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在APC促进体1B中发生的新型插入/删除与胃和结肠多样性有关

Frankie Fann¹, Marcy Richardson¹, Douglas Riegert-Johnson²

¹Ambry Genetics, 1 Enterprise, Aliso Viejo, CA, 92656, USA.

Familial cancer

|September 5, 2025

概括

一种新的APC基因变异在一个大家庭中导致胃腺癌和胃近端多重症 (GAPPS) 和家族性腺瘤多重症 (FAP). 这一发现挑战了当前的指导方针,建议在患有类似APC变异的患者中结合胃癌和结肠癌风险管理.

科学领域:

遗传学
癌症学
胃肠病学

背景情况:

家庭腺瘤多重症 (FAP) 与APC基因变异有关,导致结肠多重症和结肠直肠癌.
胃腺癌和胃近端多重症 (GAPPS) 与特定的APC促进物1B变体有关,导致胃癌.
目前的指导方针通常将FAP和GAPPS视为不同的疾病,对其表型重叠的理解有限.

研究的目的:

报告一种新的APC促进物1B插入/删除 (indel) 变体.
描述一个表现出混合GAPPS和FAP表型的家族.
评估对风险管理和查指南的临床影响.

主要方法:

多个诊所和实验室的合作.
一种新型APC的基因分析 (c.-192_-191delATinsTAGCAAGGG).
通过四代人的血统分析来追踪表型和变异遗传.

主要成果:

在促进物1BY1结合基因中发现了以前未被描述的APC基因.
这种变异与GAPPS和FAP表型共同分离.
观察到早期出现的胃多重症和癌症 (11至13岁的预防性胃切除术) 和显著的结肠多重症 (60%的携带者需要切除术).

结论:

一种新型的APC可以引起同时发生的GAPPS和FAP.
胃多重症的早期发病需要比目前的指导方针更早地进行查.
患有类似的APC促进物1B变体的患者需要全面的胃癌和结肠癌风险管理.

关键词:

在APC推广者1B 癌症风险管理遗传性多重症监督指南

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