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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Araujo, Luiza Ferreira [1, 2, 3, 4] ; Molfetta, Greice Andreotti [1, 2, 3, 5] ; Vincenzi, Otavio Costa [1, 3, 5, 6] ; Huber, Jair [6] ; Teixeira, Lorena Alves [6] ; Ferraz, Victor Evangelista [2, 5, 6] ; Silva Jr, Wilson Araujo
Total Authors: 7
[1] Reg Blood Ctr Ribeirao Preto, Ribeirao Preto - Brazil
[2] Univ Sao Paulo, Dept Genet, Ribeirao Preto Med Sch, Sao Paulo - Brazil
[3] Ctr Cell Based Therapy CEPID FAPESP, Ribeirao Preto - Brazil
[4] AC Camargo Canc Ctr, Med Genom Lab, Sao Paulo, SP - Brazil
[5] Univ Sao Paulo, Clin Hosp, Ribeirao Preto Med Sch, Ctr Med Genom, Sao Paulo - Brazil
[6] Univ Sao Paulo, Med Sch Ribeirao Preto, Clin Hosp, Med Genet Unit, Ribeirao Preto - Brazil
Total Affiliations: 6
Document type: Journal article
Source: International Journal of Biological Markers; v. 34, n. 1, p. 80-89, MAR 2019.
Web of Science Citations: 0

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. (AU)

FAPESP's process: 11/11456-0 - Molecular basis analysis of Rett Syndrome pacients treated at the Hospital das Clínicas da Faculdade de Medicina de ribeirão Preto/USP
Grantee:Otávio Costa Vincenzi
Support type: Scholarships in Brazil - Scientific Initiation
FAPESP's process: 13/25119-0 - Energetic metabolism study on melanoma progression based on mitochondrial genome instability
Grantee:Luíza Ferreira de Araújo
Support type: Scholarships in Brazil - Doctorate
FAPESP's process: 09/53853-5 - Acquisition of a high-performance platform for computational analyses applied to the field of medicine
Grantee:Wilson Araújo da Silva Junior
Support type: Multi-user Equipment Program
FAPESP's process: 13/08135-2 - CTC - Center for Cell-Based Therapy
Grantee:Dimas Tadeu Covas
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC