Cargando…
PMS2 expression decrease causes severe problems in mismatch repair
PMS2 is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small number of LS families segregate a PMS2 mutati...
Autores principales: | Kasela, Mariann, Nyström, Minna, Kansikas, Minttu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6618857/ https://www.ncbi.nlm.nih.gov/pubmed/30946512 http://dx.doi.org/10.1002/humu.23756 |
Ejemplares similares
-
Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
por: Kansikas, Minttu, et al.
Publicado: (2011) -
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) -
PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor
por: Wang, Wen-Chung, et al.
Publicado: (2017) -
Role for Mismatch Repair Proteins Msh2, Mlh1, and Pms2 in Immunoglobulin Class Switching Shown by Sequence Analysis of Recombination Junctions
por: Schrader, Carol E., et al.
Publicado: (2002) -
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)