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Molecular Testing for Inherited Pancreatic Cancer

Last updated July 27, 2019

Approved by: Maulik P. Purohit MD, MPH

Molecular Testing for Inherited Pancreatic Cancer is a genetic test that may aid in the diagnosis of Inherited Pancreatic Cancer. The lab test results may also be subsequently useful in taking appropriate treatment decisions.

What are other Names for this Test? (Equivalent Terms)

  • Gene Mutation Analysis for Inherited Pancreatic Cancer
  • Test for Molecular Diagnosis of Inherited Pancreatic Cancer

What is Molecular Testing for Inherited Pancreatic Cancer? (Background Information)

  • Molecular Testing for Inherited Pancreatic Cancer is a genetic test that may aid in the diagnosis of Inherited Pancreatic Cancer. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Inherited pancreatic cancer is a general term that is used to describe the occurrence of an abnormally high rate of pancreatic cancers in certain families. It constitutes about 5-10% of all pancreatic cancers diagnosed
  • Families are considered to have Inherited Pancreatic Cancer, if at least two first-degree relatives (parents, brothers, sisters, and/or children), or at least three close family members have pancreatic cancer (grandparents, grandchildren, aunts, uncles, nieces, nephews, and/or cousins)
  • Having a certain type of gene mutation or a syndrome may increase the risk of Inherited or Familial Pancreatic Cancer, which is inherited in an autosomal dominant pattern
  • The pancreas can be functionally divided into the exocrine (non-hormone producing) and endocrine (hormone-secreting) parts. The type of tumors developing from these parts may vary in their rate of growth and malignancy

Inherited Pancreatic Cancer is caused by heritable genetic mutations. Currently, studies indicate that defects in the following genes may be associated with the cancer:

  • RAF1 - causes Noonan syndrome and associated with several types of cancer
  • p53 - is the most commonly mutated gene in many human cancers, and plays a role in tumor suppression
  • BRCA1, BRCA2 and PALB2 - known to cause hereditary breast and ovarian cancers  
  • MLH1, MLH3, MSH2, MHS6, TGFBR2, EPCAM, PMS1 and PMS2 - associated with Lynch syndrome
  • ATM - associated with development of breast and other types of cancer
  • CDKN2A - which causes familial atypical multiple mole melanoma syndrome
  • APC - causes familial adenomatous polyposis, and is associated with other types of cancers
  • PRSS1 - is associated with familial pancreatitis 
  • STK11, also known as LKB1 - causes Peutz-Jeghers syndrome 
  • VHL - associated with Von Hippel-Lindau syndrome 
  • MEN1 - causes multiple endocrine neoplasia 1
  • NF1 - causes neurofibromatosis type 1

The above genetic abnormalities can be detected using molecular studies, which may play a significant role in identifying the tumor type, and in some cases, helping the healthcare provider take appropriate treatment decisions.

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization technique, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Whole genome sequencing
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for Inherited Pancreatic Cancer may vary from one laboratory to another.

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the Molecular Testing for Inherited Pancreatic Cancer?

Molecular Testing for Inherited Pancreatic Cancer is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of Inherited Pancreatic Cancer
  • To assess the risk for an unaffected family member developing pancreatic cancer, if a close relative has been diagnosed with the disease 
  • To distinguish other tumors/conditions that have similar histological features, when examined by a pathologist under the microscope
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen Collected for Molecular Testing for Inherited Pancreatic Cancer?

Following is the specimen collection process for Molecular Testing for Inherited Pancreatic Cancer:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample on which the test is performed may include:

    • Fresh tumor tissue during biopsy
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility


  • In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

Cost of Molecular Testing for Inherited Pancreatic Cancer:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the Molecular Testing for Inherited Pancreatic Cancer Result?

The significance of Molecular Testing for Inherited Pancreatic Cancer is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of Inherited Pancreatic Cancer
  • The result can help exclude other tumors with similar histological features
  • It can help determine the prognosis of the patient
  • In some cases, the test results may help in taking treatment decisions

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test
  • Additional mutations are still being discovered in many of these tumors. This may further contribute towards tumor diagnosis and treatment. Please consult with your healthcare provider for any information updates

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 5, 2017
Last updated: July 27, 2019