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....

詳細記述

保存先:
書誌詳細
出版年:J Biol Chem
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2019
主題:
Protein Structure and Folding
オンライン･アクセス: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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