Pathogenic variants in a number of different hereditary cancer genes increase the risk for pancreatic cancer. These genes include BRCA1, BRCA2, Lynch syndrome genes (primarily ML
H1, MSH2, MSH6 and EPCAM), ATM, CDKN2A, PALB2, STK11 and TP53.
Unfortunately, pancreatic cancer has historically been a disease that is most often diagnosed late-stage. Recent studies, however, looking at pancreas screening in high-risk individuals (those with a positive family history and/or gene mutation) are extremely promising.
The multicenter Cancer of Pancreas Screening-5 (CAPS5) study and the Johns Hopkins CAPS study recently published data evaluating the stage at diagnosis and outcome of individuals diagnosed with pancreatic cancer from a high-risk population. The results from this study were astounding in that the majority of individuals who were diagnosed with pancreatic cancer while undergoing regular surveillance were diagnosed with stage 1 disease and achieved long-term survival.
As significant advances are being made in screening for pancreatic cancer, there is ongoing discussion (and some debate) regarding what individuals should be offered surveillance. NCCN guidelines (v1.2024) recommend pancreatic cancer screening for individuals with a familial risk, where 2 to 3 close relatives have been diagnosed with pancreatic cancer. For individuals with STK11 or CDKN2A germline variants, screening can be considered regardless of family history. For those individuals who carry a germline mutation in one of the other pancreatic cancer genes mentioned above (ATM, BRCA2, PALB2, etc.), NCCN only recommends screening in those with a family history of pancreatic cancer. In contrast, the American Society for Gastrointestinal Endoscopy (ASGE) recently published a guideline recommending that individuals with BRCA1, BRCA2, and PALB2 germline mutations consider surveillance for pancreatic cancer even in the absence of family history. Additionally, a number of centers and institutions are further expanding guidelines by offering screening to all individuals with ATM mutations regardless of family history.
While differences may exist regarding who should qualify for pancreatic cancer screening, all individuals who have a germline variant in a pancreatic cancer gene, as well as anyone who has 2 or more relatives with pancreatic cancer, should consider having an individualized conversation with their provider about surveillance for pancreatic cancer to determine if screening might be appropriate for them.
Stay tuned for the upcoming CGA-IGC webinar tomorrow, September 28, as Bryson Katona, MD, Ph.D., and Beth Dudley Yurkovich, MS, MPH, CGC, discuss surveillance for hereditary pancreatic cancer.
The webinar is free for members.
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For more information on screening for pancreatic cancer, browse the following links:
Pancreatic Cancer Action Network: https://pancan.org/facing-pancreatic-cancer/diagnosis/early-detection
The American College of Gastroenterology (ACG), the National Comprehensive Cancer Network (NCCN), and the American Gastroenterology Association (AGA) suggest that patients be cared for at expert centers that provide a comprehensive, multidisciplinary pancreatic cancer surveillance program. Many of these centers participate in consortiums that encourage the collection of standardized surveillance data to support research efforts to improve pancreatic cancer surveillance. You can find comprehensive GLOBAL resources for Pancreatic Surveillance Programs - including CGA-IGC Centers, International Cancer of the Pancreas Screening (CAPS) Consortium, and Pancreatic Cancer Early Detection (PRECEDE) Consortium on the CGA-IGC website here
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If you enjoyed this blog post, you might be interested in the following resources
1. On-demand Webinars FREE for CGA-IGC members. Not a member? Sign up here!
From 2023 with Barry Tong, Niharika Dixit, and Evan Walker discussing Optimizing access to genetic testing for patients with pancreatic cancer. Webinar / Blog
2. Podcasts OPEN ACCESS
From 2022 with Michael G. Goggins, M.B.B.CH., M.D., and Beth Dudley Yurkovich, MS, MPH, CGC, speaking about The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival. Podcast
From 2022 with Thomas (T.J.) Slavin, M.D.,FACMGG, Ph.D. and Bryson Katona, M.D., PhD, speaking about EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer. Podcast