Luiza Ferreira Araujo1,2,3, Greice Andreotti Molfetta1,4,2, Otavio Costa Vincenzi4,2,5, Jair Huber5, Lorena Alves Teixeira5, Victor Evangelista Ferraz1,4,5, Wilson Araujo Silva1,4,2,5. 1. 1 Departament of Genetics, Ribeirão Preto Medical School, University of São Paulo, Brazil. 2. 3 Center for Cell-Based Therapy CEPID/FAPESP, and Regional Blood Center of Ribeirão Preto, Brazil. 3. 5 Medical Genomics Laboratory, AC Camargo Cancer Center, Brazil. 4. 2 Center for Medical Genomics at Clinical Hospital of the Ribeirão Preto Medical School, University of São Paulo, Brazil. 5. 4 Medical Genetics Unit, Clinical Hospital of the Medical School of Ribeirão Preto, University of São Paulo, Brazil.
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.
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.
Entities:
Keywords:
APC; Familial adenomatous polyposis; HRM technique; MUTYH; admixed population