Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

Giang, Hoa; Nguyen, Vu Trieu; Nguyen, Sinh D; Nguyen, Huu Phuc; Vo, Binh Thanh; Nguyen, Truc M; Nguyen, Nguyen Hong; Truong, Kiet Dinh; Thanh-Thuy, T; Phan, Minh-Duy; Nguyen, Hoai-Nghia

doi:10.1186/s12881-018-0701-y

Cited by 6 publications

(5 citation statements)

References 19 publications

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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%

Adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis: a rare case report

Wang,

Fan,

Peng

et al. 2024

Front. Oncol.

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Pancreatoblastoma (PB) is a rare malignant pancreatic epithelial tumor that mostly occurs in children and occasionally occurs in adults. The tumor has acinar cell differentiation and squamous corpuscles/squamous epithelial islands, which are frequently separated by fibrous bundles. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of numerous adenomatous polyps in the colon and rectum. Cases of pancreatoblastoma combined with familial adenomatous polyposis (FAP) are rarely reported. A review of a rare case of adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis is presented herein. In this case, the patient was first diagnosed with familial adenomatous polyposis and subsequently found to have pancreatoblastoma 1 year and 3 months later. This suggests pancreatoblastoma may occur in patients with familial adenomatous polyposis or a family history of the condition, indicating a possible association between the two tumors. Therefore, pancreatoblastoma should be included in a differential diagnosis for FAP patients with a pancreatic mass. The final diagnosis of pancreatoblastoma depends on the pathological diagnosis. Acinar-like cells and squamous corpuscles/squamous epithelial cell islands under light microscopy are the key diagnostic points. This case report also can improve the awareness of clinicians, radiologists, and pathologists on the presence of rare tumor-adult pancreatoblastoma in patients with familial adenomatous polyposis.

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Section: Introductionmentioning

confidence: 99%

Adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis: a rare case report

Wang,

Fan,

Peng

et al. 2024

Front. Oncol.

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“…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%

Gardner syndrome with desmoid tumors – case report

Rycyk,

Knop-Chodyła,

Kasztelan-Szczerbińska

et al. 2024

J Pre Clin Clin Res.

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Introduction. Gardner syndrome (GS) is characterized as a type of familial adenomatous polyposis (FAP), an autosomal dominant inherited disease which, if left untreated, with 100% risk leads to the development of colorectal cancer. Case Report. The case is presented a of a 40-year-old man who was diagnosed with Gardner syndrome at the age of 12. During his hospitalization, the patient underwent gastroscopy, colonoscopy, and computed tomography (CT) scans of head, neck and abdomen. The examination revealed the presence of extra-intestinal manifestations of GS: desmoid tumours, osteomas, and dental cavities. At present, the patient is scheduled for enteroscopy. Conclusions. GS is a diagnosis of genetic testing, although clinicians should be aware of the fact that up to 30% of GS cases are detected as de novo mutations. The physical examination should always be performed with accuracy to avoid a too late diagnosis of FAP, including GS, which may result in death.

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“…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%

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)

Ghadamyari

Heidari

Zeinali

et al. 2021

Clinical Laboratory Analysis

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Background Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal‐dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis. Methods The genetic screening of 59 FAP Iranian patients in 10 families was performed by polymerase chain reactions and the direct sequencing of the entire coding exons of the APC gene. To do linkage haplotype analysis and multiplex PCR‐based microsatellite examination, six short tandem repeat loci were selected in this gene. To evaluate and predict the potentially deleterious effects, comprehensive bioinformatics pathogenicity assays were used. Results A total of 12 germline heterozygous and homozygous nucleotide variations were identified. They included two missense mutations, four nonsense mutations, which would lead to the truncated and nonfunctional protein products, four synonymous or silent variations, and two nucleotide deletions of 1 to 5 bp or frameshift mutations. In addition, three novel heterozygous nonsense mutations were found in exons 10, 14, and 15 of the gene. There was also p.Arg653Met as a novel heterozygote mutation in exon 14 of the gene. Conclusions Bioinformatics analysis and three‐dimensional structural modeling predicted that these missense and nonsense mutations generally are associated with the deleted or truncated domains of APC and have functional importance and mainly affected the APC protein. These findings may provide evidence for the progress of potential biomarkers and help to understand the role of the APC gene in FAP.

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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

Cited by 6 publications

References 19 publications

Adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis: a rare case report

Adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis: a rare case report

Gardner syndrome with desmoid tumors – case report

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)

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