Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation

Genetic testing for BRCA1, a DNA repair protein, can identify carriers of pathogenic variants associated with a substantially increased risk for breast and ovarian cancers. However, an association with increased risk is unclear for a large fraction of BRCA1 variants present in the human population....

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Opis bibliograficzny
Wydane w:J Biol Chem
Główni autorzy: Fernandes, Vanessa C., Golubeva, Volha A., Di Pietro, Giuliano, Shields, Cara, Amankwah, Kwabena, Nepomuceno, Thales C., de Gregoriis, Giuliana, Abreu, Renata B. V., Harro, Carly, Gomes, Thiago T., Silva, Ricceli F., Suarez-Kurtz, Guilherme, Couch, Fergus J., Iversen, Edwin S., Monteiro, Alvaro N. A., Carvalho, Marcelo A.
Format: Artigo
Język:Inglês
Wydane: American Society for Biochemistry and Molecular Biology 2019
Hasła przedmiotowe:
Protein Structure and Folding
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6463708/
https://ncbi.nlm.nih.gov/pubmed/30765603
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.005274
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