Cargando…
Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
In order to assess whether variations affecting DNA mismatch repair (MMR) genes are pathogenic and hence predisposing to Lynch syndrome (LS), a three-step assessment model has been proposed. Where LS is suspected based on family history, STEP1 is dedicated to the identification of the causative MMR...
Autores principales: | Kansikas, Minttu, Kariola, Reetta, Nyström, Minna |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058133/ https://www.ncbi.nlm.nih.gov/pubmed/21120944 http://dx.doi.org/10.1002/humu.21409 |
Ejemplares similares
-
PMS2 expression decrease causes severe problems in mismatch repair
por: Kasela, Mariann, et al.
Publicado: (2019) -
MutSβ exceeds MutSα in dinucleotide loop repair
por: Kantelinen, J, et al.
Publicado: (2010) -
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity
por: Kansikas, Minttu, et al.
Publicado: (2023) -
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients
por: Hu, Li, et al.
Publicado: (2022) -
Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants
por: Thompson, B, et al.
Publicado: (2012)