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Advances in familial pancreatic cancer

Dr Julie Earl, Molecular epidemiology and predictive tumor markers group, Ramón y Cajal Health Research Institute (IRYCIS), Madrid, Spain
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Date: 28.10.2020 at 14:00 (CET)


The prognosis of patients diagnosed with pancreatic cancer (PC) is dismal with a 5 year survival rate of around 5% as the majority of patients present with advanced disease. Very few risk factors have been identified, although there is good evidence to suggest that smoking, obesity, a family history of pancreatic cancer, pancreatitis and diabetes increase pancreatic cancer risk. Sporadic PC occurs worldwide at an approximate frequency of 1 in 10,000 people. However, the risk of developing PC increases according to the number of affected family members, the standard incidence ratio is 4.6 with one affected family member to 32 with three affected family members. Familial pancreatic cancer (FPC) is defined as a family with at least one pair of affected first degree relatives and an estimated 4-10% of pancreatic cancers diagnosed have a familial background. Approximately 10–13% of FPC families carry germline mutations in BRCA2, PALB2, ATM, CHEK2, CDKN2A, Lynch syndrome mismatch repair genes, Fanconi anaemia related genes and PRSS1 and SPINK2 (hereditary pancreatitis), among others. The understanding of genetic basis of hereditary pancreatic cancer has important implications for the identification of true high-risk individuals in order to optimise secondary screening strategies.