Pancreatic ductal adenocarcinoma (PDAC) is a lethal malignancy. About 10% of cases are linked to hereditary cancer predisposition caused by germline pathogenic variants (gPVs) in cancer-predisposition genes. Such gPVs are present in every cell of the body and can be inherited across generations. Individuals with gPVs have an increased risk to develop certain cancers. Identifying hereditary PDAC is important, as affected patients may benefit from targeted therapies, and their relatives can take preventive measures. This research explored cohorts of PDAC patients with an increased chance of hereditary cancer predisposition. The presence of certain malignancies, especially melanoma and ovarian cancer, in personal history of PDAC patients was strongly associated with inherited cancer susceptibility. In young patients (under 50 years), tumours showing microsatellite instability/mismatch repair deficiency (MSI/dMMR) were strongly indicative of an underlying gPV. Such patients should undergo germline testing to identify hereditary PDAC cases.
Valentyna Kryklyva (1992) obtained her Master’s degree in Biochemistry, speciality Molecular Biology at the Taras Shevchenko National University of Kyiv, Kyiv, Ukraine (2015), and Master’s degree in Molecular Mechanisms of Disease at Radboud University (2017). In 2017 Valentyna started her PhD project on hereditary pancreatic cancer at the Department of Pathology, Radboudumc. Currently Valentyna works as a diagnostic molecular biologist at the Department of Hematology, Amsterdam UMC.