Introduction: Deleterious mutations associated with an increased risk of cancer are prevalent in the general population and remain undetected in the vast majority of patients until cancer develops. Hereditary cancer assessment is an important part of patient evaluation, especially upon initial presentation to a clinician. Customarily, specialists focus on family history specific to their specialty. Gynecologists and breast surgeons query patients about family history of breast and ovarian cancer (ie HBOC syndrome) while gastroenterologists & colorectal surgeons focus on Lynch syndrome. Recently, we broadened our cancer risk assessment in our GI population by utilizing the more broad NCCN guidelines rather than focusing on GI criteria. Methods: We employed a digital survey on a tablet using NCCN guidelines. The patients were presented with the tablet prior to being seen by the physician. If the survey indicated that the patient was at increased risk for hereditary cancer, further evaluation and possible testing was offered. Results: 2,239 patients were screened: 639 patients (29%) = high risk, 76% met HBOC criteria, 12% met Lynch criteria, and 12% both; 381 interested in genetic evaluation (60%), 374 were tested (98%): 27 were positive for deleterious mutations: 9 APC low penetrance (7 of 9 Ashkenazi Jewish - elevated colon cancer risk), 6 Monoallelic MUTYH, 3 ATM, 2 APC, 2 BRCA1, 2 BRCA2, 1 CHEK2, 1 PMS2, 1 RAD51D. 26/27 mutations (96%) with GI-related cancer risk - 3 single-site testing=24 mutations via panel testing & 23 (95.8%) with GI-related cancer risk. 14/23 (61%) had HBOC-related indications vs. 9 (39%) with Lynch indications. Overall, 18 mutations (67%) are GI-related genes (monoallelic MUTYH, APC low penetrance, APC & PMS2) - 2 were single-site testing, ie 16 mutations were identified by panel testing. 8/16 (50%) = HBOC-related indications & 8 (50%) were Lynch indications Conclusion: In an attempt to identify individuals with an increased risk of hereditary cancer in our practice, we expanded our assessment based on overall risk by utilizing NCCN guidelines rather than focused GI criteria. We detected 27 previously unidentified mutations in our population of 2239 screened patients. Expanding the survey questions to include HBOC risks and using panel testing, resulted in a 2.5 fold increase in the detection of GI related mutations. This experience suggests that hereditary risk assessment should address overall cancer risk and not be limited to focused assessment.

Purpose: The frequency of seeing the ampulla using a forward-viewing endoscope is unknown. Many gastroenterologists note seeing the ampulla on an inconsistent basis during routing upper endoscopy. Here, we attempt to determine the frequency of ampullary visualization during routine upper GI endoscopy with a forward-viewing endoscope. Methods: February through April 2007, 224 patients underwent upper endoscopy using a forward viewing endoscope (Olympus GIFH180) for various indications: anemia, GERD, dysphagia, malabsorption, neoplasia (Polyposis syndromes, Barrett esophagus), etc. The endoscope was advance to 3rd portion of the duodenum, and if the ampulla was visualized, photo documentation was obtained. Similarly, if the ampulla was not visualized, it was reported as such. The upper endoscopies were performed by five gastroenterologists whom have advanced training/experience with upper endoscopy and ERCP. Results: A total of 224 patients underwent esophagogastroduodenscopy. Of the 224 patients, seven patients have a history either of Whipple Procedure, Billroth II or Gastric Bypass surgery. These patients were excluded from final analysis of the data. The ampulla of Vater was identified in 154(70.9%) of 217 patients, while in remaining 63(29%) of 217 patients, the ampulla was not identified. When the ampulla was identified, the average insertion depth of the instrument was 62.9 cm. In addition, three patients were found to have benign villous adenoma at the ampulla. For the 224 esophagogastroduodenscopies that were completed in these patients, there were no complications or prolongation of procedure time Conclusion: The ampulla of Vater can be visualized in the majority of patients undergoing routine upper GI endoscopy on an outpatient basis. While Kong et al, were able to detect the duodenal papilla via capsule endoscopy in 43.6% of 112 cases in their retrospective review, we were able to identify and document seeing the ampulla of Vater 70.9% of the time using a forward viewing endoscope. In this study, three ampullary adenomas were coincidentally detected. A larger study is needed to determine if there is a difference in ampullary identification based on the level of gastroenterologist training and years of experience. Furthermore, if gastroenterologists start to routinely identify the ampulla and biopsy as needed, the risks and benefits related to the detection of ampullary neoplasms will have to be assessed.