Age of diagnosis in familial Barrett's associated neoplasia.
Age of diagnosis in familial Barrett's associated neoplasia.
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DOI：
10.1007/s10689-021-00239-z
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发表时间：
2022-01
期刊：
影响因子：
2.2
通讯作者：
中科院分区：
文献类型：
--
作者：
食管腺癌（EAC）及其前体Barrett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易感基因的努力集中在具有三个或更多个受影响成员的家庭，因为这些个体与非家族性个体相比具有更早的发病年龄。考虑到BE的使用可能会高估疾病遗传性的可能性，我们评估了仅包括确诊的高度异型增生（HGD）或EAC在内的限制性定义的kinetics的诊断年龄。家族性巴雷特食管协会数据库用于识别HGD和EAC患者。这些个体随后被分为三个亲属组：非家族性-一个受影响的家庭成员，两个受影响的家庭成员，和多重-三个或更多受影响的家庭成员。癌症诊断的年龄和其他危险因素在这些群体中的个体之间进行了比较。该研究包括441名非家族性，46名双重和13名多重个体。与非家族性和双重家族相比，多重家族中个体的诊断年龄存在统计学显著差异（56.0 vs 64.3，63.5; p = 0.049）。人口学因素及其他癌症危险因素在不同家庭类型间差异无统计学意义。本研究的结果支持家族性Barrett's相关瘤形成的遗传基础，对这种疾病的遗传易感性的评估应继续关注有多个（三个或更多）受影响成员的家庭。
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.
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