Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.
Int J Biol Markers
; 34(1): 80-89, 2019 Mar.
Article
en En
| MEDLINE
| ID: mdl-30852976
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Biomarcadores de Tumor
/
Poliposis Adenomatosa del Colon
/
Predisposición Genética a la Enfermedad
/
Proteína de la Poliposis Adenomatosa del Colon
/
ADN Glicosilasas
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Int J Biol Markers
Asunto de la revista:
BIOQUIMICA
/
NEOPLASIAS
Año:
2019
Tipo del documento:
Article
País de afiliación:
Brasil