Abstract IA5: Translating genetic discoveries to patient care

Abstract

Abstract Next-generation sequencing technologies have changed the speed at which cancer genetics research can be performed and this research has fundamentally changed our understanding of pancreatic cancer. 1. Families: It has been estimated that 10% of pancreatic cancer has an inherited basis. Whole-exome and whole-genome sequencing studies have led to the discovery of several new familial pancreatic cancer genes including PALB2 and ATM. It is hoped that new multi-institutional collaborative efforts will dramatically increase the pace of discovery. Patients found to harbor a genetic alteration that predisposes them to pancreatic cancer will be the first to benefit from early detection efforts. 2. Cystic neoplasms: Some cystic lesions in the pancreas are harmless benign tumors, while others are precancerous. Lives can be saved if significant precursor lesions can be identified and removed, but there is a risk of over-treatment if the benign harmless cysts are removed. Whole-exome sequencing all of the four major types of cystic neoplasms of the pancreas has revealed a pattern of mutations specific for each cyst type. In the future, cyst fluid can be sampled and cyst type determined by sequencing. 3. Early detection: The genetic alterations in a cancer and in its precursor lesions offer extremely sensitive and highly specific markers for the early detection of pancreatic neoplasia. These genetic alterations can be detected in pancreatic juice collected at endoscopy and even in the plasma. 4. Invasive cancer: Genetic alterations in a cancer can be the basis for individualized therapies. 5. Metastatic cancer: The sequencing of metastatic cancer has helped define the timeline of tumor progression in the pancreas. In sum, and in short, these are exciting times in the war against pancreatic cancer. The translation of discoveries made by sequencing pancreatic tumors to patient care holds the promise for reducing mortality from this terrible disease. Citation Format: Ralph H. Hruban. Translating genetic discoveries to patient care. [abstract]. In: Proceedings of the AACR Special Conference on Pancreatic Cancer: Innovations in Research and Treatment; May 18-21, 2014; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2015;75(13 Suppl):Abstract nr IA5.