Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
Abstrakt
Simple Summary: We performed genetic analysis of 53 cancer predisposing genes in Belgian and Czech pancreatic cancer patients. In known pancreatic cancer predisposing genes, a high mutation detection ratio was observed in patients with multiple primary tumors and/or a family history of pancreatic or breast, ovarian or colon cancer or melanoma.
BRCA1, BRCA2, and ATM were most frequently affected. Pathogenic variants in cancer predisposition genes for which the association with pancreatic cancer has not been firmly established, were less frequent, except for CHEK2.
This observation warrants further analyses in other populations. To accurately determine risk associations our study highlights the importance of using a geographically-matched control population.