A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis
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Zhao Zhang1,*, Shengran Liang2,*, Hui Huang2,*, Dan Wang3, Xipeng Zhang1, Jing Wu2, Huishuang Chen2, Yanyan Wang2, Tingting Rong2, Yulin Zhou4, Santasree Banerjee2
1Tianjin University of Traditional Chinese Medicine, Department of Colorectal Surgery, Tianjin Union Medical Center, Tianjin 300121, China
2BGI-Shenzhen, Shenzhen 518083, China
3Department of Pathology, Tianjin Medical University General Hospital, Tianjin 300000, China
4Xiamen Prenatal Diagnosis Center, Xiamen Maternal and Child Health Care Hospital, Xiamen 361000, China
*These authors have contributed equally to this work
Santasree Banerjee, email: [email protected]
Yulin Zhou, email: [email protected]
Keywords: familial adenomatous polyposis, APC gene, large exon deletion, targeted next-generation sequencing, colorectal cancer
Received: May 04, 2016 Accepted: June 14, 2016 Published: July 6, 2016
Germline mutations of the APC gene are associated with an autosomal dominant precancerous condition, termed familial adenomatous polyposis (FAP). FAP is clinically manifested by the presence of multiple colorectal adenomas or polyps. Gradually, these colorectal adenomas or polyps inevitably result in colorectal cancer by the third-to fourth decade of life. Surgical interventions or total proctocolectomy is the best possible treatment for FAP. Here, we present a clinical molecular study of a five generation Chinese family with FAP. Diagnosis of FAP was made on the basis of clinical manifestations, family history and medical (colonoscopy and histopathology) records. Blood samples were collected and genomic DNA was extracted. Genetic screening of the APC gene was performed by targeted next-generation sequencing and quantitative real-time PCR. Targeted next generation sequencing identified a novel heterozygous large deletion [exon5-exon16; c.423_8532del] of APC gene, which segregated with the FAP phenotypes in the proband and in all the affected family members. Unaffected family members and normal controls did not carry this deletion. In the Chinese population, most of the previously reported APC gene mutations are missense mutations. This is the first report describing the largest deletion of the APC gene in the Chinese population associated with FAP.
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