Background: Currently, pancreatic cancer (PC) is the fourth leading cause of cancer mortality in the United States. However, with the lack of early detection tests and treatment options, it is estimated that PC may move to the second leading cause of cancer death in the United States by 2020 or even earlier.1 In a small percentage of cases, the incidence of PC has been shown to be greater in some patients with known gene mutations. Thus, some individuals with a family history of the disease are at a higher risk of developing this cancer. Individuals with at least 1 first-degree relative with pancreatic ductal adenocarcinoma (PDAC) have an up to 18-fold higher risk of developing PC than the general population, and the increased risk may be due to genetic predisposition or unidentified causes.2 Due to the lack of effective medical treatments for PC, early detection in high-risk individuals is imperative in treating the disease.
Objective: To describe the early results of a Pancreatic Cancer Familial Risk Assessment (PCFRA) program.
Methods: To qualify for the program, patients must have a family history of PDAC with at least 1 first-degree relative and/or have a genetic mutation that increases the risk for developing PDAC (such as BRAC1/2, PALB2, CDKN2A, ATM, and STK11, and genes linked to Lynch syndrome). Patients are referred via self, genetic counselors, or providers. A patient navigator determines patient eligibility for participation and guides them through each step of the program. Patients enrolled in the PCFRA program undergo genetic evaluation, a consultation with the physician, diagnostic imaging, and serum-based testing for CA19-9, a tumor marker for PC. Patient results are presented at the pancreatic multidisciplinary tumor conference, in which medical and surgical oncologists, radiologists, gastroenterologists, and pathologists determine next steps for early detection. A return visit with the physician is then scheduled to thoroughly discuss results and to provide individual education on PC, as well as recommendations for additional testing or follow-up.
Results: To date, 16 patients have completed initial evaluation through the PCFRA program. From these evaluations, significant findings include: 2 pancreatic cysts, 1 noncancerous pancreatic mass, and 1 incidental finding of lymphoma. Of the remaining patients, 5 are being evaluated annually, with no significant findings to date, and 1 patient was released from the program when deemed at low risk of developing PC. Results are pending on 4 patients, and 2 patients opted to discontinue the program after the initial consultation.
Conclusion: Thus far we are still early in our screening program. Given that families with a history of PC have anywhere from a 3 to 30 times increased risk of PC, this program is important to identify high-risk patients earlier in the course of the disease.
- Pancreatic Cancer Action Network. The Alarming Rise of Deaths in the United States: Why We Need to Stem the Tide Today. www.pancan.org/images/JONS/legacy/2013/01/incidence_report_2012.pdf. 2012. Accessed July 7, 2017.
- Canto MI. Familial risk factors for pancreatic cancer and screening of high-risk patients. UpToDate. www.uptodate.com/contents/familial-risk-factors-for-pancreatic-cancer-and-screening-of-high-risk-patients?source=search_result&search=familial%20pancreatic%20cancer&selectedTitle=1~7.