CTNNA1 Truncating Variants Define a Moderate-Penetrance Hereditary Diffuse Gastric Cancer Spectrum — Implications for Testing, Surveillance and Risk Reduction
Posted inGastroenterology news Oncology

CTNNA1 Truncating Variants Define a Moderate-Penetrance Hereditary Diffuse Gastric Cancer Spectrum — Implications for Testing, Surveillance and Risk Reduction

Large clinical and functional study shows CTNNA1-truncating variants cause loss of αE-catenin via nonsense-mediated decay, confer substantially elevated risks of diffuse gastric cancer and lobular breast cancer versus general population but are less penetrant than CDH1 mutations; proposes simplified testing ('Porto' criteria) and clinical implications.