Portal de Periódicos da CAPES

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas

2004; Wiley; Volume: 24; Issue: 4 Linguagem: Inglês

10.1002/humu.9282

1098-1004

G. Isidro, Francisco Laranjeira, Ana Sofia Pires, Júllia Raissa Souza Leite, Fernando Regateiro, F. Castro e Sousa, Jos� Soares, Clara Castro, Jo�o Giria, María José Brito, Ana Medeira, Ricardo Teixeira, Henrique Morna, Isabel Gaspar, Carla Marinho, Rosa Jorge, António Brehm, José Silva Ramos, Maria Guida Boavida,

Cholangiocarcinoma and Gallbladder Cancer Studies

Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described. © 2004 Wiley-Liss, Inc.