Abstract
Objective. Pancreatic adenocarcinoma is typically diagnosed in advanced stages resulting in a significant reduction in the number of patients who are candidates for surgical resection. Although the majority of cases are believed to occur sporadically, about 10% show familial clustering and studies have identified an increased frequency of BRCA germline mutations. The role of screening for pancreatic adenocarcinoma in these populations is unclear. Our study aims to identify the abnormal pancreatic imaging findings in BRCA1 and BRCA2 mutation carriers. Methods. A retrospective review of patient medical records with known BRCA1 and BRCA2 mutations was conducted. Data was collected and all available abdominal imaging studies were reviewed. Results. A total of 66 patients were identified, 36 with BRCA1 and 30 with BRCA2 mutations. Only 20/66 (30%) had abdominal imaging (14 BRCA1 and 6 BRCA2 patients). Of those patients with abdominal imaging, abnormal pancreatic imaging findings were detected in 7/20 (35%) cases. Conclusion. Our study shows a high incidence of abnormal pancreatic imaging findings in patients with BRCA genetic mutations (35%). Larger studies are needed to further define the role of pancreatic cancer screening and the significance of abnormal imaging findings in BRCA1 and BRCA2 mutation carriers.
Highlights
Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer death in the United States and contributes to an estimated 227,000 deaths per year worldwide [1]
Our study aims to identify the frequency of abnormal pancreatic imaging findings in patients with BRCA1 and BRCA2 genetic mutations
66 subjects from the original group had available medical records (36 BRCA1, 30 BRCA2); the remaining 41 patients had been referred for genetic testing and counseling without further workup
Summary
Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer death in the United States and contributes to an estimated 227,000 deaths per year worldwide [1]. It is estimated that PDAC will become the second leading cause of cancer-related death by the year 2030 [2]. Currently there is insufficient data to indicate that screening for PDAC is effective in reducing morbidity and mortality. Guidelines recommend against general population screening [5]. Recent consensus panels suggest potential benefits for PDAC screening in high-risk populations, further characterization of such individuals is needed [6]
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