Leeds Institute of Medical Research at St James's, University of Leeds; Leeds Institute for Data Analytics, University of Leeds.
Leeds Institute of Medical Research at St James's, University of Leeds; Leeds Teaching Hospitals NHS Trust.
J Cyst Fibros. 2023 May;22(3):499-504. doi: 10.1016/j.jcf.2022.10.001. Epub 2022 Oct 15.
Studies have demonstrated a higher risk of developing colorectal cancer (CRC) in individuals with Cystic Fibrosis (CF), and also a potentially increased risk in carriers of cystic fibrosis transmembrane conductance regulator (CFTR) mutations. Life expectancy for those with CF is rising, increasing the number at risk of developing CRC.
The incidence of CRC amongst individuals with CF was calculated using data from CORECT-R and linked UK CF Registry and Secondary User Services (SUS) data. Crude, age-specific and age-standardised rates were compared to those without CF. The presence of CFTR mutations in individuals with CRC was assessed using 100,000 Genomes Project data.
The crude incidence rate of CRC in the CF population was 0.29 per 1,000 person-years (28 cases). The CF population were significantly younger than those without (median age at CRC diagnosis 52 years versus 73 years; p<0·01). When age-adjusted, there was a 5-fold increased CRC incidence amongst individuals with CF compared to those without (SIR 5.0 95%CI 3.2-6.9). When compared to other population studies the overall prevalence of CFTR mutations in the CRC population was significantly higher than expected (p<0·01).
CF is linked to an increased risk of CRC. The incidence of CFTR mutations in the CRC population is higher than would be expected, suggesting an association between CFTR function and CRC risk. Further research is needed to develop effective screening strategies for these populations.
Cancer Research UK (grants C23434/A23706 & C10674/A27140).
研究表明，囊性纤维化（CF）患者发生结直肠癌（CRC）的风险较高，囊性纤维化跨膜电导调节因子（CFTR）突变携带者也存在潜在的更高风险。CF 患者的预期寿命正在延长，这增加了发展 CRC 的风险人群数量。
利用 CORECT-R 研究以及英国 CF 注册处和二级用户服务（SUS）的数据，计算 CF 患者 CRC 的发病率。将粗发病率、年龄特异性发病率和年龄标准化发病率与无 CF 患者进行比较。使用 10 万基因组计划的数据评估 CRC 患者 CFTR 突变的存在情况。
CF 人群的 CRC 粗发病率为 0.29/1000 人年（28 例）。CF 人群的年龄明显低于无 CF 人群（CRC 诊断时的中位年龄为 52 岁与 73 岁；p<0·01）。年龄调整后，CF 患者的 CRC 发病率是无 CF 患者的 5 倍（SIR 5.0，95%CI 3.2-6.9）。与其他人群研究相比，CRC 人群中 CFTR 突变的总体患病率明显高于预期（p<0·01）。
CF 与 CRC 风险增加相关。CRC 人群中 CFTR 突变的发生率高于预期，提示 CFTR 功能与 CRC 风险之间存在关联。需要进一步研究以制定这些人群的有效筛查策略。
英国癌症研究中心（赠款 C23434/A23706 和 C10674/A27140）。
