| Title: | Cystic fibrosis F508del carriers and cancer risk: Results from the UK Biobank |
| Journal: | International Journal of Cancer |
| Published: | 18 Dec 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33300603/ |
| DOI: | https://doi.org/10.1002/ijc.33431 |
| URL: | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.33431 |
| Citations: | 16 (6 in last 2 years) as of 8 Aug 2024 |
Publication 12887
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Abstract
Cystic fibrosis (CF) carriers carrying one defective copy of a CFTR germline mutation are common in the general population. A recent study reported associations of CF carriers with risk for cancers of digestive organs and pancreatic cancer. In the current study, we assessed associations of CFTR F508del carriers with the risk for 54 types of cancers in the UK Biobank, a large population-based study. In Caucasians, compared to the carrier rate of 3.15% (12 357/392274) in noncancer subjects, the rate was significantly higher in cancer patients overall (2621/79619 = 3.29%), especially in patients with colorectal cancer (247/6667 = 3.70%), cancers of gallbladder and biliary tract (21/351 = 5.98%), thyroid cancer (30/665 = 4.51%) and unspecified non-Hodgkin's lymphoma (74/1805 = 4.10%), all P ≤ .05. In contrast, the carrier rate in patients with cancers of lung and bronchus was significantly lower (89/3463 = 2.57%), P = .05. The association of CFTR F508del carriers with these types of cancer remained significant after adjusting for respective cancer-specific risk factors. For pancreatic cancer, although a higher carrier rate (38/1004 = 3.78%) was found in patients with this cancer, the difference was not statistically significant (P = .26). This null association was unlikely due to lack of statistical power; the large sample size of our study had >80% power, at a significance level of .05, to detect an association of >1.5-fold increased risk. In conclusion, the identified associations of CFTR F508del carriers with multiple types of cancer may have potential biological and clinical implications if confirmed in independent study populations.</p>
20 Keywords
- Adult
- Aged
- Biological Specimen Banks
- Bronchi
- Colorectal Neoplasms
- Correlation of Data
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Gallbladder Neoplasms
- Humans
- Lung Neoplasms
- Lymphoma, Non-Hodgkin
- Male
- Middle Aged
- Neoplasms
- Risk Factors
- Sequence Deletion
- Thyroid Neoplasms
- United Kingdom
9 Authors
- Zhuqing Shi
- Jun Wei
- Rong Na
- W. Kyle Resurreccion
- S. Lilly Zheng
- Peter J. Hulick
- Brian T. Helfand
- Mark S. Talamonti
- Jianfeng Xu
1 Application
| Application ID | Title |
|---|---|
| 50295 | Validity and performance of inherited risk assessment for common diseases using polygenic risk score, family history, and high-penetrance genes |
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