2018
DOI: 10.1186/s12881-018-0701-y
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Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

Abstract: BackgroundFamilial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP is caused by germ line mutations in the adenomatous polyposis coli (APC) gene located on chromosome 5q21–22.Case presentationA 36-year-old female was presented with 100–1000 adenomatous colonic polyps, typical of classic FAP symptoms. Genetic testing using massively parallel sequencing identified… Show more

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Cited by 6 publications
(5 citation statements)
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“…Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of numerous adenomatous polyps in the colon and rectum and is associated with a near 100% lifetime risk of colorectal cancer (CRC) ( 8 ). FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene, which is located on the long arm of chromosome 5 (5q21-22) ( 9 ). The global prevalence of FAP is ~1/10,000 in individuals, with men and women being affected equally ( 10 ).…”
Section: Introductionmentioning
confidence: 99%
“…Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of numerous adenomatous polyps in the colon and rectum and is associated with a near 100% lifetime risk of colorectal cancer (CRC) ( 8 ). FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene, which is located on the long arm of chromosome 5 (5q21-22) ( 9 ). The global prevalence of FAP is ~1/10,000 in individuals, with men and women being affected equally ( 10 ).…”
Section: Introductionmentioning
confidence: 99%
“…It is most often a familial disorder, although 20-30% of mutations arise de novo [2,3]. In the familial type, a germline mutation appears in the adenomatous polyposis coli (APC) gene located on chromosome 5q21-22 [2,4], which affects both men and women 1:1 [5]. Among FAP patients, Gardner syndrome (GS) is recognized in 10% of cases [6].…”
Section: Introductionmentioning
confidence: 99%
“…The majority of patients undergo germline mutations in the Adenomatous Polyposis Coli (APC) gene located at 5q21–q22 9 . Then, based on the two‐hit theory, there may be next acquired mutations to inactivate the second native allele and lead to loss of heterozygosity (LOH) of APC .…”
Section: Introductionmentioning
confidence: 99%