Hereditary Pancreatic Cancer
The Pancreatic Cancer Comprehensive Panel examines 22 genes associated with an increased risk for hereditary pancreatic cancer. This test includes both well-established pancreatic cancer susceptibility genes, as well as candidate genes with limited evidence of an association with pancreatic cancer.
Who is this test for?
Patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome. Red flags for hereditary pancreatic cancer could include the onset of cancer prior to the age of 50 years, more than one primary cancer in a single person, and multiple affected people within a family. This test is appropriate for patients with both isolated pancreatic cancer, as well as those that may have other clinical findings suggestive of a genetic syndrome. Other cancers that can sometimes co-occur in families with a syndrome that increases the risk for pancreatic cancer could include melanoma and breast, ovarian, colorectal, gastric, or thyroid cancer, among others. After consideration of a patient’s clinical and family history, this testing may be appropriate for some pediatric patients. (If there are specific genes that you do NOT want to be included, please indicate this on the test requisition form.) This test is designed to detect individuals with a germline pathogenic variant and is not validated to detect mosaicism below the level of 20%. It should not be ordered on tumor tissue.
What are the potential benefits for my patient?
Patients identified with hereditary pancreatic cancer can benefit from increased surveillance and preventative steps to better manage their risk for cancer. Information obtained from candidate gene testing may potentially be helpful in guiding clinical management in the future. Also, if an inherited susceptibility is found, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.
APC, ATM, BMPR1A, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, FANCC, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL ( 22 genes )
Coverage: 99% at 50x
Specimen Requirements: Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
- - Sequencing
- - Del/Dup
- - Rush / STAT
- - Exclude VUS
Turnaround Time: 2 - 3 weeks
Cost: Call for details
NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.
Test results and variant interpretations are based on the proper identification of the submitted specimen and the use of correct human reference sequences at the queried loci. In very rare instances, errors may result due to mix-up or co-mingling of specimens. Positive results do not imply that there are no other contributions, genetic or otherwise, to the patient's phenotype, and negative results do not rule out a genetic cause for the indication for testing. Result interpretation is based on the collected information and Alamut annotation available at the time of reporting. This assay is not designed or validated for the detection of mosaicism. DNA alterations in regulatory regions or deep intronic regions (greater than 20bp from an exon) will not be detected by this test. There are technical limitations on the ability of DNA sequencing to detect small insertions and deletions. Our laboratory uses a sensitive detection algorithm, however these types of alterations are not detected as reliably as single nucleotide variants. Rarely, due to systematic chemical, computational, or human error, DNA variants may be missed. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the confounding contribution of pseudogene sequences or other highly-homologous sequences, sometimes these may still interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Deletion/duplication analysis can identify alterations of genomic regions which are a single exon in size. When novel DNA duplications are identified, it is not possible to discern the genomic location or orientation of the duplicated segment, hence the effect of the duplication cannot be predicted. Where deletions are detected, it is not always possible to determine whether the predicted product will remain in-frame or not. Unless otherwise indicated, in regions that have been sequenced by Sanger, deletion/duplication analysis has not been performed. Patients with Bone Marrow Transplants: DNA extracted from cultured fibroblasts should be submitted instead of blood/saliva/buccal samples from individuals who have undergone allogeneic bone marrow transplant and from patients with hematologic malignancy.