Cargando…
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis
SIMPLE SUMMARY: Colorectal cancer (CRC) in adolescents and young adults (AYA) is rare. Genetic causes include autosomal recessive and dominant monogenic disorders due to pathogenic variants (PVs) in genes involved in DNA repair. However, the genetic etiology of the majority of AYA-CRC remains uniden...
Autores principales: | Schamschula, Esther, Kinzel, Miriam, Wernstedt, Annekatrin, Oberhuber, Klaus, Gottschling, Hendrik, Schnaiter, Simon, Friedrichs, Nicolaus, Merkelbach-Bruse, Sabine, Zschocke, Johannes, Gallon, Richard, Wimmer, Katharina |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9599501/ https://www.ncbi.nlm.nih.gov/pubmed/36291559 http://dx.doi.org/10.3390/biom12101350 |
Ejemplares similares
-
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides
por: Wimmer, Katharina, et al.
Publicado: (2020) -
Genetic clues for predisposition to severe disease
por: Flemming, Alexandra
Publicado: (2021) -
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
por: Wimmer, Katharina, et al.
Publicado: (2011) -
Array genotyping as diagnostic approach in medical genetics
por: Witsch‐Baumgartner, Martina, et al.
Publicado: (2022) -
Digenic inheritance in medical genetics
por: Schäffer, Alejandro A
Publicado: (2013)