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Human mutation mutation in brief #753 (2004) online mutation in brief germline mutyh (myh) mutations in portuguese individuals with multiple colorectal adenomas.
| Content Provider | CiteSeerX |
|---|---|
| Author | Isidro, Glória Laranjeira, Francisco Pires, Ana Leite, Júlio Regateiro, O. F. Castro, E. Soares, José Castro, Clara Giria, João Brito, Maria J. Medeira, Ana Morna, Henrique Gaspar, Isabel Marinho, Carla Jorge, Rosa Brehm, António Ramos, Silva Boavida, Maria Guida |
| Abstract | Communicated by Albert de la Chapelle 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. KEY WORDS: APC; MYH; MUTYH; colorectal adenoma; FAP; polyposis; Portuguese |
| File Format | |
| Access Restriction | Open |
| Subject Keyword | Multiple Colorectal Adenoma Portuguese Individual Human Mutation Mutation Online Mutation Brief Germline Mutyh Colorectal Adenoma Germinal Mutation Myh Polyposis Apc Gene Classic Dominant Condition Gene Mutyh Genetic Counseling Albert De Therapeutic Option Base Excision Repair Classic Adenomatous Polyposis Autosomal Recessive Disease Familial Adenomatous Polyposis Biallelic Germline Myh Mutation Chapelle Germinal Mutation Important Implication Myh Gene |
| Content Type | Text |
