Genetic Counseling and Gene Testing in Hereditary Pancreatic Cancer
12:00 - 12:20, Room 104 (104講堂)
Genetic counseling and gene testing in hereditary pancreatic cancer
Pancreatic cancer is a very aggressive disease with a poor prognosis. The majority of them are attributed to sporadic causes, but a small part of patients arises from inherited disorders. Individuals have an increased risk of pancreatic cancer if they have a strong family history, hereditary pancreatitis, or a known hereditary cancer syndrome associated with pancreatic cancer. Genetic diagnosis should be considered. The germline cancer susceptibility genes include ATM, BRCA1, BRCA2, PALB2, CDKN2A, STK11, MLH1, MSH2 and MSH6. The pancreatitis susceptibility genes, PRSS1, CPA1 and CTRC, are also associated with significantly increased risk of developing pancreatitis. The International Cancer of the Pancreas Screening (CAPS) Consortium recommends annual surveillance for high risk people and the preferred surveillance tests are endoscopic ultrasound and MRI/magnetic retrograde cholangiopancreatography. Recently, a long-term (16-year) follow-up study demonstrated that surveillance could successfully detect resectable PDAC and high grade precursor neoplasms to improve overall survival. Therefore, it’s important to identify people with high risk of pancreatic cancer and advise them receiving surveillance to attenuate the pancreatic cancer related mortality.