Cargando…
Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome
Germline variations in the DNA polymerase genes, POLE and POLD1, can lead to a hereditary cancer syndrome that is characterized by frequent gastrointestinal polyposis and multiple primary malignant tumors. However, because of its rare occurrence, this disorder has not been extensively studied. In th...
Autores principales: | Zhang, Ying, Wang, Xiaolu, Zhu, Yuning, Liang, Chong, Zhao, Lijun, Meng, Qi, Yin, Jiani C., Shi, Yuqian, Wang, Fufeng, Qin, Feng, Xuan, Ji |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516538/ https://www.ncbi.nlm.nih.gov/pubmed/37746257 http://dx.doi.org/10.3389/fonc.2023.1222873 |
Ejemplares similares
-
Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome
por: Bonjoch, Laia, et al.
Publicado: (2023) -
Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1
por: Mur, Pilar, et al.
Publicado: (2023) -
Germline variant testing in serrated polyposis syndrome
por: Murphy, Aisling, et al.
Publicado: (2022) -
Risk of colorectal cancer for carriers of a germline mutation in POLE or POLD1
por: Buchanan, Daniel D., et al.
Publicado: (2017) -
Roles of human POLD1 and POLD3 in genome stability
por: Tumini, Emanuela, et al.
Publicado: (2016)