Associations between Cancer Family History and Esophageal Cancer and Precancerous Lesions in High-Risk Areas of China
Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide, with esophageal squamous cell carcinoma (ESCC) being the predominant type in China, accounting for half of the global cases. The development of ESCC is influenced by a combination of environmental and genetic factors. Environmental risk factors include consumption of hot food, smoking, alcohol consumption, nutrient deficiency, poor oral health, and exposure to polycyclic aromatic hydrocarbons. Genetic factors also play a significant role, particularly in high-risk areas of China where family clustering of EC has been observed.
This study aimed to explore the associations between cancer family history and esophageal cancer and precancerous lesions (ECPL) in high-risk areas of China. The research was conducted from 2017 to 2019 in five high-risk areas: Cixian (Hebei), Linzhou (Henan), Feicheng (Shandong), Yangzhong (Jiangsu), and Yanting (Sichuan). These areas were selected due to their high incidence rates of EC, ranging from 35.52 to 81.23 per 100,000 people.
The study enrolled 33,008 permanent residents aged 40 to 69 years who underwent endoscopic examinations. Pathological examinations were performed on suspicious lesions, and information on demographic characteristics, environmental factors, and cancer family history was collected. The study used unconditional logistic regression to evaluate the odds ratios (ORs) between family history-related factors and ECPL.
Among the participants, 6,143 (18.61%) reported a positive family history of EC. The proportion of positive family history varied significantly among the high-risk areas, with Yanting having the lowest proportion (11.86%) and Linzhou the highest (26.56%). After adjusting for risk factors, participants with a family history of any cancer, gastric and esophageal cancer (GEC), or EC had 1.49-fold (95% CI: 1.36–1.62), 1.52-fold (95% CI: 1.38–1.67), and 1.66-fold (95% CI: 1.50–1.84) higher risks of ECPL, respectively. Participants with single or multiple first-degree relatives (FDR) with a positive EC history had 1.65-fold (95% CI: 1.47–1.84) or 1.93-fold (95% CI: 1.46–2.54) higher risks of ECPL, respectively. Additionally, participants with FDRs who developed EC before the ages of 35, 45, and 50 had 4.05-fold (95% CI: 1.30–12.65), 2.11-fold (95% CI: 1.37–3.25), and 1.91-fold (95% CI: 1.44–2.54) higher risks of ECPL, respectively.
The study also found that the risk of ECPL increased with the number of EC-positive FDRs and the early onset of EC in family members. The proportion of esophagitis/basal cell hyperplasia (BCH) was higher in individuals with early-onset EC relatives, suggesting a faster pathological progression in these individuals.
The findings of this study provide strong evidence that a positive family history of EC significantly increases the risk of ECPL in high-risk areas of China. This risk is further elevated with the number of EC-positive FDRs and the early onset of EC in family members. The study highlights the importance of genetic risk factors in the development of EC and underscores the need for further genetic epidemiologic research to explore the unique etiology of EC in these populations.
The study’s strengths include the use of detailed family history information and pathological diagnoses data from multiple high-risk areas in China. However, limitations include potential recall bias in the questionnaire data and the possibility that people in high-risk areas may be more likely to report positive family history. Despite these limitations, the study’s findings are consistent with previous research and provide valuable insights into the role of family history in EC risk.
In conclusion, this study demonstrates that a positive family history of EC is a significant risk factor for ECPL in high-risk areas of China. The risk increases with the number of EC-positive FDRs and the early onset of EC in family members. These findings have important implications for the identification of high-risk populations and the development of targeted prevention and screening programs for EC in high-risk areas of China.
doi.org/10.1097/CM9.0000000000001939
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