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The risk of colorectal cancer in individuals with mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: an English population-based study

Plain language summary:

Background:


Previous studies have shown that people will Cystic Fibrosis have a higher risk of developing bowel cancer than people who do not have Cystic Fibrosis. These studies have also shown that people who carry the Cystic Fibrosis transmembrane conductance regulator (CFTR) mutations but do not have Cystic Fibrosis, also potentially have a higher risk of developing bowel cancer. The life expectancy of people in the UK with Cystic Fibrosis is increasing and with the introduction of new drugs for these patients, it is likely that it will increase even more. This means therefore that as well as already having an increased risk of developing bowel cancer through having Cystic Fibrosis, by living to an age where bowel cancer is most common, people with Cystic Fibrosis have more of an increased risk of developing bowel cancer.

What did we do?


The number of people with bowel cancer and Cystic Fibrosis was calculated using date from CORECT-R and the linked UK Cystic Fibrosis Registry and Secondary User Services data. Using data from the 100,000 Genomes Project, the presence of CFTR mutations in patients with bowel cancer was measured.

What did we find?


Patients with Cystic Fibrosis and bowel cancer had an average age of 52 years which is significantly younger than in patients without which is an average of 73 years. This study found that people with Cystic Fibrosis are seven times more likely to develop bowel cancer than people without and it also found that the overall rate of CFTR mutations in the bowel cancer population was a lot higher than was expected.

Conclusion:


Cystic Fibrosis is linked to an increased risk of bowel cancer and the rate of CFTR mutations in the bowel cancer population is higher than would be expected. This study shows that further research is needed in order to develop a screening programme for people with Cystic Fibrosis and also people who have the CFTR mutation as their bowel cancers are usually diagnosed before they reach the age where they would be eligible for the national bowel cancer screening programme.

Project outputs

Publication The risk of colorectal cancer in individuals with mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: an English population-based study Rebecca J Birch 1, Daniel Peckham 2, Henry M Wood 3, Philip Quirke 3, Rob Konstant-Hambling 4, Keith Brownlee 5, Rebecca Cosgriff 5, Genomics England Research Consortium 5, Nicholas Burr 6, Amy Downing Journal of Cystic Fibrosis

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