Invitae Pancreatic Cancer Panel


Test description

The Invitae Pancreatic Cancer Panel analyzes genes that are associated with a hereditary predisposition for pancreatic cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for pancreatic cancer.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Primary panel (20 genes)


APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
CDKN2A: Analysis supports interpretation of the p16 protein only
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes (3 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


Add-on chronic pancreatitis genes (5 genes)

Chronic pancreatitis has been reported as a risk factor for pancreatic cancer. Depending on the clinical presentation of the patient, clinicians may wish to broaden analysis by including genes that are associated with hereditary pancreatitis. These genes can be added at no additional charge.


CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

Alternative tests to consider

These genes can also be ordered as part a broader, cross-cancer, multi-gene panel. Depending on the individual’s clinical and family history, this broader panel may be appropriate. This broader panel can be ordered at no additional charge.

  • Familial adenomatous polyposis (FAP)
  • Hereditary breast and ovarian cancer syndrome (HBOC)
  • Juvenile polyposis syndrome (JPS)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome
  • Melanoma-pancreatic cancer syndrome (M-PCS)
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Neurofibromatosis type 1 (NF1)
  • Peutz-Jeghers syndrome (PJS)
  • Tuberous sclerosis complex (TSC)
  • Von Hippel-Lindau syndrome (VHL)

Pancreatic cancer is the fourth-leading cause of cancer-related deaths in the United States, with most cases occurring in the seventh decade of life. Most of these cases occur sporadically and are not inherited; however, approximately 5%-10% of pancreatic cancer is hereditary and due to a pathogenic variant in a disease-causing gene.

There are two main types of pancreatic cancer: cancer of the exocrine pancreas and pancreatic neuroendocrine tumors. Cancer of the exocrine pancreas is often referred to as “pancreatic adenocarcinoma” and accounts for 95% of pancreatic tumors. Pancreatic neuroendocrine tumors (PanNET), also called pancreatic islet cell tumors, originate from endocrine cells and account for less than 5% of all pancreatic tumors. It is important to note that PanNETs are not the same as pancreatic adenocarcinomas (the much more common type of pancreatic cancer). PanNETs differ in their pathology, prognosis, and medical management.

This panel analyzes the genes most commonly associated with an increased risk for pancreatic cancer—both endocrine and exocrine. Some of these genes are also associated with an increased risk of developing other cancer types, including including melanoma, breast, ovarian, and colon, among others.

Individuals with a pathogenic variant in one of these genes have an increased risk of malignancy compared to the average person, but not everyone with such a variant will actually develop cancer. Further, the same variant can present differently, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may benefit most patients who are found to have a pathogenic variant.

For gene-associated cancer risks, download our Cancer risk poster.

All of the genes on this panel have autosomal dominant inheritance for hereditary breast cancer. Several of these genes also result in clinically distinct autosomal recessive conditions:

  • BRCA2, PALB2, and FANCC are associated with Fanconi anemia.
  • MLH1, MSH2, MSH6, EPCAM, and PMS2 are associated with constitutional mismatch repair deficiency (CMMR-D).
  • ATM is associated with ataxia-telangiectasia.
  • VHL is associated with familial erythrocytosis type 2.

Multi-gene analysis for pancreatic cancer may be considered in individuals with the following:

  • a personal history of pancreatic cancer, especially if diagnosis is at an unusually young age
  • more than one primary diagnosis of cancer in an individual with pancreatic cancer (e.g., pancreatic and colon cancer, pancreatic cancer and melanoma)
  • two or more family members on the same side of the family with pancreatic cancer
  • three or more family members with pancreatic and at least one other type of cancer

The American College of Medical Genetics has published guidelines on when to consider testing for hereditary pancreatic cancer syndromes:

There are also some common general features suggestive of a family with hereditary cancer syndrome. These include:

  • cancer diagnosed at an unusually young age
  • different types of cancer that have occurred independently in the same person
  • cancer that has developed in both organs of a set of paired organs (e.g., both kidneys, both breasts)
  • several close blood relatives that have the same type of cancer
  • unusual cases of a specific cancer type (e.g., breast cancer in a man)

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Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Assay notes

CFTR: Analysis includes the polymorphic TG/T tract within intron 10 as well as known promoter, 5’ UTR, 3’UTR, and intronic HGMD variants (including, but not limited to, c.3718-2477C>T, also known as 3849+10kbC>T and c.3717+12191C>T in the literature). Variants in these regions will be interpreted and only reported if classified as likely pathogenic or pathogenic. Polymorphisms and uncertain variants will be reported upon request.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
APC* NM_000038.5
ATM NM_000051.3
BMPR1A* NM_004329.2
BRCA1 NM_007294.3
BRCA2 NM_000059.3
CASR NM_000388.3
CDK4 NM_000075.3
CDKN2A* NM_000077.4, NM_058195.3
CFTR* NM_000492.3
CTRC NM_007272.2
EPCAM* NM_002354.2
FANCC NM_000136.2
MEN1 NM_130799.2
MLH1* NM_000249.3
MSH2* NM_000251.2
MSH6 NM_000179.2
NF1 NM_000267.3
PALB2 NM_024675.3
PALLD NM_001166110.1
PMS2 NM_000535.5
PRSS1 NM_002769.4
SMAD4 NM_005359.5
SPINK1 NM_003122.4
STK11 NM_000455.4
TP53* NM_000546.5
TSC1 NM_000368.4
TSC2 NM_000548.3
VHL NM_000551.3

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
CDKN2A: Analysis supports interpretation of the p16 protein only
CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.