Journal article
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
Krithika Murali, Tanya M Dwarte, Mehrdad Nikfarjam, Katherine M Tucker, Rhys B Vaughan, Marios Efthymiou, Allison Collins, Allan D Spigelman, Lucinda Salmon, Amber L Johns, David B Williams, Martin B Delatycki, Thomas John, Alina Stoita
HEREDITARY CANCER IN CLINICAL PRACTICE | BMC | Published : 2021
Abstract
BACKGROUND: The Australian Pancreatic Cancer Screening Program (APCSP) offers endoscopic ultrasound surveillance for individuals at increased risk of pancreatic ductal adenocarcinoma (PDAC) with all participants requiring assessment by a Familial Cancer Service before or after study enrolment. METHODS: Individuals aged 40-80 years (or 10 years younger than the earliest PDAC diagnosis) were eligible for APCSP study entry if they had 1) ≥ two blood relatives with PDAC (at least one of first-degree association); 2) a clinical or genetic diagnosis of Hereditary Pancreatitis or Peutz-Jeghers syndrome irrespective of PDAC family history; or 3) a known PDAC predisposition germline pathogenic varian..
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Funding Acknowledgements
AFPaCC was enabled by a Cancer Institute NSW Translational Health Services Research Grant. The APGI is supported by The Avner Pancreatic Cancer Foundation. The Clinical Research Coordinator positions in both Sydney and Melbourne are currently supported by PanCare.