Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1598F
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BRCA1

NM_007294.4:p.S1598F

Associated Papers

Insights from three decades of BRCA1/2 modeling in mice.

Darnold JS et al.

Nature Genetics, 2026

BRCA1 and BRCA2: from cancer susceptibility to synthetic lethality.

Khalizieva A et al.

Genes & Development, 2025

Targeting GPX4-mediated ferroptosis protection sensitizes BRCA1-deficient cancer cells to PARP inhibitors.

Xie X et al.

Redox Biology, 2024

BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks.

Georgieva D et al.

Cell Reports, 2024

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-4.xlsx › Table_S3A

Brca1 Mouse Models: Functional Insights and Therapeutic Opportunities.

Yueh WT et al.

Journal of Molecular Biology, 2024

ATM/ATR Phosphorylation of CtIP on Its Conserved Sae2-like Domain Is Required for Genotoxin-Induced DNA Resection but Dispensable for Animal Development.

Wu-Baer F et al.

Cells, 2023

The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer.

Russi M et al.

Pharmacology & Therapeutics, 2022

Wwox Binding to the Murine Brca1-BRCT Domain Regulates Timing of Brip1 and CtIP Phospho-Protein Interactions with This Domain at DNA Double-Strand Breaks, and Repair Pathway Choice.

Park D et al.

International Journal of Molecular Sciences, 2022

Ablation of the Brca1-Palb2 Interaction Phenocopies Fanconi Anemia in Mice.

Park D et al.

Cancer Research, 2020

53BP1 loss rescues embryonic lethality but not genomic instability of BRCA1 total knockout mice.

Chen J et al.

Cell Death and Differentiation, 2020

BRCA1 Mutational Complementation Induces Synthetic Viability.

Nacson J et al.

Molecular Cell, 2020

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis

Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures.

Billon P et al.

Cell Reports, 2020

BRCA1 and homologous recombination: implications from mouse embryonic development.

Liu Y et al.

Cell & Bioscience, 2020

Molecular contribution of BRCA1 and BRCA2 to genome instability in breast cancer patients: review of radiosensitivity assays.

Sadeghi F et al.

Biological Procedures Online, 2020

The BRCT Domains of the BRCA1 and BARD1 Tumor Suppressors Differentially Regulate Homology-Directed Repair and Stalled Fork Protection.

Billing D et al.

Molecular Cell, 2018

BRCA1 through Its E3 Ligase Activity Regulates the Transcription Factor Oct1 and Carbohydrate Metabolism.

Vázquez-Arreguín K et al.

Molecular Cancer Research : Mcr, 2018

Homology-Directed Repair and the Role of BRCA1, BRCA2, and Related Proteins in Genome Integrity and Cancer.

Chen CC et al.

Annual Review of Cancer Biology, 2018

Gene-Specific Genetic Complementation between Brca1 and Cobra1 During Mouse Mammary Gland Development.

Chiang HC et al.

Scientific Reports, 2018

Genomic instability during reprogramming by nuclear transfer is DNA replication dependent.

Chia G et al.

Nature Cell Biology, 2017

And-1 coordinates with CtIP for efficient homologous recombination and DNA damage checkpoint maintenance.

Chen Y et al.

Nucleic Acids Research, 2017

Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.

Chehade R et al.

Breast Cancer Research : Bcr, 2016

BRCA1 and Oxidative Stress.

Yi YW et al.

Cancers, 2014

Co-operation of BRCA1 and POH1 relieves the barriers posed by 53BP1 and RAP80 to resection.

Kakarougkas A et al.

Nucleic Acids Research, 2013

The interaction between CtIP and BRCA1 is not essential for resection-mediated DNA repair or tumor suppression.

Reczek CR et al.

The Journal of Cell Biology, 2013

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

Domchek SM et al.

Cancer Discovery, 2013

BRCA1 and Its Network of Interacting Partners.

Christou CM et al.

Biology, 2013

BRCA1 in the DNA damage response and at telomeres.

Rosen EM

Frontiers in Genetics, 2013

Links between genome integrity and BRCA1 tumor suppression.

Li ML et al.

Trends in Biochemical Sciences, 2012

Mechanisms of BRCA1 tumor suppression.

Silver DP et al.

Cancer Discovery, 2012

BRCA1 as tumor suppressor: lord without its RING?

Elia AE et al.

Breast Cancer Research : Bcr, 2012

BRCA1 tumor suppressor network: focusing on its tail.

Wang B

Cell & Bioscience, 2012

BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity.

Shakya R et al.

Science (new York, N.y.), 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."