Article
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Human molecular genetics - 20 Mar 2025
Prizment Anna, Standafer Abby, Qu Conghui, Beutel Kathleen M, Wang Shuo, Huang Wen-Yi, Lindblom Annika, Pearlman Rachel, Van Guelpen Bethany, Wolk Alicja, Buchanan Daniel D, Grant Robert C, Schmit Stephanie L, Platz Elizabeth A, Joshu Corinne E, Couper David J, Peters Ulrike, Starr Timothy K, Scott Patricia, Pankratz Nathan
Abstract excerpt
BACKGROUND: Individuals with cystic fibrosis (CF; a recessive disorder) have an increased risk of colorectal cancer (CRC). Evidence suggests individuals with a single CFTR variant may also have increased CRC risk. METHODS: Using population-based studies (GECCO, CORECT, CCFR, and ARIC; 53 785 CRC cases and 58 010 controls), we tested for an association between the most common CFTR variant (Phe508del) and CRC risk....
Topics
- Humans
- Cystic Fibrosis Transmembrane Conductance Regulator
- Colorectal Neoplasms
- Genetic Predisposition to Disease
- Male
- Cystic Fibrosis
- Female
- Exome Sequencing