作者: Caroline Aquino Moreira-Nunes , Mariceli Baia Leão Barros , Bárbara do Nascimento Borges , Raquel Carvalho Montenegro , Leticia Martins Lamarão
关键词: Pathology 、 Medicine 、 CDH1 、 Germline mutation 、 Gastrointestinal tumors 、 Human genetics 、 Genetics 、 Hereditary diffuse gastric cancer 、 Screening analysis 、 Gene 、 Comparative genomic hybridization
摘要: Background Hereditary diffuse gastric cancer (HDGC) is a hereditary autosomal inherited syndrome associated with CDH1 germline mutations. In Brazil, gastrointestinal tumors are among the most prevalent tumor types and constitute serious public health problem, especially in northern northeastern regions. This study aimed to investigate mutations, methylation pattern genomic rearrangements gene quantitative changes DNA of HDGC patients Brazil.