A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review
| العنوان: | A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review |
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| المؤلفون: | Xiaolin Hou, Xuelai He, Zimeng Ye, Bo Gong, Luo Liang, Peixi Liu, Nengyi Hou, Jialiang Yang, Yijun Liu, Junwen Fu, Kang Wang, Minghui Pang |
| المصدر: | Molecular Medicine Reports |
| بيانات النشر: | Spandidos Publications, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, Models, Molecular, 0301 basic medicine, Cancer Research, Gene Expression, Biochemistry, Protein Structure, Secondary, 0302 clinical medicine, Frameshift Mutation, Sanger sequencing, Genetics, biology, High-Throughput Nucleotide Sequencing, Autosomal dominant trait, Exons, Articles, Middle Aged, Pedigree, Adenomatous Polyposis Coli, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), symbols, Molecular Medicine, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Adenomatous polyposis coli, Genetic counseling, Adenomatous Polyposis Coli Protein, Steatocystoma Multiplex, Frameshift mutation, Familial adenomatous polyposis, 03 medical and health sciences, symbols.namesake, Germline mutation, Asian People, familial adenomatous polyposis, medicine, Humans, Genetic Predisposition to Disease, neoplasms, Molecular Biology, Genetic Association Studies, Aged, Base Sequence, heterozygous mutation, medicine.disease, digestive system diseases, 030104 developmental biology, Case-Control Studies, biology.protein, next-generation sequencing |
| الوصف: | Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next-generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP. Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co-segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. To the best of our knowledge, this mutation has not been reported prior to the present study. In addition, it was correlated with extra-colonic phenotypes featuring duodenal polyposis and sebaceous cysts in this family. This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future. |
| تدمد: | 1791-3004 1791-2997 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d161e861e65167815b4ca68c868426Test https://doi.org/10.3892/mmr.2018.9130Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d9d161e861e65167815b4ca68c868426 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17913004 17912997 |
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