The identification of hereditary cancer genes for esophageal adenocarcinoma (EAC) and its precursor, Barrett’s esophagus (BE), may prove critical for the development of novel prevention and treatment strategies. Specifically, efforts for detecting BE and EAC susceptibility genes have focused on families with three or more affected members, since these individuals have an earlier age onset compared to non-familial individuals. Given that the use of BE may overestimate the likelihood of disease heritability, we evaluated the age of diagnosis in kindreds with a restricted definition including only confirmed high-grade dysplasia (HGD) or EAC. The Familial Barrett’s Esophagus Consortium database was used to identify individuals with HGD and EAC. These individuals were subsequently split into three kindred groups: non-familial—a single affected family member, duplex—two affected family members, and multiplex—three or more affected family members. Age of cancer diagnosis and other risk factors were compared between individuals in these groups. The study included 441 non-familial, 46 duplex, and 13 multiplex individuals. There was a statistically significant difference for age of diagnosis for individuals in the multiplex families compared to the non-familial and duplex families (56.0 versus 64.3, 63.5; p = 0.049). There was no significant difference between demographic factors and other cancer risk factors between family types. The results of this study support a genetic basis for familial Barrett’s associated neoplasia and evaluation of the genetic susceptibility to this disease should continue to focus on families with multiple (three or more) affected members.

食管腺癌 (EAC) 及其前体巴雷特食管 (BE) 的遗传性癌症基因的鉴定可能对开发新的预防和治疗策略至关重要。具体而言，检测 BE 和 EAC 易感基因的工作主要集中在具有三个或更多受影响成员的家庭，因为与非家族个体相比，这些个体的发病年龄更早。鉴于 BE 的使用可能高估了疾病遗传的可能性，我们评估了具有限制性定义的亲属的诊断年龄，包括仅确诊的高度异型增生 (HGD) 或 EAC。Familial Barrett's Esophagus Consortium 数据库用于识别患有 HGD 和 EAC 的个体。这些人随后被分成三个同类群体：非家族性——一个受影响的家庭成员，双重的——两个受影响的家庭成员，以及多重的——三个或更多受影响的家庭成员。比较了这些组中个体的癌症诊断年龄和其他危险因素。该研究包括 441 名非家族性个体、46 名双重个体和 13 名多重个体。与非家族和双工家庭相比，多重家庭中个体的诊断年龄存在统计学显着差异（56.0 对 64.3、63.5；p = 0.049）。家庭类型之间的人口统计因素和其他癌症危险因素之间没有显着差异。