Cargando…
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome
BACKGROUND: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) associated cancer, where a causative variant was not identified during genetic testing for LS....
Autores principales: | Xavier, Alexandre, Olsen, Maren Fridtjofsen, Lavik, Liss A., Johansen, Jostein, Singh, Ashish Kumar, Sjursen, Wenche, Scott, Rodney J., Talseth‐Palmer, Bente A. |
---|---|
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/PMC6687620/ https://www.ncbi.nlm.nih.gov/pubmed/31297992 http://dx.doi.org/10.1002/mgg3.850 |
Ejemplares similares
-
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer
por: Singh, Ashish Kumar, et al.
Publicado: (2020) -
Detecting copy number variation in next generation sequencing data from diagnostic gene panels
por: Singh, Ashish Kumar, et al.
Publicado: (2021) -
Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
por: Talseth‐Palmer, Bente A., et al.
Publicado: (2016) -
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations
por: Sjursen, Wenche, et al.
Publicado: (2016) -
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
por: Singh, Ashish Kumar, et al.
Publicado: (2023)