Abstract
A population-based case-control was performed to explore familial aggregation of esophageal squamous cell carcinoma (ESCC). Family history of cancer was assessed by a structured questionnaire, and from which 2 cohorts of relatives of cases and controls were reconstructed. Unconditional logistic regression and Cox proportional hazards regression were applied for case-control design and reconstructed cohort design, respectively. We observed a close to doubled risk of ESCC associated with a positive family history of esophageal cancer among first degree relatives (odds ratio [OR] = 1.85, 95% confidence interval [CI]: 1.42–2.41), after adjusting age, sex, family size and other confounders. The excess risks of ESCC increased with the increasing of first-degree relatives affected by esophageal cancer (p < 0.001). In particular, those individuals whose both parents with esophageal cancer had an 8-fold excess risk of ESCC (95% CI: 1.74–36.32). The reconstructed cohort analysis showed that the cumulative risk of esophageal cancer to age 75 was 12.2% in the first-degree relatives of cases and 7.0% in those of controls (hazard ratio = 1.91, 95% CI: 1.54–2.37). Our results suggest family history of esophageal cancer significantly increases the risk for ESCC. Future studies are needed to understand how the shared genetic susceptibility and/or environmental exposures contribute to the observed excess risk.
Highlights
Cohorts of relatives of case and control subjects[12]
The results remained virtually unchanged compared with those in the main analysis. In this large population-based case-control study, we confirmed a strong association between a family history of esophageal cancer and the risk of esophageal squamous cell carcinoma (ESCC)
By the age of 75, it was estimated that about 12% of the first-degree relatives of ESCC patients might develop the malignancy, while the corresponding figure was 7% for those relatives of the normal control subjects
Summary
Exploration for the familial risk of esophageal cancer predominantly uses the case-control design, but rarely the reconstructed cohort design. We estimated whether cases and controls differed with the number of first-degree relatives with cancer. The excess risks of ESCC increased monotonically with the increasing number of first-degree relatives reportedly afflicted with esophageal cancer (p for trend< 0.001).
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