Family history of esophageal cancer increases the risk of esophageal squamous cell carcinoma

TLDR

Future studies are needed to understand how shared genetic susceptibility and/or environmental exposures contribute to the excess risk of esophageal squamous cell carcinoma. The study aimed to investigate familial aggregation of esophageal squamous cell carcinoma through a population-based case‑control design. Family history of esophageal cancer was assessed via structured questionnaire, cohorts of relatives were reconstructed, and unconditional logistic regression and Cox proportional hazards regression were used to analyze case‑control and cohort data. A positive family history of esophageal cancer nearly doubled ESCC risk (OR = 1.85), with risk escalating with more affected first‑degree relatives and an eightfold increase when both parents were affected; cumulative risk to age 75 was 12.2% versus 7.0% in controls, indicating a significant familial risk.

Abstract

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.