Cargando…
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...
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 |
Ejemplares similares
-
Mutations in STK11 gene in Czech Peutz-Jeghers patients
por: Vasovčák, Peter, et al.
Publicado: (2009) -
Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL
por: Wernstedt, Annekatrin, et al.
Publicado: (2012) -
Molecular Genetic Analysis of 103 Sporadic Colorectal Tumours in Czech Patients
por: Vasovcak, Peter, et al.
Publicado: (2011) -
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
por: Ramchander, N. C., et al.
Publicado: (2017) -
Epigenetic silencing of monoallelically methylated miRNA loci in precancerous colorectal lesions
por: Menigatti, M, et al.
Publicado: (2013)