Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.R378S
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BARD1

NM_000465.4:p.R378S

Associated Papers

Characterization of a Genetic Variant in BARD1 in Subjects Undergoing Germline Testing for Hereditary Tumors.

Marino E et al.

Biomedicines, 2025

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

DNA damage response mutations enhance the antitumor efficacy of ATR and PARP inhibitors in cholangiocarcinoma cell lines.

Lerksuthirat T et al.

Oncology Letters, 2025

39822940 (PubMed )
Supplement: Supplementary_Data3.xlsx › HuH-28

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Functional Analysis of BARD1 Missense Variants on Homology-Directed Repair in Ovarian and Breast Cancers.

Li W et al.

Molecular Carcinogenesis, 2025

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.

Zaitsu S et al.

International Journal of Molecular Sciences, 2024

38928057 (PubMed )
Supplement: ijms-25-06351-s001.zip › ijms-3029491-supplementary.pdf

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Discordance in Recommendation Between Next-Generation Sequencing Test Reports and Molecular Tumor Boards in India.

Mathew A et al.

Jco Global Oncology, 2024

High-throughput PRIME-editing screens identify functional DNA variants in the human genome.

Ren X et al.

Molecular Cell, 2023

High throughput PRIME editing screens identify functional DNA variants in the human genome.

Ren X et al.

Biorxiv : the Preprint Server for Biology, 2023

Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma.

Mukhana L et al.

Bulletin of Experimental Biology and Medicine, 2023

Genomic and biological aspects of resistance to selective poly(ADP-ribose) glycohydrolase inhibitor PDD00017273 in human colorectal cancer cells.

Tsuda K et al.

Cancer Reports (hoboken, N.j.), 2023

36053937 (PubMed )
Supplement: CNR2-6-e1709-s001.pdf

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Hawsawi YM et al.

Bmc Cancer, 2022

Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.

Wu J et al.

Molecular Genetics & Genomic Medicine, 2022

Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection.

Ottaiano A et al.

Therapeutic Advances in Medical Oncology, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

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