Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants

Conclusion In consecutive cases, mostly unselected for clinical criteria of HDGC, the IGCLC 2020 criteria are, at best, marginally more sensitive than previous iterations, but they are also more cumbersome. Unavailable cancer pathology reports are a real-world obstacle to their proper application. Our proposed Yale criteria both address this issue and offer significantly greater sensitivity than the IGCLC 2020 criteria.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Cancer genetics Source Type: research