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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Bibliografski detalji
Izdano u:J Biol Chem
Glavni autori: 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
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2019
Teme:
Protein Structure and Folding
Online pristup: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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