Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P1749R
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BRCA1

NM_007294.4:p.P1749R

Associated Papers

Triple-Action Therapy: Combining Machine Learning, Docking, and Dynamics to Combat BRCA1-Mutated Breast Cancer.

Zainulabidin AA et al.

Molecular Biotechnology, 2025

Beyond repair: Expanding roles of BRCA1 in RNA processing and cancer.

Poorbagher MRM et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2025

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

Mangkusaputra V et al.

Nucleic Acids Research, 2025

40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_1___primer_list.xlsx › Sheet1

BRCA1-Mediated Dual Regulation of Ferroptosis Exposes a Vulnerability to GPX4 and PARP Co-Inhibition in BRCA1-Deficient Cancers.

Lei G et al.

Cancer Discovery, 2024

Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.

Apostolou P et al.

Cancers, 2024

39001430 (PubMed )
Supplement: cancers-16-02368-s001.zip › cancers-3067616-supplementary.pdf

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-3.xlsx › Table_S2

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc1.pdf

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s003.xlsx › Sheet1

Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.

Li C et al.

Theranostics, 2023

36593954 (PubMed )
Supplement: thnov13p0391s1.pdf

MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Karalidou V et al.

Biomolecules, 2022

36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Nepomuceno TC et al.

Scientific Reports, 2022

36171434 (PubMed )
Supplement: 41598_2022_20500_MOESM1_ESM.pdf

Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.

Paracchini L et al.

Cancers, 2022

35954363 (PubMed )
Supplement: cancers-14-03697-s001.zip › cancers-1796307-supplementary › Supplementary › Supplementary_Table_S4.xlsx › Sheet1

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Iversen ES et al.

Npj Genomic Medicine, 2022

35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA1_inSilico_PCs___AGVGD

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

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

Russi M et al.

Pharmacology & Therapeutics, 2022

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table3.xlsx › Sheet1

Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer.

Wan Q et al.

Familial Cancer, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

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

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp004.pdf

Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.

Lai CH et al.

Journal of Gynecologic Oncology, 2020

Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.

Sinha S et al.

Computational and Structural Biotechnology Journal, 2020

32257056 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Application of BERT to Enable Gene Classification Based on Clinical Evidence.

Su Y et al.

Biomed Research International, 2020

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-3.xlsx › Conflicting_interpretations

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

Loss of BRCA1 in the Cells of Origin of Ovarian Cancer Induces Glycolysis: A Window of Opportunity for Ovarian Cancer Chemoprevention.

Chiyoda T et al.

Cancer Prevention Research (philadelphia, Pa.), 2017

BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.

Mafficini A et al.

Oncotarget, 2016

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT et al.

Npj Genomic Medicine, 2016

28781887 (PubMed )
Supplement: npjgenmed20161-s1.pdf

Deciphering the BRCA1 Tumor Suppressor Network.

Jiang Q et al.

The Journal of Biological Chemistry, 2015

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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."