ArticleThe Journal of biological chemistry2019
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
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Article in The Journal of biological chemistry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
4.1field-weighted citation impact, top 6% of its field
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Who cites it
29 citing papers in PubMed, 47 citations in OpenAlex.
- Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications.NPJ breast cancer · 2026Review
- Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.Scientific reports · 2026Article
- HSP90 buffers deleterious genetic variations in BRCA1.Molecular cell · 2025Article
- An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.Nucleic acids research · 2025Article
- Reinterpretation of Conflicting ClinVarDiagnostics (Basel, Switzerland) · 2024Article
- Efficient suppression of premature termination codons with alanine by engineered chimeric pyrrolysine tRNAs.Nucleic acids research · 2024Article
- Prediction of Protein Secondary Structures Based on Substructural Descriptors of Molecular Fragments.International journal of molecular sciences · 2024Article
- Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.NPJ precision oncology · 2024Article
- Assessment ofJCO clinical cancer informatics · 2024Article
- Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.Cell reports · 2024Article
- Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.Breast cancer research : BCR · 2024Article
- Frequencies of Diagnostically Significant Polymorphisms of Hereditary Breast Cancer Forms in BRCA1 and BRCA2 Genes in the Kazakh Population.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.BMC cancer · 2023Article
- Olaparib-ResistantCells · 2023Article
- Functional Analyses of Rare Germline MissenseGenes · 2023Article
- Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eightFrontiers in oncology · 2023Article
- Article
- Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.Scientific reports · 2022Article
- An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.NPJ genomic medicine · 2022Article
- Functional Restoration ofFrontiers in pharmacology · 2022Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 2 countries.
Vanessa C FernandesFrom the Instituto Nacional de Câncer, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil 20231-050.
Volha A Golubevathe Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612.
Giuliano Di Pietrothe Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612; the Universidade Federal de Sergipe, Campus São Cristóvão, Brazil 49100-000.
Cara Shieldsthe Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612.
Kwabena Amankwahthe Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612.
Thales C NepomucenoFrom the Instituto Nacional de Câncer, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil 20231-050; the Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612.
Giuliana de GregoriisFrom the Instituto Nacional de Câncer, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil 20231-050.
Renata B V AbreuFrom the Instituto Nacional de Câncer, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil 20231-050.
Carly Harrothe Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612; the Department of Cell Biology, Microbiology, College of Arts and Sciences, University of South Florida Cancer Biology Ph.D. Program, Tampa, Florida 33612.
Thiago T Gomesthe Instituto Federal do Rio de Janeiro, Rio de Janeiro 20270-021, Brazil.
Ricceli F Silvathe Instituto Federal do Rio de Janeiro, Rio de Janeiro 20270-021, Brazil.
Guilherme Suarez-KurtzFrom the Instituto Nacional de Câncer, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil 20231-050.
Fergus J Couchthe Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota 55905.
Edwin S Iversenthe Department of Statistics, Duke University, Durham, North Carolina 27710.
Alvaro N A Monteirothe Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612. Electronic address: alvaro.monteiro@moffitt.org.
Marcelo A CarvalhoFrom the Instituto Nacional de Câncer, Programa de Pesquisa Clínica, Rio de Janeiro, Brazil 20231-050. Electronic address: marcelo.carvalho@ifrj.edu.br.
Instituto Nacional de Câncer - INCA · BRMoffitt Cancer Center · USInstituto Federal do Rio de Janeiro · BRDuke University · USMayo Clinic · USUniversidade Federal de Sergipe · BRUniversity of South Florida · US
Funding
TRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI KENNETH Lynn WRIGHT · 1998 to 2026
$93.5MBRCA1 and BRCA2 missense mutations and breast cancer riskU01CA116167 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2013 to 2017
$2.7MNCI NIH HHS P30 CA076292NCI NIH HHS U01 CA116167
Abstract
Genetic testing for
Indexed as
BRCA1 ProteinBreast NeoplasmsModels, MolecularMutation, MissenseOvarian NeoplasmsAmino Acid SubstitutionFemaleHEK293 CellsHumansProtein DomainsStructure-Activity RelationshipBRCA1 ProteinBRCA1 protein, humanBRCA1BRCT domainsbreast cancerbreast cancer riskcancer preventionclinical annotationclinical risk assessmenthuman geneticsprotein conformationVarCall
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Textmetadata
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.