Cancer Genetics

Article	Citations
84. Continued utility of chromosome analysis for plasma cell disorders	451
94. Novel rare atypical e8a2 BCR::ABL1 fusion transcript detected in a patient with chronic myeloid leukemia (CML)	131
93. Enhancing cytogenetic abnormality detection through flow cytometry-guided B-Cell stimulated cultures	83
34. Best practices for testing low-level mosaic variants:Recommendations from CGC somatic overgrowth and vascular anomalies working group	61
77. Cytogenomic characterization of ALK-negative ALCL cell lines DL-40 and Fe-PD	45
24. Prediction of gene expression in NSCLC tumors and their microenvironment using an explainable machine learning model	45
26. An ATIC::ALK fusion created by balanced insertion rather than inversion of chromosome 2 in an ALK+ anaplastic large cell lymphoma	41
13. HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors	33
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures	33
27. Five-year experience of evaluating individuals at-risk for underlying genetic predisposition to hematologic malignancy	30
96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report	27
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.	26
116. Integrating methylation profiling into adult brain tumor diagnostics - the Australian experience	25
64. A rare finding of triple KRAS mutations with OmniSeq® INSIGHT in a patient with colorectal adenocarcinoma	22
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation	21
40. Prioritization of defining and supportive diagnostic variants in pediatric tumors	18
Expression and clinical significance of the imprinted gene PHLDA2 in colorectal cancer	17
2. Diagnostic next generation sequencing to detect MYD88 L265P in lymphoplasmacytic lymphoma compared to ddPCR	15
Upregulation of Uracil DNA Glycosylase (UNG) in Prostate Cancer	14
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	14
Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling	14
Context-specific roles of DDX60 in colorectal cancer via autophagy regulation and DDX58 signaling	13
Plasma cell-free DNA biomarkers as novel diagnostic and prognostic tools in breast cancer	12
Next generation sequencing reveals spatio-temporal clonal heterogeneity in an aggressive relapsed/refractory multiple myeloma case	12
Exploring the role of transcription factor TWIST1 in bladder cancer progression	12

LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway	11
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	11
70. Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia	10
The multidimensional role of laminin γ2 (LAMC2) on cancer progression	10
15. Clinical impact of in-house molecular testing for underserved cancer patients in southern Alabama	10
56. Variants of established clinical significance: Progress and challenges in the VECS SC-VCEP	10
Ewing sarcoma of the rib with a rare PTEN mutation	10
16. International working group recommendations for the implementation of optical genome mapping in Hematologic Malignancies	10
Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population	10
36. Significant copy number variants and loss of heterozygosity in Wilms Tumor: Insights from Nationwide Pediatric Oncology	10
17. Deconvolution of genetic heterogeneity in Glioblastoma using multi-region sampling	9
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	9
3. Application of optical genome mapping to identify samples with homologous recombination deficiency	9
74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies	9
8. Harnessing the power of microarray in the analysis of rarer pediatric sarcomas	9
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS	9
4. Comprehensive next generation cytogenomics improves risk stratification of acute myeloid leukemia	8
129. Standardization of cancer terminology in the Mondo Disease Ontology	8
28. Trisomy 21 silencing in hematopoietic and neural cells: New insights and prospects	8
14. Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement	8
61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma	8
102. Using cytogenomics to distinguish two types of renal cell carcinoma in a composite or collision tumor	8
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements	8
Corrigendum to “Ultra-sensitive detection of melanoma NRAS mutant ctDNA based on programmable endonucleases” [Cancer Genetics 294-295 (2025) 47–56]	7
99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden	7
Comprehensive analysis of PLKs expression and prognosis in breast cancer	7
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	7
6. Optical genome mapping as a potential Tier1 test for Postnatal Chromosomal Disorders – results of multi-institutional validation study of 331 retrospective clinical samples	7
38. Decoding the genetic complexity of B-ALL through long-read and RNA sequencing methods	7
Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer	7
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature	7
31. Rare familial rearrangement with acrocentric satellite material on Yp relocating to Xp in a female fetus	7
