Pancreatic cancer screening and outcomes in patients with germline pathogenic variants.

450 Background: Pancreatic cancer (PC) remains one of the deadliest malignancies, due to late-stage presentation and limited risk-reduction strategies. Certain high-penetrance germline variants increase pancreatic cancer risk, and the NCCN recommends screening for this unique population. As genetic testing becomes more common, mutations predisposing to pancreatic cancer can be detected. This study aims to describe the screening compliance of patients at a single center with germline pathogenic variants (PVs) at high-risk for developing pancreas cancer. Methods: Patients who underwent genetic testing between 2010-2024 were identified from a prospectively maintained Breast and Gastroenterology clinic database. Patients without confirmed genetic testing documentation were excluded. High-penetrance PVs for pancreatic cancer include ATM, BRCA2, CDKN2A and STK11, as well as a family history of PC with BRCA1 or PALB2 PVs. After the date of genetic testing, abdominal imaging was reviewed including the modality (MRI, CT, EUS), and whether imaging was for screening (intentional) or another issue unrelated to screening (incidental) based on the indication for ordering the study. The detection of pancreatic cancer and outcomes were additionally tracked. Results: Of 194 patients who had relevant genetic testing results, 128 (65.98%) underwent abdominal imaging, while 66 (34.02%) did not. Among those who underwent imaging, 86 (67.19%) had incidental imaging and 42 (32.81%) had intentional screening. The most used modality was CT in 69 patients (76.67%), followed by MRI in 21 (23.33%). Five patients developed PC, however, all underwent genetic testing after their diagnosis. Discussion: Our findings highlight a critical gap in guideline-recommended screening for patients with a genetic predisposition to pancreatic cancer. Despite having confirmed mutations, only 65% underwent imaging and only one-fifth were intentionally screened for pancreas cancer. Although MRI and EUS have a higher sensitivity for detection, CT scans were the most used imaging modality. Conclusions: This study reveals the need for a more systematic, coordinated approach to pancreatic cancer screening in genetically high-risk patients. Our institution has launched a high-risk pancreas screening program to address this gap and will follow the outcomes of this effort in future work.

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Publication Details

Journal
JCO Oncology Practice
Published
2025-10-01
DOI
https://doi.org/10.1200/op.2025.21.10_suppl.450
Primary Topic
Pancreatic and Hepatic Oncology Research
Type
article
Field-Weighted Citation Impact
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article

Pancreatic cancer screening and outcomes in patients with germline pathogenic variants.

Gayathri Nagaraj, Mina Botros, Shafik Khoury, Raja R. Narayan et al.
JCO Oncology Practice
Pancreatic and Hepatic Oncology Research
article

Pancreatic cancer screening and outcomes in patients with germline pathogenic variants.

Gayathri Nagaraj, Mina Botros, Shafik Khoury, Raja R. Narayan, Enxi Chen, Alexander Gavralidis, Julieta Klaassen, Liang Ji, Timothy Yen, Pranati Shah, Kevin Bera, Skey Balang, Joseph Hemry
article en

Abstract

450 Background: Pancreatic cancer (PC) remains one of the deadliest malignancies, due to late-stage presentation and limited risk-reduction strategies. Certain high-penetrance germline variants increase pancreatic cancer risk, and the NCCN recommends screening for this unique population. As genetic testing becomes more common, mutations predisposing to pancreatic cancer can be detected. This study aims to describe the screening compliance of patients at a single center with germline pathogenic variants (PVs) at high-risk for developing pancreas cancer. Methods: Patients who underwent genetic testing between 2010-2024 were identified from a prospectively maintained Breast and Gastroenterology clinic database. Patients without confirmed genetic testing documentation were excluded. High-penetrance PVs for pancreatic cancer include ATM, BRCA2, CDKN2A and STK11, as well as a family history of PC with BRCA1 or PALB2 PVs. After the date of genetic testing, abdominal imaging was reviewed including the modality (MRI, CT, EUS), and whether imaging was for screening (intentional) or another issue unrelated to screening (incidental) based on the indication for ordering the study. The detection of pancreatic cancer and outcomes were additionally tracked. Results: Of 194 patients who had relevant genetic testing results, 128 (65.98%) underwent abdominal imaging, while 66 (34.02%) did not. Among those who underwent imaging, 86 (67.19%) had incidental imaging and 42 (32.81%) had intentional screening. The most used modality was CT in 69 patients (76.67%), followed by MRI in 21 (23.33%). Five patients developed PC, however, all underwent genetic testing after their diagnosis. Discussion: Our findings highlight a critical gap in guideline-recommended screening for patients with a genetic predisposition to pancreatic cancer. Despite having confirmed mutations, only 65% underwent imaging and only one-fifth were intentionally screened for pancreas cancer. Although MRI and EUS have a higher sensitivity for detection, CT scans were the most used imaging modality. Conclusions: This study reveals the need for a more systematic, coordinated approach to pancreatic cancer screening in genetically high-risk patients. Our institution has launched a high-risk pancreas screening program to address this gap and will follow the outcomes of this effort in future work.

JCO Oncology PracticeVol. 21(10_suppl)
Loma Linda University Medical Center (US), Loma Linda University (US), Loma Linda University Health Care (US)
Openalex Percentile: Top 62%
Pancreatic and Hepatic Oncology Research
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