Highlights
- •After accounting for differing age profiles there is a 5-fold increased incidence of colorectal cancer in individuals with CF.
- •The prevalence of CFTR mutations appears higher amongst individuals with colorectal cancer compared to the background population.
Abstract
Background
Methods
Findings
Interpretation
Funding
1. Introduction
Cystic Fibrosis Trust. UK distribution of cystic fibrosis. 2020. https://www.cysticfibrosis.org.uk/the-work-we-do/uk-cf-registry/reporting-and-resources/uk-distribution-of-cystic-fibrosis.
Clinical and functional translation of CFTR. CFTR2 variant list history. https://cftr2.org/mutations_history. Accessed: 16/12/2021.
Cancer research UK. Bowel cancer incidence by age. 2021. https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/bowel-cancer/incidence#heading-One.
2. Methods
2.1 Data
University of Oxford. UK Colorectal Cancer Intelligence Hub. 2020. https://www.ndph.ox.ac.uk/corectr/about.
2.2 CORECT-R
British Lung Foundation. Emergency Hospital Admissions. 2021. https://statistics.blf.org.uk/cystic-fibrosis.
2.3 UK CF registry
- Strongman H.
- Williams R.
- Bhaskaran K.
2.4 Population figures
2.5 Genomics analysis
2.6 Statistical analysis
2.6.1 Characteristics of the population
2.7 Crude incidence rates
2.8 Age-specific incidence rates
2.9 Genomics analysis
2.10 Role of the funding source
3. Results
3.1 Characteristics of the population
Cystic fibrosis | No cystic fibrosis | P value | ||||
---|---|---|---|---|---|---|
n | % | n | % | |||
Median age at CRC diagnosis (IQR) | 52 (40–68) | 73 (63–81) | 0·001 | |||
Age at CRC diagnosis | <40 | 7 | 25.0 | 7316 | 2.0 | 0.001 |
40–49 | 6 | 21.4 | 13,674 | 3.8 | ||
50–69 | 8 | 28.6 | 129,125 | 35.4 | ||
≥70 | 7 | 25.0 | 214,287 | 58.8 | ||
Sex | Male | 11 | 39·3 | 202,128 | 55·5 | |
Female | 17 | 60·7 | 162,271 | 44·5 | 0·09 | |
Tumour site | Right colon | 14 | 50·0 | 121,759 | 33·4 | |
Left colon | 8 | 28·6 | 96,741 | 26·6 | ||
Other* | 6 | 21·1 | 145,899 | 40·4 | 0·09 | |
Total | 28 | 364,399 |
3.2 Crude incidence rates
Observed cases of CRC | Expected cases of CRC | Crude rate (per 1000 person-years) (95%CI) | SIR (95%CI) | |
---|---|---|---|---|
CORECT-R data | ||||
Cystic fibrosis | 28 | 5·57 | 0.29 (0.19–0.41) | 5.0 (3.2–6.9) |
No cystic fibrosis | 364,399 | – | 0.62 (0.62–0.62) |
3.3 The SIR demonstrated a significantly increased incidence of CRC amongst individuals with CF when compared to those without (SIR 5.0 (95%CI 3.2–6.9) (Table 2).Age-specific incidence rates
Incidence rate per 1000 person-years | Rate difference | ||
---|---|---|---|
Age group | Cystic fibrosis | No cystic fibrosis | |
<40 | 0.08 | 0.02 | 0.06 |
40–49 | 0.90 | 0.16 | 0.73 |
50–69 | 2.60 | 0.95 | 1.65 |
≥70 | 24.92 | 3.06 | 21.86 |
3.4 Genomics analysis
Variant legacy name | Number of patients | % |
---|---|---|
Wild type (no CFTR mutations) | ||
Wt | 1882 | 93.0 |
Heterozygous mutations of CFTR gene | 62 | 7.0 |
F508del | 62 | 3·1 |
R117H | 18 | 0·9 |
L967S | 7 | 0·3 |
P750L | 6 | 0·3 |
A349V | 4 | 0·2 |
621+1G->T | 3 | 0·1 |
296+28A->G | 3 | 0·1 |
4. Discussion
Ethics
Author contributions
Data sharing
Acknowledgements
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