2025-09-01
A landscape of genetic heterogeneity in germline predisposition to familial chronic lymphocytic leukemia
2025-09-01 • Luca Laurenti, Eugenio Sangiorgi, Idanna Innocenti, Alberto Fresa, Giulia Rapari, Marianna Buttarelli, Melania Riccio, Annamaria Tomasso, Candida V...
<title>Abstract</title> This study provides a comprehensive analysis of the germline landscape in 81 families with chronic lymphocytic leukemia (CLL). We uncovered key genetic pathways associated with CLL predisposition, including telomere maintenance, DNA double-strand break (DSB) repair, and immune regulation. Notably, pathogenic variants were found in <italic>POT1</italic> and <italic>TINF2</italic>, suggesting defects in telomere stability, while variants in <italic>CHEK2</italic>, <italic>MRE11</italic>, <ita…