Cargando…
Influence of family history on penetrance of hereditary cancers in a population setting
BACKGROUND: We sought to investigate how penetrance of familial cancer syndromes varies with family history using a population-based cohort. METHODS: We analysed 454,712 UK Biobank participants with exome sequence and clinical data (data collected between March 2006 and June 2021). We identified par...
Autores principales: | Jackson, Leigh, Weedon, Michael N., Green, Harry D., Mallabar-Rimmer, Bethan, Harrison, Jamie W., Wood, Andy R., Ruth, Kate S., Tyrrell, Jess, Wright, Caroline F. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10626157/ https://www.ncbi.nlm.nih.gov/pubmed/37936660 http://dx.doi.org/10.1016/j.eclinm.2023.102159 |
Ejemplares similares
-
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
por: Wright, Caroline F., et al.
Publicado: (2019) -
Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation
por: MN, Weedon, et al.
Publicado: (2021) -
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
por: Mackey, David A., et al.
Publicado: (2023) -
Mosaic Turner syndrome shows reduced penetrance in an adult population study
por: Tuke, Marcus A., et al.
Publicado: (2018) -
Candidate Modifier Genes for the Penetrance of Leber’s Hereditary Optic Neuropathy
por: Cheng, Hui-Chen, et al.
Publicado: (2022)