English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/116749
Título

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome

AutorPérez-Cabornero, Lucía ; Infante, Mar ; Velasco, Eladio ; Lastra, Enrique; Miner, Cristina ; Durán, Mercedes
Palabras clavePhenotype
Genotype
Lynch syndrome
Mutation
Fecha de publicación2013
EditorSpringer
CitaciónInternational Journal of Colorectal Disease 28(9): 1195-1201 (2013)
Resumen[Background]: Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by heterozygous mutations in mismatch repair (MMR) genes. Approximately 85 % of genetically defined HNPCC patients have germline mutations in MLH1 and MSH2. HNPCC patients are at increased risk of developing extracolonic cancers. The early age of onset, predominantly right-sided colon cancers, and synchronous and metachronous cancers are other features of the syndrome. HNPCC shows heterogeneous clinical phenotypes, and differences in gene mutation frequencies have been observed in some countries. Several investigators have tried to correlate the phenotype with the affected gene. [Methods]: A total of 46 individuals from 22 unrelated families, of the 264 families fulfilling the inclusion criteria, with deleterious mutations in MLH1, MSH2, or MSH6 genes were identified. We evaluated these clinicopathological features in their relation to different genetic parameters (gene mutated, type of mutation, or alteration of the MMR system in high-risk families) in order to establish a relationship between the phenotype and the genotype in our series. [Results]: The phenotype of the disease seems not to be influenced by the type of mutation, but rather by the mutated gene. The presence of multiple tumors is associated with mutations in the MSH2 gene. The mean age at diagnosis of the first colorectal cancer (CRC) was almost identical in families with mutations in MLH1 and MSH2, about 50 years of age, but this age may increase by almost 10 years for MSH6 mutation carriers. [Conclusion]: The identification of genotype–phenotype correlations could provide a more specific surveillance program focused on the individualized risk.
URIhttp://hdl.handle.net/10261/116749
DOI10.1007/s00384-013-1685-x
Identificadoresdoi: 10.1007/s00384-013-1685-x
issn: 0179-1958
e-issn: 1432-1262
Aparece en las colecciones: (IBGM) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
accesoRestringido.pdf15,38 kBAdobe PDFVista previa
Visualizar/Abrir
Mostrar el registro completo
 

Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.