Author

Chadi Saad

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Open access Oct 2026

MLH1 p.His112Arg Variant Is Associated With Increased Cancer Susceptibility.

Lynch syndrome, a prevalent hereditary cancer predisposition, is frequently caused by pathogenic variants in the MutL homolog 1 (MLH1) mismatch repair gene. However, a significant proportion of MLH1 missense variants remain classified as variants of uncertain significance (VUS), creating clinical ambiguity. Functional...

Amal Elfatih, Issam Tout, N. Doha et al. · International Journal of Can... · 0 citations

Open access Jul 2026

Cross-definition GWAS of IBS in 2.8 million individuals reveals cardiometabolic and triglyceride-linked mechanisms

This study provides the most comprehensive assessment of IBS genetics to date, demonstrating reproducible polygenic inheritance and linking IBS risk to convergent neurogastrointestinal and novel cardiometabolic mechanisms, highlight specific biological pathways and actionable mechanisms and outline translational opport...

Biagio Di Lorenzo, L. Camargo Tavares, Cristian Díaz-Muñoz et al. · Gut · 0 citations