Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.V507M
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BARD1

NM_000465.4:p.V507M

Associated Papers

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

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

Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.

Li D et al.

Npj Precision Oncology, 2025

40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_

BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient.

Castaldi MA et al.

Gynecologic Oncology Reports, 2025

DNA damage and repair (DDR) gene mutation profiles in driver gene wild-type advanced non-small cell lung cancer and the predictive role of response to platinum-based chemotherapy.

Wu T et al.

Translational Lung Cancer Research, 2025

Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.

Wang TY et al.

Molecular Cytogenetics, 2025

40069757 (PubMed )
Supplement: 13039_2025_708_MOESM1_ESM.pdf

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

Primary mucinous cystadenocarcinoma of the breast: A case report and literature review.

Cao X et al.

Oncology Letters, 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

Structural dynamics of clinically-reported VUS in the BARD1 ARD-BRCT region to predict the molecular basis of alterations.

Barua SA et al.

Journal of Biomolecular Structure & Dynamics, 2024

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

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s002.xlsx › Supp_Table_5

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.

Martija AA et al.

Acta Neuropathologica Communications, 2023

37936247 (PubMed )
Supplement: 40478_2023_1673_MOESM5_ESM.xlsx › 345000

BRAF p.V600E mutation as a molecular boundary between genuine oligo-repeated and poly-metastatic disease in colorectal cancer.

Ottaiano A et al.

Neoplasia (new York, N.y.), 2023

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

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

Enrichment of "Cribriform" morphologies (intraductal and cribriform adenocarcinoma) and genomic alterations in radiorecurrent prostate cancer.

Shah RB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.

Bonner ER et al.

Npj Precision Oncology, 2022

36068285 (PubMed )
Supplement: 41698_2022_306_MOESM3_ESM.xlsx › 3.846CSF_Complete_Output

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST2_Germline_Variants

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM10_ESM.xlsx › Supplementary_Table_S5

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

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Hawsawi YM et al.

Bmc Cancer, 2022

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1

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

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Kim J et al.

Frontiers in Oncology, 2022

35774130 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet2

Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes.

Reitsam NG et al.

Frontiers in Oncology, 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
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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."