Enrichment of Germline Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Pathogenic Variants in Patients With Solid Tumors: Evidence for Increased Cancer Risk.

ABSTRACT:

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 CFTR gene variations in a cohort of patients with cancer, and (2) investigate associations between germline pathogenic CFTR variants and established germline somatic oncogenic driver mutations.

Methods

The Indiana University Adult Precision Genomics (APG) clinical database was queried for all subjects having a germline CFTR pathogenic variant (PV). The CFTR PVs observed

SUBMITTER: Shugg T 

PROVIDER: S-EPMC12560065 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature