Article
Enrichment of Germline Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Pathogenic Variants in Patients With Solid Tumors: Evidence for Increased Cancer Risk.
Pediatric pulmonology - 1 Oct 2025
Shugg Tyler, Gallaway Katherine A, Powell Nick, Skaar Todd C, Bray Steven M, Stout Leigh Anne, Colwell Abi, Brown Cynthia D, Slaven James E, Tillman Emma M
Abstract excerpt
INTRODUCTION: Wide-spread use of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulators has resulted in a dramatic increase in life expectancy of people with CF. Historically, CFTR carrier status has been thought to be benign; however, data are emerging that dysfunction of CFTR may play a role in cancer risk. The aims of this study were to (1) determine the frequency of germline pathogenic...
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