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

Author(s)

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

Affiliation

^[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

• Document type: Journal article
• Source: International Journal of Biological Markers; v. 34, n. 1, p. 80-89, MAR 2019.
• Web of Science Citations: 1

Abstract

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: 13/08135-2 - CTC - Center for Cell-Based Therapy
• Grantee: Dimas Tadeu Covas
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• 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 Opportunities: Multi-user Equipment Program
• 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 Opportunities: 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 Opportunities: Scholarships in Brazil - Doctorate