Family history of BE, esophageal adenocarcinoma links to increased risk
“Although the vast majority of BE and esophageal adenocarcinoma (OAC) cases are sporadic and caused by somatic mutations, several reports of families with multiple affected relatives suggest that there may be an underlying genetic susceptibility,” Yonne Peters, Radboud University Medical Center Nijmegen, the Netherlands, and colleagues wrote. “Precise and valid evidence-based risk estimates for individuals with a family history of BE or OAC are needed to improve genetic counselling, provide rational advice, develop risk prediction models and to determine appropriate screening strategies.”
In a systematic review and meta-analysis, researchers examined 16 studies comprising 1,623 patients with BE and 998 patients with OAC that investigated the prevalence and implications of familial BE or OAC. Peters and colleagues observed familial clustering in 8.84% of patients (95% CI, 5.54-13.82) with BE and 4.37% of patients (95% CI, 2.15-8.69) with OAC. While screening first-degree relatives of patients with BE showed a diagnostic yield between 12% and 44%, the diagnostic yield screening for high-grade dysplasia and OAC was less than 2%. Patients with a positive family history had a higher risk for diagnosis of BE (adjusted RR = 3.26; 95% CI, 1.43-7.4) and OAC (aRR = 2.19; 95% CI, 1.14-4.21) vs. patients with a negative family history.
“Familial aggregation is observed in a small but important subgroup of patients with BE and OAC. The currently available evidence identified a verified positive family history as a strong risk factor for BE and OAC,” Peters and colleagues concluded. “A confirmed family history of having at least two affected first-degree relatives and/or family history combined with other risk factors for BE and OAC can be used to identify individuals in which (endoscopic) screening might be considered to prevent OAC-related mortality.”