Associated Papers
Analytical and clinical validation of CancerMaster, an automated targeted NGS panel, for tumor-only precision oncology.
Che J et al.
Scientific Reports, 2026
Hyperthermia-induced BRCA2 reduction potentiates PARPi sensitivity in BRCA2-proficient ovarian carcinoma.
Mei B et al.
Discover Oncology, 2025
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA2
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
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.
Mazouji O et al.
Scientific Reports, 2025
40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1
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
Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.
Ku WC et al.
Clinical Proteomics, 2025
39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1
Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.
Ozcinar B et al.
International Journal of Molecular Sciences, 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
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.
Matusin SNI et al.
Plos One, 2025
40531958 (PubMed )
Supplement: pone.0312635.s005.xlsx › Sheet1
A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report.
Li Y et al.
Frontiers in Oncology, 2025
41064077 (PubMed )
Supplement: Table2.xlsx › SNVIndel
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
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Successful rapid improvement of acute respiratory distress syndrome induced by EGFR-mutated non-small cell lung cancer with almonertinib: a case report.
Sun C et al.
Bmc Pulmonary Medicine, 2024
39334060 (PubMed )
Supplement: 12890_2024_3292_MOESM1_ESM.xlsx › BRCA
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
Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.
Ustun Yilmaz S et al.
Genes, 2024
38927659 (PubMed )
Supplement: genes-15-00724-s001.zip › genes-2990258-supplementary.pdf
Preliminary insights on the mutational spectrum of BRCA1 and BRCA2 genes in Pakhtun ethnicity breast cancer patients from Khyber Pakhtunkhwa (KP), Pakistan.
Ahmad H et al.
Neoplasia (new York, N.y.), 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification
Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
Huang YT et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2024
38424547 (PubMed )
Supplement: 13046_2024_2987_MOESM2_ESM.xlsx › Table_S1
Germline RECQL gene mutations in Chinese patients with breast cancer.
Hu J et al.
Frontiers in Medicine, 2024
Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.
Lechner A et al.
Frontiers in Oncology, 2024
38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1
A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report.
Tahir M et al.
Case Reports in Oncological Medicine, 2024
Prevalence of BRCA1, BRCA2, and PALB2 genomic alterations among 924 Taiwanese breast cancer assays with tumor-only targeted sequencing: extended data analysis from the VGH-TAYLOR study.
Cheng HF et al.
Breast Cancer Research : Bcr, 2023
Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.
Youssef ASE et al.
Clinical and Experimental Medicine, 2023
The BRCA1/BARD1 complex recognizes pre-ribosomal RNA to facilitate homologous recombination.
Wu D et al.
Cell Discovery, 2023
37789001 (PubMed )
Supplement: 41421_2023_590_MOESM1_ESM.xlsx › Sheet1
The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel.
Alsolme E et al.
Diagnostics (basel, Switzerland), 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel
Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.
Hurník P et al.
Bmc Oral Health, 2023
37573343 (PubMed )
Supplement: 12903_2023_3259_MOESM1_ESM.xlsx › 202112658_AMEL_SNP_Table
Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.
Tsyganov MM et al.
Genes, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf
Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.
Biegała Ł et al.
Cells, 2023
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-s001.xlsx › Indian
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