Cystic fibrosis, CFTR, and colorectal cancer

Patricia Scott, Kyle Anderson, Mekhla Singhania, Robert Cormier

Research output: Contribution to journalReview articlepeer-review

30 Scopus citations


Cystic fibrosis (CF), caused by biallelic inactivating mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, has recently been categorized as a familial colorectal cancer (CRC) syndrome. CF patients are highly susceptible to early, aggressive colorectal tumor development. Endoscopic screening studies have revealed that by the age of forty 50% of CF patients will develop adenomas, with 25% developing aggressive advanced adenomas, some of which will have already advanced to adenocarcinomas. This enhanced risk has led to new CF colorectal cancer screening recommendations, lowering the initiation of endoscopic screening to age forty in CF patients, and to age thirty in organ transplant recipients. The enhanced risk for CRC also extends to the millions of people (more than 10 million in the US) who are heterozygous carriers of CFTR gene mutations. Further, lowered expression of CFTR is reported in sporadic CRC, where downregulation of CFTR is associated with poor survival. Mechanisms underlying the actions of CFTR as a tumor suppressor are not clearly understood. Dysregulation of Wnt/β-catenin signaling and disruption of intestinal stem cell homeostasis and intestinal barrier integrity, as well as intestinal dysbiosis, immune cell infiltration, stress responses, and intestinal inflammation have all been reported in human CF patients and in animal models. Notably, the development of new drug modalities to treat non-gastrointestinal pathologies in CF patients, especially pulmonary disease, offers hope that these drugs could be repurposed for gastrointestinal cancers.

Original languageEnglish (US)
Article number2891
JournalInternational journal of molecular sciences
Issue number8
StatePublished - Apr 2 2020

Bibliographical note

Funding Information:
Funding: University of Minnesota Academic Health Center Faculty Development Grant (P.S.), University of Minnesota Masonic Cancer Center (R.C., P.S.), Mezin-Koats Colon Cancer Research Award (P.S., R.C.), Whiteside Institute for Clinical Research (P.S., R.C.), Essentia Health Systems (R.C.), and Annette Boman Cancer Research Fellowship (M.S.).

Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.


  • CFTR
  • Colorectal cancer
  • Cystic fibrosis
  • Tumor suppressor


Dive into the research topics of 'Cystic fibrosis, CFTR, and colorectal cancer'. Together they form a unique fingerprint.

Cite this