Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction
Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction
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DOI：
10.1158/1055-9965.epi-06-0293
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发表时间：
2006-09-01
影响因子：
3.8
通讯作者：
Eng, Charis
中科院分区：
文献类型：
--
作者：
Chak, Amitabh;Ochs-Balcom, Heather;Eng, Charis
背景和目的：Barrett食管、食管腺癌和胃食管交界处腺癌的家族聚集性，统称为家族性Barrett食管，可能代表了一种复杂的遗传特征。本研究的目的是确定患有家族性 Barrett 食管的患有这些疾病的患者的比例。方法：使用结构化调查问卷从六家医院收集了有关胃食管反流症状、Barrett 食管已知危险因素以及 Barrett 食管和癌症家族史的信息，这些信息来自患有长段 Barrett 食管、腺癌的先证者。 食管癌，或胃食管连接部腺癌。通过审查所有报告受影响亲属的病历来确定一级或二级亲属的巴雷特食管或食管癌家族史。结果：411 名先证者中的 71 名 (17.3%) 报告有受影响的一级和/或二级亲属。审查据报告受影响的亲属的医疗记录后，最终确定 30 名先证者 (7.3%) 患有家族性巴雷特食管，其中 276 名先证者中的 17 名 (6.2%) 患有巴雷特食管，116 名先证者中的 11 名 (9.5%) 患有食管腺癌，21 名先证者中的 2 名 (9.5%) 患有食管腺癌。胃食管交界处。先证者报告的受影响亲属中有 15 例 (3.6%) 的诊断结果不是巴雷特食管或腺癌。在先证者报告有受影响亲属的 26 例 (6.3%) 病例中无法确定诊断。明确的家族性 Barrett 食管先证者和非家族性 Barrett 食管先证者在发病年龄、性别、种族或胃食管反流症状方面没有显着差异。结论：7.3% 的 Barrett 食管、食管腺癌或胃食管腺癌患者可确诊为家族性 Barrett 食管。 胃食管交界处。
Background and Aim: The familial aggregation of Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction, jointly termed familial Barrett's esophagus, may represent a complex genetic trait. The aim of this study was to determine the proportion of patients with these diseases who have familial Barrett's esophagus.Methods: Information on gastroesophageal reflux symptoms, known risk factors for Barrett's esophagus, and family history of Barrett's esophagus and cancers, was collected at six hospitals using a structured questionnaire from probands with either long-segment Barrett's esophagus, adenocarcinoma of the esophagus, or adenocarcinoma of the gastroesophageal junction. Family history of Barrett's esophagus or esophageal cancer in a first- or second-degree relative was determined by reviewing medical records of all relatives reported to be affected.Results: Seventy one of 411 (17.3%) probands reported an affected first- and/or second-degree relative. Upon review of medical records of the reportedly affected relatives, familial Barrett's esophagus was definitively determined in the case of 30 (7.3%) probands comprising 17 of 276 (6.2%) with Barrett's esophagus, 11 of 116 (9.5%) with adenocarcinoma of the esophagus, and 2 of 21 (9.5%) with adenocarcinoma of the gastroesophageal junction. The diagnosis in the relative reported by the proband to be affected was found not to be Barrett's esophagus or adenocarcinoma in 15 (3.6%) cases. The diagnosis could not be determined in 26 (6.3%) cases in which the proband reported an affected relative. There were no significant differences in age of disease onset, gender, race, or gastroesophageal reflux symptoms between definitive familial Barrett's esophagus probands and nonfamilial probands.Conclusion: Familial Barrett's esophagus can be confirmed in 7.3% of persons presenting with Barrett's esophagus, adenocarcinoma of the esophagus, or adenocarcinoma of the gastroesophageal junction.