Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481CT p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481CT p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481CT p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.
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机译：背景：遗传突变是结肠Ca发病机制的重要因素。家族性腺瘤性息肉（FAP）是一种常染色体显性遗传性疾病，其特征在于多种结直肠腺瘤息肉，影响家庭中的许多病例。本报告重点介绍了具有APC基因的外显子4突变的衰减家族性腺瘤性息肉（AFAP）的家庭，C.481C> T P.Q161X。方法：通过AFAP分析了一个家庭的20名成员。收集临床和内窥镜数据进行表型测定。还通过直接测序APC基因进行遗传分析。结果：发现了5例AFAP表型患者。在第二代具有基因型突变的第二代中展示了内窥镜息肉，其疾病（年龄> 50岁）与AFAP中延迟的表型腺瘤菌粘膜蛋白组成一致。在APC基因的外显子4中鉴定APC基因突变，具有C.481C> T P.161X的突变点。进行腹腔镜畸形胚胎切除术以防止致癌作用。结论：报告了一个患有APC的APC的腺体腺瘤菌，C.481C> T P.Q161X有关的A族，并通过内窥镜检查证实了表型发现。由于已成年早期的微妙或无症状表型介绍，遗传突变分析在AFAP中对于长期结肠癌预防和管理是有利的。
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