Evidence map›Paper›PMID 40966517›Full record

ArticleNucleic acids research2025

Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.

Venda Mangkusaputra, Andrea G Murachelli, Zhengzhou Yu, Annouche den Hollander, Roberta Menafra, Anne Schreuder, Susan L Kloet, Titia K Sixma, Sylvie M Noordermeer

Abstract read
In one paragraph

Article in Nucleic acids research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Venda MangkusaputraDepartment of Human Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0000-0003-4392-7271
Andrea G MurachelliOncode Institute, Jaarbeursplein 6, 3521 AL Utrecht, The Netherlands.ORCID 0000-0003-2968-8972
Zhengzhou YuDepartment of Human Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0009-0008-5125-3418
Annouche den HollanderDepartment of Human Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0009-0009-6231-8931
Roberta MenafraLeiden Genome Technology Center, LUMC, Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0000-0002-5266-0639
Anne SchreuderDepartment of Human Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0000-0002-2268-0735
Susan L KloetLeiden Genome Technology Center, LUMC, Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0000-0001-9189-0640
Titia K SixmaOncode Institute, Jaarbeursplein 6, 3521 AL Utrecht, The Netherlands.ORCID 0000-0001-6180-0632
Sylvie M NoordermeerDepartment of Human Genetics, Leiden University Medical Center (LUMC), Einthovenweg 20, 2333 ZC Leiden, The Netherlands.ORCID 0000-0003-2737-9690

Funding

Dutch Research CouncilNWO-VIDI 192.039NWO-VIDI OCENW.M.21.288Oncode
6 · The paper itself

Abstract

BRCA1 (breast cancer-associated protein 1) plays a central role in homologous recombination (HR) through interactions with multiple proteins across its various domains. The C-terminal BRCT domains bind HR regulators such as ABRAXAS1, CtIP, and BRIP1, each contributing to distinct, sometimes opposing, functions. While pathogenic mutations frequently cluster within the canonical BRCT phospho-binding pocket, the broader mutational landscape and its functional consequences remain poorly understood. Here, we used a site-saturation mutagenesis library of the BRCT domains to test >4,000 single-residue variants for their ability to bind ABRAXAS1 and CtIP. Using a yeast two-hybrid screen, we systematically assessed these interactions and validated key findings in mammalian cells. The resulting interaction map identified previously uncharacterized residues critical for partner binding and demonstrated their detrimental impact on HR. Importantly, we identified separation-of-function mutations that selectively disrupt individual protein interactions, enabling a more detailed analysis of each partner's contribution to HR. Functional assays suggested that disruption of CtIP binding had the most pronounced impact on HR. Furthermore, integration of our data with clinical variant data revealed a strong correlation between loss of protein binding and pathogenicity, highlighting the potential utility of our interaction map for clinical variant interpretation.

Indexed as

BRCA1 ProteinCarrier ProteinsDNA-Binding ProteinsEndodeoxyribonucleasesHEK293 CellsHomologous RecombinationHumansMutationNuclear ProteinsProtein BindingProtein DomainsProtein Interaction Domains and MotifsTwo-Hybrid System TechniquesUbiquitin-Protein LigasesABRAXAS1 protein, humanBRAP protein, humanBRCA1 ProteinBRCA1 protein, humanCarrier ProteinsDNA-Binding ProteinsEndodeoxyribonucleasesNuclear ProteinsRBBP8 protein, humanUbiquitin-Protein Ligases

Identifiers

PMID40966517
PMCPMC12448885

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.