Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations

Araújo, Luíza Ferreira de; Molfetta, Greice Andreotti de; Vincenzi, Otavio Costa; Huber, Jair; Teixeira, Lorena Alves; Ferraz, Victor Evangelista de Faria; Silva, Wilson A.

doi:10.1177/1724600818814462

Cited by 7 publications

(3 citation statements)

References 48 publications

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“…Phenotypic differences in FAP patients are not only influenced by the site of the APC genetic variant but also vary within a family. Araujo et al reported high intra‐familial diversity of extracolonic manifestations 41 . Meanwhile, in the current study, we investigated whether patients with a severe phenotype had family members with the same phenotype.…”

Section: Discussionmentioning

confidence: 85%

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Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Shimamoto,

Takeuchi,

Ishiguro

et al. 2023

Cancer Science

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Familial adenomatous polyposis (FAP) patients develop various life‐threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype–phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants. Of 247 FAP patients, 126 patients from 85 families identified to have APC germline variant sites were extracted. These sites were divided into six groups (Regions A to F), and the frequency of severe comorbidities was compared among the patient phenotypes. Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with high‐grade dysplasia, and Spigelman stage ≥III were 3%, 16%, 21%, 12%, and 41%, respectively, while the corresponding rates were 30%, 50%, 70%, 50%, and 80% in patients with Region E (codons 1398–1580) variants. These latter rates were significantly higher than those for patients with variants in other regions. Moreover, the proportion of patients with all three indicators (desmoid tumor stage ≥III, number of FGPs ≥1000, and Spigelman stage ≥III) was 20% for those with variants in Region E and 0% for those with variants in other regions. Variants in Region E indicate aggressive phenotypes, and more intensive management is required.

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Section: Discussionmentioning

confidence: 85%

“…Araujo et al reported high intra‐familial diversity of extracolonic manifestations. 41 Meanwhile, in the current study, we investigated whether patients with a severe phenotype had family members with the same phenotype. The results showed high familial accumulation of an abundance of FGPs and duodenal lesions.…”

Section: Discussionmentioning

confidence: 99%

Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Shimamoto,

Takeuchi,

Ishiguro

et al. 2023

Cancer Science

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“…The clinical phenotype of MUTYH -associated polyposis (MAP) is similar to AFAP. MAP has an autosomal recessive type of inheritance [8]. In this article, only FAP cases with allelic variants of the APC gene will be considered.…”

Section: Introductionmentioning

confidence: 99%

Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients

et al. 2019

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Background and objectives: Familial adenomatous polyposis is one of the APC-associated polyposis conditions described as genetically predetermined colorectal polyposis syndrome with a variety of symptoms. The purpose of this study was to determine sequence variants of the APC gene in patients with familial adenomatous polyposis (FAP) phenotype and positive or negative family history. Materials and Methods: Eight families with defined criteria of adenomatous polyposis underwent molecular genetic testing. Coding regions and flanking intron regions of the APC gene were analyzed by Sanger sequencing. Results: Eight allelic variants of the APC gene coding sequence were detected. All allelic variants of the APC gene were predicted to be pathogenic based on criteria according to the “Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology” (2015), four of them c.1586_1587insAT, c.2336delT, c.3066_3067insGA, and c.4303_4304insC, were considered novel. Conclusions: The timely molecular genetic analysis of APC germline variants and standardized interpretation of the pathogenicity of novel allelic variants has a high impact on choice for treatment, cancer prevention, and family genetic counseling.

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Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study

et al. 2020

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Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations

Cited by 7 publications

References 48 publications

Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients

Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study

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