Genetics of Pancreatic Cancer

Overview | Causes | Symptoms | Genetics | Diagnosis | Treatment | Prognosis | Coping

Inherited gene mutations play a role in up to 15% of all cancers of the pancreas. Family members of patients with pancreatic cancer may have a dramatically increased risk of developing the disease. It is now known that at least six distinct cancer syndromes account for a portion of inherited pancreatic cancers.

The first column in the chart below represents the conditions currently linked to pancreatic cancer. The second column represents the gene mutation(s) responsible for causing that condition. The third column describes the quantifiable increase in the relative risk of developing pancreatic cancer caused by these conditions and mutations. For example, if you or someone in your family has had breast or ovarian cancer caused by a BRCA1 or BRCA2 mutation, your risk of developing pancreatic cancer is 10 times that of someone without a family history of breast or ovarian cancer. Read more about BRCA mutations and pancreatic cancer here »

A family history of pancreatic cancer not related to these inherited gene mutations is also significant and increases the risk of developing pancreatic cancer at least fivefold. 

It is important to note that having one of more of these conditions does not mean you will definitely develop pancreatic cancer. Also, many people who do develop pancreatic cancer do not have any of the conditions listed above. If you believe you are at increased risk for developing pancreatic cancer, it is important to discuss this with your doctor and to schedule a comprehensive medical visit including risk stratification.

Learn more about the Muzzi Mirza Pancreatic Cancer Prevention & Genetics Program of the Pancreas Center of Columbia University.

Request an Appointment or call us at 212.305.9467.

Pancreatic Cancer and BRCA Gene

What are BRCA Genes?

BRCA genes are genes that play an important role in maintaining the integrity of the DNA in each cell. If these genes are altered (mutated) such that they don't function properly, a person's cells are more likely to fail to appropriately correct damage to DNA which, in time, leads to cancer. Individuals with a mutation in the BRCA 1 or 2 gene have an increased risk of developing cancers of the breast, ovaries, and several other organs.

Pancreatic Cancer Risk Associated with BRCA Mutations

Many people are unaware that BRCA gene mutations increase the risk of pancreatic cancer. Research conducted by faculty at the Pancreas Center, published in 2014, found that approximately 10% of pancreatic cancers in our center are associated with breast ovarian cancer syndromes caused by BRCA 1 and 2 mutations. Others have found the link between pancreatic cancer and BRCA2 mutations to be as high as 19%.** In 2015, Holter et al. analyzed BRCA mutations in patients with pancreatic cancer and concluded that patients with pancreatic cancer should be tested for BRCA mutations more broadly than current guidelines suggest.***

Am I at Risk?

The Pancreas Center recommends genetic testing for BRCA mutations for people with any of the following risk factors:

  • Ashkenazi Jewish ancestry
  • Norwegian ancestry
  • Dutch ancestry
  • Icelandic ancestry
  • Family members with known BRCA gene mutations
If you believe you are at increased risk for developing pancreatic cancer, click here to schedule a comprehensive medical visit at the Muzzi Mirza Pancreatic Cancer Prevention & Genetics Program or contact us at 212.305.9337


* Data from the National Cancer Institute,

** Julia Carnevale and Alan Ashworth. Assessing the Significance of BRCA1and BRCA2 Mutations in Pancreatic Cancer. Published online before print May 18, 2015, doi:10.1200/JCO.2015.61.6961JCO May 18, 2015,

Couch FJ, Johnson MR, Rabe KG, et al. (2007) The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 16:342–346.

Hahn SA, Greenhalf B, Ellis I, et al. (2003) BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst95:214–221.

Murphy KM, Brune KA, Griffin C, et al. (2002) Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: Deleterious BRCA2 mutations in 17%.Cancer Res 62:3789–3793.

Lucas, A.L., Shakya, R., Lipsyc, M.D., Mitchel, E.B., Kumar, S., Hwang, C., Deng, L., Devoe, C., Chabot, J.A., Szabolcs, M., Ludwig, T., Chung, W.K., Frucht, H. High Prevalence of BRCA1 and BRCA2 Germline Mutations with Loss of Heterozygosity in a Series of Resected Pancreatic Adenocarcinoma and Other Neoplastic Lesions. Clinical Cancer Research. 19(13):3396-3403, 2013. PMID: 23658460. PMCID: PMC3959126.

Lucas, A. L., Frado, L. E., Hwang, C., Kumar, S., Khanna, L.G., Levinson, E. J., Chabot, J. A., Chung, W.K., Frucht, H. BRCA1 and BRCA2 Germline Mutations are Frequently Demonstrated in Both High Risk Pancreatic Cancer Screening and Pancreatic Cancer Cohorts. Cancer. 230(13):1960-1967, 2014. PMID: 24737347.

*** Holter S1 et al. Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma. J Clin Oncol. 2015 May 4. pii: JCO.2014.59.7401. [Epub ahead of print].


To keep learning about pancreatic cancer:
Overview | Causes | Symptoms | Genetics | Diagnosis | Treatment | Prognosis | Coping