Corrigendum to “Study on the Anticancer Mechanism of Hydroxygenkwanin in Esophageal Cancer via the ESRRA Signaling Pathway” [Cancer Genetics, 298–299, (2025) Pages 180-192]	7
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	7
Germline APC I1307K and MITF E318K variants in a patient with high-grade serous ovarian carcinoma: A case report	6
60. AI-guided histopathology predicts brain metastasis in lung cancer patients	6
53. Uveal melanoma - The New Zealand perspective	6
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues	6
A complex t(15;22;17)(q22;q11.2;q21) variant of APL	6
18. Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia	6
71. Improved tumor profiling and diagnosis via long-read variant detection toolkit	6
Mutation status in yes-associated protein 1 (YAP1) in an insulinoma cell line Rin-5F	6
7. Overview of recurrent and novel gene fusions detected in a clinical diagnostic laboratory	6
79. Implications of fortuitous detection of JAK2 V617F mutations with solid tumor clinical sequencing	6
76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs	5
37. Epigenetic reprogramming of brain development pathways during non-small cell lung cancer metastasis to brain	5
Corrigendum to “Omics approaches: Role in acute myeloid leukemia biomarker discovery and therapy” [Cancer Genetics, 2025, Volume: 292-293, Pages: 14-26/https://doi.org/10.1016/j.cancergen.2024.12.006]	5
63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene	5
50. Updates to the CIViC knowledgebase: The fusion feature type	5
14. Four-way translocation in a patient with mild clitoromegaly	5

22. Cell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy	5
139. Feasibility of comprehensive whole genome profiling in hematological malignancies	5
Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia	5
64. Machine learning-based genomic subgrouping to refine chemo decisions in low-risk ER+/HER2- breast cancer	4
Prognosis prediction and drug guidance of ovarian serous cystadenocarcinoma through mitochondria gene-based model	4
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions	4
24. Tissue-based sequencing for laboratory diagnosis of Somatic Mosaic Disorders	4
16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype	4
2. Clinical, cytogenetic and genomic profiling of B-Other Acute Lymphoblastic Leukemia: An Indian cohort study	4
38. Formation of a tumor-specific gene list: The Central Nervous System (CNS) tumor taskforce experience	4
Clinical management of TP53 mosaic variants found on germline genetic testing	4
77. dic(7;9):A distinct entity in B-ALL with multiple genomic aberrations including IKAROS and PAX5	4
66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types	4
LncRNA SNHG29 Suppresses Epithelial Ovarian Cancer Cell Invasion and Migration via miR-20b-3p/GNAI3 Axis Regulation	4
9. Best practices for testing and reporting of FISH studies in multiple myeloma: Recommendations from the CGC working group	4
55. Evaluation of RNA quality and quantity for optimizing RNA-based NGS testing	4
120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel	4
Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia.	4
127. Characterization of alternative transcription start and termination sites in glioblastoma	3
Unraveling complex karyotype clonal architecture: co-existing double TP53 mutations alongside DNMT3A, TET2, and NF1 mutations – a case study	3
30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies	3
94. Initial efforts of the ClinGen Solid Tumor Taskforce in promoting variant curation in solid tumors into CIViC	3
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children	3
Editorial Board	3
22. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias	3
18. Trisomy 18p detected in DNA from saliva but absent in DNA from blood	3
Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway	3
77. Mining COSMIC for frameshift neoantigens as `off-the-shelf' therapeutic cancer vaccine candidates	3
Editorial Board	3
61. Familial Wilms Tumor with a novel XPO5 germline variant	3
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma	3
24. Donor-derived acute myeloid leukemia in a recipient of liver-transplantation	3
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum	3
45. Clonal hematopoiesis in childhood cancer survivors	3
Editorial Board	3
9. Clinical utility of optical genome mapping (OGM) for B-cell acute lymphoblastic leukemia (B-ALL)	3
65. Insights into the genetic heterogeneity of glioblastoma: gene amplification in ecDNA and HSR	3
7. Optical genome mapping for prenatal diagnostic testing	3
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	2
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas	2
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant	2
Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma	2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	2
7. AI-Based Algorithms for neoplastic metaphase cells boost efficiencies in the cytogenetics laboratory	2
Dysregulation of metallothionein MT1 sub-types in TCF3::PBX1 pre-B-cell acute lymphoblastic leukemia	2
