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Chinese Journal of Digestion and Medical Imageology(Electronic Edition) ›› 2022, Vol. 12 ›› Issue (04): 220-223. doi: 10.3877/cma.j.issn.2095-2015.2022.04.006

• Original Article • Previous Articles     Next Articles

Analysis of five families with adenomatous polyposis

Xiaojin Yang1, Ting Li2, Boer Cai3, Yunlin Wu3, Ping Chen3, Cuiping Yang3,()   

  1. 1. Department of Infection Control, Jiujiang First People's Hospital, Jiujiang 332000, China; School of Public Health, Xi'an Jiaotong University, Xi'an 710061, China
    2. Department of Pathology, Affiliated Hospital of Jiujiang University, Jiujiang 332000, China
    3. Department of Gastroenterology, North District of Ruijin Hosptial, Shanghai Jiao Tong University School of Medicine, Shanghai 201801, China
  • Received:2022-06-18 Online:2022-08-01 Published:2022-10-18
  • Contact: Cuiping Yang

Abstract:

Objective

To analyze the autosomal dominant inheritance of five families of adenomatous polyposis (FAP).

Methods

Five FAP families were investigated and examined. Peripheral blood and feces were taken for whole-exon sequencing to screen colorectal cancergenes. Colonoscopy was performed and biopsy tissues were taken for pathological analysis.

Results

In the five families, FAP occurred in successive generations. When the father or mother had FAP, the probability of FAP occurred in the offspring was equal (50%) without gender difference. All the patients had adenomatous polyposis coli gene (APC) mutation. Some patients had more than two types of tumors.

Conclusions

In families with a history of FAP, FAP generally does not develop in juveniles, and APC gene testing and colonoscopy are needed in adults. Once adenoma is found, endoscopic treatment should be performed as soon as possible to avoid the occurrence of colorectal cancer.

Key words: Familial adenomatous polyposis, Adenomatous polyposis gene, Colon cancer, Whole exon sequencing, Colonoscopy, Endoscopic treatment

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