA testing followed by additional genetic testing).
  • The family history includes a number of cancer cases, but they are of several different types. Therefore, the pattern does not seem to fit any one hereditary cancer syndrome in particular.
  • Some genetic testing has already been ordered due to a family history suggestive of a hereditary cancer predisposition, and results have been negative. OncoGeneDx High/Moderate Risk Panel includes three recently described, but well-studied, cancer predisposition genes (ATM, CHEK2, PALB2) in addition to genes associated with classic hereditary cancer syndromes, and may allow for detection of a causative mutation after initial testing is uninformative.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B751
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81203x1, 81292x1, 81294x1, 81295x1
Yes
No
* For price inquiries please email zebras@genedx.com

References

  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. National Cancer Institute at the National Institutes of Health. What you need to know about: cancer; risk factors. (URL: http://www.cancer.gov/cancertopics) [July 2013 accessed].
  3. NCCN Guidelines.Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  4. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed].
  5. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  6. 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)
  7. 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].

Forms and Documents

Test Details

MSH2
  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above. Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • PCR & Electrophoresis

Ordering

J006
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

N/A
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Baglietto L et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb;102(3):193-201. (PMID: 20028993)
  2. Bonadona V et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011 Jun;305(22):2304-10. (PMID: 21642682)
  3. Canto M 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)
  4. Cunningham JM et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001 Oct;69(4):780-90. (PMID: 11524701)
  5. Durno CA et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID: 20531397)
  6. Li-Chang HH et al. Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype. J Clin Pathol. 2013 Jul;66(7):631-3. (PMID: 23454724)
  7. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Quehenberger F et al. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet.2005 Jun;42(6):491-6. (PMID: 21642682)
  9. Rhees J et al. Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population. Fam Cancer. 2014 Jun;13(2):219-25. (PMID: 24114314)
  10. Senter L et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. (PMID: 18602922)
  11. Vasen HF et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996 Apr;110(4):1020-7. (PMID: 8612988)
  12. Weissman SM et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.J Genet Couns. 2011 Feb;20(1):5-19. (PMID: 20931355)
  13. Wimmer K et al. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B749
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

Varies by Gene
Yes
Yes
* For price inquiries please email zebras@genedx.com