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Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA. Fernandes VC, et al. Among authors: nepomuceno tc. J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14. J Biol Chem. 2019. PMID: 30765603 Free PMC article.
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Lyra PCM Jr, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS Jr, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA. Lyra PCM Jr, et al. Among authors: nepomuceno tc. Genet Med. 2021 Feb;23(2):306-315. doi: 10.1038/s41436-020-00991-0. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087888 Free PMC article.
PALB2 Variants: Protein Domains and Cancer Susceptibility.
Nepomuceno TC, Carvalho MA, Rodrigue A, Simard J, Masson JY, Monteiro ANA. Nepomuceno TC, et al. Trends Cancer. 2021 Mar;7(3):188-197. doi: 10.1016/j.trecan.2020.10.002. Epub 2020 Nov 1. Trends Cancer. 2021. PMID: 33139182 Review.
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. HGG Adv. 2023 Oct 12;4(4):100240. doi: 10.1016/j.xhgg.2023.100240. Epub 2023 Sep 16. HGG Adv. 2023. PMID: 37718511 Free PMC article.
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