Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.
Wang Y et al.
Military Medical Research, 2026
41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9
Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.
Huh Y et al.
Annals of Laboratory Medicine, 2026
40619576 (PubMed )
Supplement: alm-46-1-104-supple1.xlsx › TableS3
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM1_ESM.xlsx › Table_S1
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12
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
Multigene germline and somatic testing for epithelial ovarian cancer in China.
Li L et al.
Npj Precision Oncology, 2025
40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf
Towards Personalized Precision Oncology: A Feasibility Study of NGS-Based Variant Analysis of FFPE CRC Samples in a Chilean Public Health System Laboratory.
Durán-Jara E et al.
Current Issues in Molecular Biology, 2025
40864753 (PubMed )
Supplement: cimb-47-00599-s001.zip › Supplementary_Table_S4_-_VAF_and_actionability.pdf
Molecular Landscape of Metastatic Lung Adenocarcinoma in Bulgarian Patients-A Prospective Study.
Dimitrov G et al.
International Journal of Molecular Sciences, 2025
Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans.
Kim YA et al.
International Journal of Molecular Sciences, 2025
40725190 (PubMed )
Supplement: ijms-26-06941-s001.zip › Supplementary_TableS2.xlsx › Only_in_Korean
Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.
Usui Y et al.
Blood Cancer Discovery, 2025
40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1
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_S6
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3
Successful Treatment of BRAF V600E-Mutant Intrahepatic Cholangiocarcinoma With Encorafenib, Binimetinib, and Cetuximab.
Yamaguchi T et al.
Cureus, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 2025
40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.
Kim HY et al.
Annals of Laboratory Medicine, 2025
39497415 (PubMed )
Supplement: alm-45-2-160-supple.pdf
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.
Danishevich A et al.
Hereditary Cancer in Clinical Practice, 2025
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Fortuno C et al.
Human Genomics, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM9_ESM.xlsx › Fig4c
Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.
Pavlova S et al.
Hemasphere, 2025
39840379 (PubMed )
Supplement: HEM3-9-e70065-s008.xlsx › Table_S7
Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer.
Wang Y et al.
Frontiers in Oncology, 2025
Variation characteristics and clinical significance of TP53 in patients with myeloid neoplasms.
Ma Q et al.
Hematology (amsterdam, Netherlands), 2024
Clinicopathologic and Molecular Analysis of 15 Pediatric and Young Adult Patients with High-Grade Non-anaplastic Thyroid Carcinoma.
Whaley RD et al.
Endocrine Pathology, 2024
Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.
Filetti M et al.
Cancers, 2024
39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4
Impact of cytotoxic therapy on clonal hematopoiesis and myeloid neoplasms in breast cancer patients.
Kim H et al.
Medicine, 2024
39560556 (PubMed )
Supplement: medi-103-e40540-s001.xlsx › Table_S1
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.
Rocca V et al.
Current Issues in Molecular Biology, 2024
Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia.
Stiff A et al.
Nature Genetics, 2024
39367245 (PubMed )
Supplement: 41588_2024_1929_MOESM1_ESM.pdf
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants
Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.
de Haan LM et al.
Virchows Archiv : an International Journal of Pathology, 2024
37851120 (PubMed )
Supplement: 428_2023_3676_MOESM3_ESM.xlsx › Sheet1__2_
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2
TP53 mutation screening for patients at risk of myeloid malignancy.
Mukherjee D et al.
Leukemia, 2024
Influence of TP53 mutation on efficacy and survival in advanced EGFR-mutant non-small cell lung cancer patients treated with third-generation EGFR tyrosine kinase inhibitors.
Zhang Z et al.
Medcomm, 2024
38832214 (PubMed )
Supplement: MCO2-5-e586-s001.docx
RET rearrangement as a mechanism of resistance to ALK-TKI in non-small cell lung cancer patient with EML4-ALK fusion: A case report.
Yan H et al.
Heliyon, 2024
Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.
Khalil SS et al.
Cureus, 2024
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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