title: A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.
abstract: 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.
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Shan-Shan
authors: SS
authors: Jiang
authors: Department of Endoscopy, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou, China.
authors: Jian-Jun
authors: JJ
authors: Li
authors: Department of Endoscopy, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou, China.
authors: Yin
authors: Y
authors: Li
authors: Department of Endoscopy, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou, China.
authors: Long-Jun
authors: LJ
authors: He
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Qi-Jing
authors: QJ
authors: Wang
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: D Sheng
authors: DS
authors: Weng
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Ke
authors: K
authors: Pan
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Qing
authors: Q
authors: Liu
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Jing-Jing
authors: JJ
authors: Zhao
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Qiu-Zhong
authors: QZ
authors: Pan
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Xiao-Fei
authors: XF
authors: Zhang
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Yan
authors: Y
authors: Tang
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Chang-Long
authors: CL
authors: Chen
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Hong-Xia
authors: HX
authors: Zhang
authors: Department of Endoscopy, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangzhou, China.
authors: Guo-Liang
authors: GL
authors: Xu
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Yi-Xin
authors: YX
authors: Zeng
authors: Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
authors: Jian-Chuan
authors: JC
authors: Xia
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000208:ethnology* / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005192:Family Health; D005260:Female; D017491:Genes, APC; D018095:Germ-Line Mutation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; D017931:DNA Primers
keywords: APC gene; Chinese population; exon deletion; familial adenomatous polyposis; targeted next-generation sequencing