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

Birch, Rebecca; Peckham, D.; Wood, Henry M.; Quirke, Philip; Konstant-Hambling, Rob; Brownlee, K.; Cosgriff, Rebecca; Consortium, Genomics England Research; Burr, Nicholas; Downing, Amy

doi:10.1016/j.jcf.2022.10.001

Cited by 11 publications

(12 citation statements)

References 25 publications

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“…Partial correction of CFTR may prove to be advantageous in reducing the risk of CRC in the longer term; however, there is an increased risk of CRC associated with an ageing population. Birch et al demonstrated than not only are pwCF at increased risk of CRC but the risk is higher with certain CFTR mutations 19. Further work is required to establish the association between CFTR mutations and cancer risk.…”

Section: Discussionmentioning

confidence: 99%

Identifying the need for a UK colorectal cancer screening programme for patients with cystic fibrosis (CF): 10-year retrospective review of colonoscopy and colorectal cancer outcomes at a single CF centre

Sapru,

Barry,

Jones

et al. 2023

BMJ Open Gastroenterol

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ObjectivePatients with cystic fibrosis (pwCF) have a high incidence of early colorectal cancer (CRC). In the absence of a UK CRC screening programme for pwCF, we evaluated the utility and outcomes of colonoscopy and CRC at a large UK CF centre.DesignIn a retrospective study of colonoscopy and CRC outcomes between 2010 and 2020 in pwCF aged≥30 years at a large CF centre, data were collected on colonoscopy indications and findings, polyp detection rates, bowel preparation regimens and outcomes, colonoscopy completion rates, and patient outcomes.ResultsWe identified 361 pwCF aged ≥30 years, of whom 135 were ≥40 years old. In the absence of a UK CRC screening guideline only 33 (9%)/361 pwCF aged ≥30 years (mean age: 44.8±11.0 years) had a colonoscopy between 2010 and 2020. Colonoscopy completion rate was 94.9%, with a 33% polyp detection rate, 93.8% of the polyps retrieved were premalignant. During the study period no patients developed postcolonoscopy CRC. However, of the patients aged ≥40 years who did not have a colonoscopy (111/135, 82.2%), four (3.6%) patients developed CRC and three pwCF died from complications of CRC.ConclusionIn this 10-year experience from a large CF centre, colonoscopy uptake for symptomatic indications was low, yet of high yield for premalignant lesions in pwCF >40 years. These data highlight the risk of potentially preventable, early CRC, and therefore support the need for prospective, large-scale nationwide studies which may inform the need for UK CRC screening guidelines for pwCF.

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Section: Discussionmentioning

confidence: 99%

Identifying the need for a UK colorectal cancer screening programme for patients with cystic fibrosis (CF): 10-year retrospective review of colonoscopy and colorectal cancer outcomes at a single CF centre

Sapru,

Barry,

Jones

et al. 2023

BMJ Open Gastroenterol

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“…Recent population-based research suggests a fivefold increase in colon cancer among pwCF. 117 Diet can play an important role in the development of colorectal cancer, and long-term dietary habits, such as excess processed meats, may be a contributor. 118 Low dietary fibre intake is also known to be associated with risk of colon cancer, 8,119 and it is already established that children with CF can have low-fibre intakes.…”

Section: Cancermentioning

confidence: 99%

“…Recent population‐based research suggests a fivefold increase in colon cancer among pwCF 117 . Diet can play an important role in the development of colorectal cancer, and long‐term dietary habits, such as excess processed meats, may be a contributor 118 .…”

Section: Introductionmentioning

confidence: 99%

Evolution of nutritional management in children with cystic fibrosis – a narrative review

Smith,

Lowdon,

Noordhoek

et al. 2024

J Human Nutrition Diet

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Nutrition has played a central role in the management and outcomes of people with cystic fibrosis (pwCF) since the 1970s. Advances in therapies and practices in recent decades have led to a significant change in the patient landscape with dramatic improvements in life expectancy, as well as quality of life, bringing with it new issues. Historically, cystic fibrosis was a condition associated with childhood and malnutrition; however, changes in patient demographics, nutritional assessment and fundamental nutritional management have evolved, and it has become an increasingly prevalent adult disease with new nutritional challenges, including obesity. This paper aims to describe these changes and the impact and challenges they bring for those working in this field. Nutritional professionals will need to evolve, adapt and remain agile to the wider range of situations and support required for a new generation of pwCF. Specialised nutrition support will continue to be required, and it will be additionally important to improve and optimise quality of life and long‐term health.

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“…With the advent of modulators and increased survival of individuals with cystic fibrosis, it is time to re-examine the diet recommended to pwCF. The legacy "high fat high calorie high salt" diet for all may now have negative long-term consequences for pwCF in the era of improved survival-such as an increased risk of colorectal cancer, 15 metabolic disease, dyslipidaemia, type 2 diabetes, and cardiovascular disease. 16 1.1.1 | How should we assess nutrition?…”

Section: Current State Of Nutritional Managementmentioning

confidence: 99%

SHIFTing goals in cystic fibrosis—managing extrapulmonary disease in the era of CFTR modulator therapy; Proceedings of the International Shaping Initiatives and Future Trends (SHIFT) Symposium

O'Donnell,

Hastings,

Briody

et al. 2024

Pediatric Pulmonology

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BackgroundCystic fibrosis (CF) is a life‐shortening multisystem genetic disease. Although progressive pulmonary disease is the predominant cause of morbidity and mortality, improvements in treatment for CF‐related lung disease, with associated increase in longevity, have increased the prevalence of extrapulmonary manifestations1.MethodsTo discuss these issues, a multidisciplinary meeting of international leaders and experts in the field was convened in November 2021 at the Shaping Initiatives and Future Trends Symposium with the goal of highlighting shifting management paradigms in CF. The main topics covered were: (1) nutrition and obesity, (2) exocrine pancreas, (3) CF‐related diabetes, (4) CF liver disease, (5) CF‐related bone disease, and (6) post‐lung transplant care. This document summarizes the proceedings, highlighting the key priorities and important research questions that were discussed.ResultsImproved life expectancy, the advent of cystic fibrosis transmembrane conductance regulator modulators, and the increasing appreciation of the heterogeneity or spectrum of disease are leading to a shift in management for patients with cystic fibrosis. Care should be individualized to ensure that increased longevity is accompanied by improved extra‐pulmonary care and reduced morbidity.

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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

Cited by 11 publications

References 25 publications

Identifying the need for a UK colorectal cancer screening programme for patients with cystic fibrosis (CF): 10-year retrospective review of colonoscopy and colorectal cancer outcomes at a single CF centre

Identifying the need for a UK colorectal cancer screening programme for patients with cystic fibrosis (CF): 10-year retrospective review of colonoscopy and colorectal cancer outcomes at a single CF centre

Evolution of nutritional management in children with cystic fibrosis – a narrative review

SHIFTing goals in cystic fibrosis—managing extrapulmonary disease in the era of CFTR modulator therapy; Proceedings of the International Shaping Initiatives and Future Trends (SHIFT) Symposium

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