MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome) - Description of four novel mutations

This study searched for mutations in the MLH1 and MSH2 genes in 23 unrelated Colombian families with suspected hereditary nonpolyposis colorectal cancer (HNPCC). The families were grouped according to the fulfillment of the Amsterdam II criteria or the Bethesda guidelines. We screened all probands b...

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Autores:
Tipo de recurso:
Fecha de publicación:
2005
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/24054
Acceso en línea:
https://doi.org/10.1007/s10689-005-4523-7
https://repository.urosario.edu.co/handle/10336/24054
Palabra clave:
Protein MLH1
Protein MSH2
Amino acid substitution
Article
Cancer screening
Codon
Colombia
Colorectal cancer
Controlled study
DNA sequence
Exon
Familial cancer
Gene deletion
Gene mutation
Genetic screening
Genetic variability
Human
Priority journal
Single strand conformation polymorphism
Base Sequence
Carrier Proteins
Colombia
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Male
Neoplasm Proteins
Nuclear Proteins
Polymerase Chain Reaction
Colombian families
Familial cancer
HNPCC
Lynch syndrome
MLH1
MSH2
Single-Stranded Conformational
Hereditary Nonpolyposis
Neoplasm
Colorectal Neoplasms
DNA
Polymorphism
Rights
License
Abierto (Texto Completo)