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Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

Cells with DNA repair defects have increased genomic instability and are more likely to acquire secondary mutations that bring about cellular transformation. We describe the frequency and spectrum of somatic mutations involving several tumor suppressor genes in the rectal carcinoma of a 13-year-old...

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Detalles Bibliográficos
Autores principales: Vasovcak, P., Krepelova, A., Menigatti, M., Puchmajerova, A., Skapa, P., Augustinakova, A., Amann, G., Wernstedt, A., Jiricny, J., Marra, G., Wimmer, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387372/
https://www.ncbi.nlm.nih.gov/pubmed/22608206
http://dx.doi.org/10.1016/j.dnarep.2012.04.004