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HelpTest ID: PANCP Hereditary Pancreatic Cancer Panel, Varies
Ordering Guidance
This test assesses for hereditary forms of pancreatic adenocarcinoma and not other pancreatic lesions such as pancreatic neuroendocrine tumors. For genetic testing for pancreatic neuroendocrine tumors, see ENDCP / Hereditary Endocrine Cancer Panel, Varies.
This test does not analyze genes associated with hereditary pancreatitis. For genetic testing for pancreatitis, see HPANP / Hereditary Pancreatitis Gene Panel, Varies.
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Testing minors for adult-onset predisposition syndromes is discouraged by the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors.
Shipping Instructions
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (Sodium heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)
3. If not ordering electronically, complete, print, and send one of the following with the specimen:
-Oncology Test Request (T729)
Useful For
Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome
Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated risks
Identifying genetic variants associated with increased risk for pancreatic cancer, allowing for predictive testing and appropriate screening of at-risk family members
Therapeutic eligibility with poly adenosine diphosphate-ribose polymerase (PARP) inhibitors based on certain gene alterations (eg, BRCA1, BRCA2)
Method Name
Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)
Reporting Name
Hereditary Pancreatic Cancer PanelSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Saliva: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Pancreatic cancer occurs in approximately 1.6% of individuals.(1) About 10% of these pancreatic cancers are caused by a hereditary predisposition that may also increase risk for other types of cancer.(2) In rare cases, individuals with a personal or family history of pancreatic cancer may be at increased risk of cancer due to a hereditary cancer syndrome. Evaluation of the genes on this panel may be useful to determine cancer risk, surveillance recommendations, and targeted treatments.(2,3)
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A few of the most common hereditary pancreatic cancer syndromes are hereditary breast and ovarian cancer (HBOC) syndrome caused by variants in the BRCA1 and BRCA2 genes,(2,4) Lynch syndrome caused by variants in the MLH1, MSH2, MSH6, PMS2 mismatch-repair genes and deletions of the EPCAM gene, and familial atypical multiple mole melanoma syndrome (FAMMM) caused by variants in the CDKN2A gene.(2-5) Individuals with Peutz-Jeghers syndrome, caused by alterations within the STK11 gene, also have an increased risk of developing pancreatic cancer.(6)
Other genes are also known to cause hereditary pancreatic cancer. The risk of developing cancer associated with these syndromes varies. Some individuals with a disease-causing variant in one of these genes develop multiple primary cancers.(2)
The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with hereditary pancreatic cancer syndromes.(2,3,7)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(8) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Howlader N, Noone AM, Krapcho M, et al. SEER Cancer Statistics Review. 1975-2018. National Cancer Institute. Updated April 2021. Accessed September, 11, 2024. Available at: https://seer.cancer.gov/csr/1975_2018
2. Daly MB, Pal T, Berry M, et al. Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102
3. Gupta S, Provenzale D, Llor X, et al. NCCN guidelines insights: Genetic/familial high-risk assessment: colorectal, version 2.2019. J Natl Compr Canc Netw. 2019;17(9):1032-1041
4. Petrucelli N, Daly MB, Pal T, et al. BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. In: Adams MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1998. Updated September 21, 2023. Accessed September 11, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1247/
5. Idos G, Valle L. Lynch syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated February 4, 2021. Accessed September 11, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1211/
6. McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated September 2, 2021. Accessed September 11, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1266/
7. Smith RA, Andrews KS, Brooks D, et al. Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin. 2019;69(3):184-210
8. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
14 to 21 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81432
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PANCP | Hereditary Pancreatic Cancer Panel | 106782-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614779 | Test Description | 62364-5 |
| 614780 | Specimen | 31208-2 |
| 614781 | Source | 31208-2 |
| 614782 | Result Summary | 50397-9 |
| 614783 | Result | 82939-0 |
| 614784 | Interpretation | 69047-9 |
| 614785 | Resources | 99622-3 |
| 614786 | Additional Information | 48767-8 |
| 614787 | Method | 85069-3 |
| 614788 | Genes Analyzed | 48018-6 |
| 614789 | Disclaimer | 62364-5 |
| 614790 | Released By | 18771-6 |
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 12 genes associated with pancreatic cancer: ATM, BRCA1, BRCA2, CDKN2A, EPCAM (copy number variants only), MLH1, MSH2, MSH6, PALB2, PMS2, STK11, and TP53. For more information see Method Description and Targeted Genes and Methodology Details for Hereditary Pancreatic Cancer Panel.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary pancreatic cancer.
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