Cargando…
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair
BRCA1 and BRCA2 are the genes most frequently associated with hereditary breast and ovarian cancer (HBOC). They are crucial for the maintenance of genome stability, particularly in the homologous recombination-mediated repair pathway of DNA double-strand breaks (HR-DSBR). Widespread BRCA1/2 next-gen...
Autores principales: | Esposito, Maria Valeria, Minopoli, Giuseppina, Esposito, Luciana, D’Argenio, Valeria, Di Maggio, Federica, Sasso, Emanuele, D’Aiuto, Massimiliano, Zambrano, Nicola, Salvatore, Francesco |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826418/ https://www.ncbi.nlm.nih.gov/pubmed/31569370 http://dx.doi.org/10.3390/cancers11101454 |
Ejemplares similares
-
A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA
por: Esposito, Maria Valeria, et al.
Publicado: (2016) -
Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women
por: Esposito, Maria Valeria, et al.
Publicado: (2022) -
Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy
por: Nunziato, Marcella, et al.
Publicado: (2022) -
Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk
por: Limongelli, Giuseppe, et al.
Publicado: (2020) -
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer
por: Flower, Kirsty J, et al.
Publicado: (2016)