Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome

Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in MLH1 and MSH2. By direct sequencing, we identified 27 MSH6 variants, of which,...

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Detalles Bibliográficos
Autores principales: Liccardo, Raffaella, De Rosa, Marina, Rossi, Giovanni Battista, Carlomagno, Nicola, Izzo, Paola, Duraturo, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454912/
https://www.ncbi.nlm.nih.gov/pubmed/28481244
http://dx.doi.org/10.3390/ijms18050999

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454912/
https://www.ncbi.nlm.nih.gov/pubmed/28481244
http://dx.doi.org/10.3390/ijms18050999

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