A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
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Shan-Shan Jiang1,*, Jian-Jun Li2,*, Yin Li2,*, Long-Jun He2, Qi-Jing Wang1, De-Sheng Weng1, Ke Pan1, Qing Liu1, Jing-Jing Zhao1, Qiu-Zhong Pan1, Xiao-Fei Zhang1, Yan Tang1, Chang-Long Chen1, Hong-Xia Zhang1, Guo-Liang Xu2, Yi-Xin Zeng1, Jian-Chuan Xia1
1Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China
2Department of Endoscopy, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou, China
*These authors have contributed equally to this work
Jian-Chuan Xia, e-mail: [email protected]
Yi-Xin Zeng, e-mail: [email protected]
Keywords: APC gene, familial adenomatous polyposis, exon deletion, targeted next-generation sequencing, chinese population
Received: June 04, 2015 Accepted: July 17, 2015 Published: July 30, 2015
Familial adenomatous polyposis (FAP) is an autosomal dominant disease manifesting as colorectal cancer in middle-aged patients. Mutations of the adenomatous polyposis coli (APC) gene contribute to both FAP and sporadic or familial colorectal carcinogenesis. Here we describe the identification of the causative APC gene defects associated with FAP in a Chinese pedigree. All patients with FAP were diagnosed by their combination of clinical features, family history, colonoscopy, and pathology examinations. Blood samples were collected and genomic DNA was extracted. Mutation analysis of APC was conducted by targeted next-generation sequencing, long-range PCR and Sanger sequencing. A novel mutation in exon 14–15(c.1936-2148 del) and intron 14 of the APC gene was demonstrated in all FAP patients and was absent in unaffected family members. This novel deletion causing FAP in Chinese kindred expands the germline mutation spectrum of the APC gene in the Chinese population.
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