Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Krithika MuraliTanya M DwarteMehrdad NikfarjamKatherine M TuckerRhys B VaughanMarios EfthymiouAllison CollinsAllan D SpigelmanLucinda SalmonAmber L JohnsDavid B WilliamsMartin B DelatyckiThomas JohnAlina StoitaPublished in: Hereditary cancer in clinical practice (2021)
Germline pathogenic variants associated with PDAC were seen in 29.1% of our high-risk cohort (55/189 kindreds; 82/285 participants). Importantly, 10.4% of kindreds offered genetic testing were newly identified as having germline pathogenic variants, with majority being BRCA2. As genetic testing standards evolve rapidly in PDAC, 5-yearly reassessment of high-risk individuals by Familial Cancer Services is warranted.