The Sol Goldman Pancreatic Cancer Research Center

The National Familial Pancreas Tumor Registry

Frequently Asked Questions

  1. What causes Pancreatic Cancer?
    There are several factors that increase risk of pancreatic cancer, including cigarette smoking, increasing age, chronic pancreatitis, diabetes and obesity. In addition to these risk factors, individuals who have a family history of pancreatic cancer, as well as some other cancers, are at an increased risk of inheriting a mutation in a gene that places them at a higher risk of developing pancreatic cancer. For more information, see our recent blog post "What causes pancreatic cancer?" on the causes of pancreatic cancer.

  2. What is Familial Pancreatic Cancer?
    Familial pancreatic cancer occurs when two or more close relatives have both been diagnosed with pancreatic cancer (a parent and child or two siblings). About 5-10% of pancreatic cancer patients have another close relative who has also developed pancreatic cancer. The relatives of patients with familial pancreatic cancer have about a 9-fold increased risk of developing pancreatic cancer themselves (i.e. their risk of pancreatic cancer is 9 times higher than someone without such a family history.) Individuals with familial pancreatic cancer are more likely to have an inherited mutation in a gene that increases their risk of developing pancreatic cancer. However, shared environmental exposures such as cigarette smoking and poor diet can also cause pancreatic cancer to run in some families.
  3. What are the genes that are associated with pancreatic cancer?
    Most of the genes responsible for the clustering of pancreatic cancer are unknown. However, several genes have been discovered that account for about 10-15% of the clustering of pancreatic cancer in families.
    BRCA2: The BRCA2 gene got its name because it was the 2nd breast cancer gene identified. The team at Johns Hopkins, and others, has shown that 6%-12% of familial pancreatic cancer patients have an inherited defect in the BRCA2 gene. One particular defect in the BRCA2 gene (a mutation called 6174delT) is found in about 1% of individuals of Ashkenazi Jewish descent. This mutation may explain the higher rate of pancreatic cancer observed this group. It is estimated that the lifetime risk of pancreatic cancer in carriers of a BRCA2 gene mutation may be as high as 10%. Clinical testing is available for BRCA2. See below for more information on genetic testing.

    PALB2: The PALB2 gene's official name is "partner and localizer of BRCA2". This gene contains the information to make the PALB2 protein. This protein works together with the BRCA2 protein to repair damaged DNA. The PALB2 protein is believed to stabilize the BRCA2 protein, allowing the BRCA2 protein to repair damaged DNA. We have recently discovered that about 3% of patients with familial pancreatic cancer have inherited mutations in the PALB2 gene. At this time, the lifetime risk of pancreatic cancer among individuals who inherit a PALB2 gene mutation is unclear, but studies are underway to better understand the risk of pancreatic cancer associated with mutations in this gene. Mutations in the PALB2 gene have also been associated with an increased risk of breast cancer. Clinical testing for PABL2 is currently available.
    p16: The CDKN2A gene contains the sequence for two proteins, p16 and p14arf. Inherited mutations in the p16 protein are associated with an increased risk of pancreatic cancer and melanoma. Individuals with inherited mutations in the CDKN2A/p16 gene have a very high risk of melanoma and often come from families in which several individuals have developed melanoma. Individuals with inherited mutations in the CDKN2A/p16 gene also have a 15-35% lifetime risk of developing pancreatic cancer. Mutations in the CDKN2A/p16 genes are very rare and are thought to account for less than 1% of familial pancreatic cancer. Clinical testing for p16 is available, see below.

    STK11/LKB1: Inherited mutations in the serine/threonine kinase 11 gene, STK11, have been associated with Peutz-Jeghers syndrome, which is characterized by a special kind of polyp of the gastrointestinal tract and freckles (patches of hyper-pigmentation) on the inside of the mouth and lips. Individuals with Peutz-Jeghers syndome have a very high risk of developing pancreatic cancer, about 35% by age 60. Mutations in the STK11 gene are very rare and account for less than 1% of familial pancreatic cancer. Clinical testing for STK11 is available.

    PRSS1 and SPINK1: The genes PRSS1 and SPINK1 are both associated with hereditary pancreatitis. Individuals with hereditary pancreatitis develop severe, chronic inflammation of the pancreas at a young age, typically in their teenage years. Individuals with hereditary pancreatitis are at a very high-risk of developing pancreatic cancer, about 40% in their lifetime. Mutations in these gene are extremely rare and account for <1/2% of familial pancreatic cancer. Clinical testing for PRSS1 and SPINK1 is available.

  4. I have a family history of pancreatic cancer, what can I do?
    Currently, there are no established clinical guidelines for the management of individuals with a family history of pancreatic cancer. Certainly, we can give some common-sense advice. First, it is important that you discuss your family health history with your doctor. Second, if you have a family history of pancreatic cancer, and even if you do not, you should quit smoking if you currently do smoke, you should try to maintain a healthy body weight through diet and exercise, and the American Cancer Society recommends that we should all eat five servings of fruits and vegetables a day. Third, if you have a family history of pancreatic cancer you may also wish to consider joining a research study such as the National Familial Pancreas Tumor Registry at Johns Hopkins (link here to the NFPTR page). This registry is aimed at better understanding the causes of pancreatic cancer and why pancreatic cancer runs in some families. Finally, there are also clinical research trials, such as the CAPS ("cancer of the pancreas screening") studies, which evaluate the effectiveness of early detection screening for individuals with a family history of pancreatic cancer.

  5. Can I get tested for these genes?
    Clinical genetic testing is a medical test and should be conducted only after consulting with a trained genetic counselor and your health care providers. During a genetic counseling visit, the counselor and/or physician will review the family history, determine if it looks hereditary, attempt to figure out your lifetime risk for pancreatic cancer, discuss genetic testing options (if appropriate) and outline available management options. To find a genetic counselor near you visit http://www.nsgc.org/resourcelink.cfm. After meeting with a genetic counselor, you may choose to undergo clinical genetic testing.

  6. What kind of testing was performed in the recent PALB2 study?
    In this study, research testing consisting of sequencing the protein-coding portions of this gene was conducted.

  7. How is research testing different from clinical testing?
    Clinical tests are tests ordered by physicians and/or other health care providers with the purpose of guiding medical care. Because clinical treatment decisions are based upon these tests, the federal government tightly regulates all clinical tests to make sure only laboratories with strict quality control procedures offer these tests. ONLY TESTS THAT MEET THESE REGULATIONS ARE CLINICALLY APPROPRIATE. If you are interested in learning if clinical genetic testing is right for you please contact a genetic counselor.

Research testing refers to experiments performed in a research laboratory. There is no regulation of testing performed in these laboratories, and as such, these tests do not meet the same quality control standards as clinical testing. Research test results are typically not given to study participants.

How you can help: If you or your family member has been diagnosed with pancreatic cancer you can join our research study. You can also support pancreatic cancer research by making a donation to the pancreatic cancer research group at Johns Hopkins.