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

Background: The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort. Methods: We used high-resolution melting, Sanger direct sequencing and multiplex ligation-dependent probe associa...

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Bibliographic Details
Published in:The International journal of biological markers 2019-03, Vol.34 (1), p.80-89
Main Authors: Araujo, Luiza Ferreira, Molfetta, Greice Andreotti, Vincenzi, Otavio Costa, Huber, Jair, Teixeira, Lorena Alves, Ferraz, Victor Evangelista, Silva, Wilson Araujo
Format: Article
Language:English
Subjects:
Adenomatous polyposis coli
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli - pathology
Adenomatous Polyposis Coli Protein - genetics
Adolescent
Adult
Aged
Biomarkers, Tumor - genetics
Brazil - epidemiology
Child
Child, Preschool
Colorectal cancer
DNA Glycosylases - genetics
Familial adenomatous polyposis
Female
Follow-Up Studies
Genes
Genetic disorders
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation
Phenotype
Polyps
Prognosis
Young Adult
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Summary:Background: The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort. Methods: We used high-resolution melting, Sanger direct sequencing and multiplex ligation-dependent probe association (MLPA) assays to identify point mutations, and large genomic variations within the coding regions of APC and MUTYH genes. Results: We identified 19 causative mutations in 40 Brazilian patients from 20 different families. Four novel mutations were identified in the APC gene and two in the MUTYH gene. We also found a high intra- and inter-familial diversity regarding extracolonic manifestations, and gastric polyps were the most common manifestation found in our cohort. Conclusion: We believe that the FAP mutational spectrum can be population-specific and screening FAP patients in different populations can improve pre-clinical diagnosis and improve clinical conduct.
ISSN:1724-6008
0393-6155
1724-6008
DOI:10.1177/1724600818814462