Low frequency of CHEK2 mutations in familial pancreatic cancer

• Published in: Familial cancer Vol. 5; no. 4; pp. 305 - 308
• Main Authors: Bartsch, Detlef K, Krysewski, Kristina, Sina-Frey, Mercedes, Fendrich, Volker, Rieder, Harald, Langer, Peter, Kress, Ralf, Schneider, Margarete, Hahn, Stephan A, Slater, Emily P
• Format: Journal Article
• Language: English
• Published: Netherlands Springer Nature B.V 01-11-2006
• Subjects: Adult; Aged; Aged, 80 and over; Checkpoint Kinase 2; Female; Humans; Male; Middle Aged; Mutation; Pancreatic cancer; Pancreatic Neoplasms - etiology; Pancreatic Neoplasms - genetics; Protein-Serine-Threonine Kinases - genetics
• ISSN: 1389-9600; 1573-7292
• DOI: 10.1007/s10689-006-7850-4

Familial pancreatic cancer (FPC) is a rare tumour syndrome and its underlying major gene defect is still unknown. Recently, CHEK2 has been identified as multi-organ cancer susceptibility gene associated with a predisposition to breast, prostate and colon cancer. Since these cancers also are associated with some FPC families, we have analysed 35 index patients of German FPC families for CHEK2 mutations. The CHEK2 * 1100delC mutation was found in 1 (3%) of 35 FPC families. Given the low expected mutation rate of up to 1.4% for CHEK2 * 1100delC in the European population our data are suggestive for possible contribution of CHEK2 mutations to a small subset of FPC.