Somatic mutations were identified in genes in which constitutional alterations are associated with familial pancreatic ductal adenocarcinoma, such as ATM, BRCA2 and PALB2 (one tumour each), as well as in genes altered in extra-pancreatic neoplasms, such as JAK1 in four tumours (17%), BRAF in three (13%), RB1 in three (13%), APC in two (9%), PTEN in two (9%), ARID1A in two (9%), MLL3 in two (9%) and BAP1 in one (4%).
In addition, important genes, molecular abnormalities, and significant pathways of pancreatic cancer are analyzed and a potential clinical interpretation is presented (p16/cdkn2a, k-ras mutations, smad-4/tgf-/stat3, stk-11, braf, brca-2, neurotensin, mucs proteins, palb2, mitochondrial mutations, DNA mismatch repair genes, methylation, microrna expression, epithelial-to-mesenchymal transition, egfr mutations, the pi3k-akt-mtor pathway, the vegf pathway, heat shock proteins, cxcr4, the cox pathway, the src pathway, the hedgehog pathway, pancreatic stellate cells, a progression model, and molecular events in uncommon pancreatic tumors).