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

Autor(es)

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

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: International Journal of Biological Markers; v. 34, n. 1, p. 80-89, MAR 2019.
• Citações Web of Science: 1

Resumo

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)

• Processo FAPESP: 13/08135-2 - CTC - Centro de Terapia Celular
• Beneficiário: Dimas Tadeu Covas
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
• Processo FAPESP: 09/53853-5 - Aquisição de uma plataforma de alta performance para análises computacionais aplicadas à medicina
• Beneficiário: Wilson Araújo da Silva Junior
• Modalidade de apoio: Auxílio à Pesquisa - Programa Equipamentos Multiusuários
• Processo FAPESP: 11/11456-0 - Análise de mutações no gene APC de pacientes clinicamente diagnosticados com Polipose Adenomatosa Familiar (FAP)
• Beneficiário: Otávio Costa Vincenzi
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica
• Processo FAPESP: 13/25119-0 - Estudo do metabolismo energético na progressão do melanoma com base na instabilidade do genoma mitocondrial
• Beneficiário: Luíza Ferreira de Araújo
• Modalidade de apoio: Bolsas no Brasil - Doutorado