IllnessPancreatic cancer [familial cancer syndromes]

NGS + SNP

[Sanger]

Ductal adenocarcinoma of the pancreas (PDAC) accounts for >90% of all pancreatic cancers and is characterised by high mortality rates; at the time of diagnosis the disease is already mostly incurable (5-year survival rate 7%). Late diagnosis and rapid progression combined with minimal response to therapy are the main reasons. Approximately 10-15% of PDAC cases have hereditary or familial causes. In the majority of PDAC cases, no responsible DNA sequence abnormality can be identified, but several known germ line changes are associated with an increased risk of this form of cancer. The presence of at least two pancreatic cancer patients among first-degree relatives (without a causative germ-line mutation) is defined as familial pancreatic cancer; this accounts for 4% to 10% of PDAC cases. The given panel also includes genes that take into account the risk of cancer development based on chronic pancreatitis. Therefore, the core message of these studies will usually be relative risks for PDAC.

Reference: https://www.cancernetwork.com/view/hereditary-vs-familial-pancreatic-cancer-associated-genetic-syndromes-and-clinical-perspectivehttps://pubmed.ncbi.nlm.nih.gov/30894932/

• Alias: Pancreatic cancer, hereditary; Familial pancreatic cancer
• Allelic: Hereditary chronic pancreatitis [panelapp] (CPA1)
• Adenoma, periampullary, somatic (APC)
• Malignant pancreatic neoplasm [MONDO:0009831, panelapp] (CDK4, MLH1, MSH2, -6, PMS2, PRSS!)
• Melanoma-pancreatic cancer syndrome (CDKN2A)
• Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Pancreatic cancer, somatic (STK11)
• Pancreatic cancer, susceptibility to, 1 (PALLD)
• Pancreatic cancer, susceptibility to, 2 (BRCA2)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Pancreatic cancer, susceptibility to, 5 (RABL3)
• Pancreatitis, hereditary (PRSS1)