Abstract:
BACKGROUND AND AIM:Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. Patients with FAP are screened for germline mutations of two genes, APC and MUTYH. However, limited data exist on the clinical characterization and genotypic spectrum of FAP in China. This study was aimed to determine APC and MUTYH mutational status in a small cohort of FAP probands in China and to characterize the genotype-phenotype correlation in mutated patients. METHODS:Mutation screening of 46 unrelated probands was performed using multigene panels by next-generation sequencing. Clinical data of the index were used to assess genotype-phenotype correlations. RESULTS:Overall, 42 out of 46 (91.30%) unrelated probands found mutations, including 35 (76.09%) with APC mutations, 3 (6.52%) with MUTYH mutations, and 4 (8.70%) with both APC and MUTYH mutations. Ten APC genetic alterations variants were novel. The hereditary pattern of the family with both APC and MUTYH mutations was autosomal dominant inheritance. Upper gastrointestinal polyp was the most common extracolonic manifestations. The onset time for patients with both APC and MUTYH mutations was earlier than MUTYH mutation carriers and similar to APC mutation carriers. But the age of carcinogenesis for patients with both APC and MUTYH mutations was later than APC mutation carriers and similar to MUTYH mutation carriers. CONCLUSION:In this study, we show the importance of using multigene panels that allow for a parallel comprehensive screening. We suggest that genetic testing of patients with suspected adenomatous polyposis syndromes should include APC and MUTYH gene mutation analyses simultaneously.
journal_name
J Gastroenterol Hepatoljournal_title
Journal of gastroenterology and hepatologyauthors
Li N,Kang Q,Yang L,Zhao XJ,Xue LJ,Wang X,Li AQ,Li CG,Sheng JQdoi
10.1111/jgh.14704subject
Has Abstractpub_date
2019-09-01 00:00:00pages
1497-1503issue
9eissn
0815-9319issn
1440-1746journal_volume
34pub_type
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pub_type: 杂志文章,多中心研究,随机对照试验
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doi:10.1111/j.1440-1746.2008.05440.x
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doi:10.1046/j.1440-1746.2003.03038.x
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pub_type: 杂志文章,评审
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更新日期:2006-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/jgh.13044
更新日期:2016-01-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章,meta分析,评审
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journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2004.03377.x
更新日期:2004-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1440-1746.2006.04752.x
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journal_title:Journal of gastroenterology and hepatology
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doi:10.1111/j.1440-1746.1990.tb01415.x
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journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.13748
更新日期:2017-07-01 00:00:00
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journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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journal_title:Journal of gastroenterology and hepatology
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journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章,meta分析,评审
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