93. Surveying the genomic landscape of Mantle Cell Lymphoma	2
In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers	2
Biological landscape of human papilloma virus-related head and neck cancer according to virus genotype	2
78. Next generation cytogenomics improves patient risk stratification in acute myeloid leukemia	2
15. Genomic Proximity Mapping (GPM): Evaluation of a next generation cytogenomic assay for acute myeloid leukemia	2
Mechanistic study of Liquiritigenin inhibiting bladder cancer cell proliferation and migration by regulating STING1	2
Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients	2
79. Utilization of molecular sequencing and CMA to identify a novel variant in recurrent hydrops fetalis	2
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment	2
11. Impact of long-term plasma storage on cell free dna biomarker studies	2
89. TCF3::ZNF384 in a Peruvian girl with mixed-phenotype acute leukemia and poor treatment outcome	2
28. Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies	2
74. Dilemma of selecting the optimal diagnostic test(s) for genetic biomarkers in hematologic malignancies	2
21. Translating human readable variation descriptions to unique computable variations with the Variation Normalizer	2
75. Clinical implementation of a precision medicine consultation service	2
Clonal cytogenetic abnormality in IgG4-related disease	2
Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation	2
HRD status variation in consecutive tumour biopsies in a pan-cancer cohort: a descriptive single-center study including patients from the Phase 1 Unit, Copenhagen University Hospital, Rigshospitalet	2
Corrigendum to “RNF121 Promotes the Proliferation, Migration, and Invasion of Non-Small-Cell lung cancer cell lines” [Cancer Genetics 298-299 (2025) 193-197]	2
A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists	2
41. BRAF mutations blood and bone marrow samples of langerhans cell histiocytosis patients with CNS involvement	2
41. Step 2 updates for the oncogenic assessment of FLT3 variants by the ClinGen FLT3 somatic cancer variant curation expert	2
Mutations of ARID1B, PIK3C2B, KMT2B, and FAT1 genes influence clinical outcome in newly diagnosed myeloma	2
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement	2
24. Clinical utility of optical genome mapping: comparison with standard cytogenomics work-up for hematological malignancies	2
48. Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies	2
98. A bioinformatics analysis of differentially expressed genes in non-small cell lung cancer subtypes	2
24. Methylation sequencing enhances interpretation of clonal hematopoiesis dynamics	2
9. The dual PI3K inhibitor duvelisib potently inhibits cytokine release syndrome while maintaining CAR-T function	2
Composite mantle cell lymphoma with cryptic ins(11;2)(q13;p11.2p11.2)/IGK::CCND1 and lymphoplasmacytic lymphoma with MYD88 L265P mutation	2
44. Novel ENOX2::RUNX1 fusion in a case of acute myeloid leukemia-myelodysplasia-related detected by optical genome mapping	2
66. Screening for genetic predisposition to pediatric leukemia in a Peruvian population	2
ADAR1 gene expression and its importance in breast cancer	2
Genetic modulation of ABCB1: Sunvozertinib reverses ABCB1-mediated multidrug resistance in cancer cells	2
39. Rare TBL1XR1::JAK2 fusion in a patient with pediatric T-ALL identified by optical genome mapping & long-read sequencing	2

83. Cytogenetic and molecular characterization of IDH-mutant adult-type diffuse gliomas with near-total 1p/19q co-deletions	2
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1	1
128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods	1
16. ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels	1
Villin1 predicts survival and adjuvant TACE response in hepatocellular carcinoma	1
36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis	1
30. Current next generation sequencing reporting practices: A GOAL Consortium report	1
1. Enrichment of Hodgkin and Reed-Sternberg (HRS) cells using size-based microfiltration	1
43. Fusion Curation Interface: an educational tool to explore a unified framework for representing & curating gene fusions	1
25. Improving fusion detection sensitivity in the TruSight Oncology 500 Panel through DNA-based structural variant analysis	1
38. Assessment of TRG and TRB clonality by NGS of dermatologic specimens is impacted by biopsy type, DNA and amplicon sizes	1
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes	1
Potential use of SCAT1, SCAT2, and SCAT8 as diagnostic and prognosis markers in colorectal cancer	1
DNA quality challenges in breast cancer samples from three low-middle income African countries: a straightforward protocol for research in cancer genomics	1
Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK::NUP214 fusion) or inversion 16 (CBFB::MYH11 fusion)	1
TRIM29 promotes glioblastoma progression via ubiquitinating NEFL and activating the PI3K/AKT signaling pathway	1
50. Molecular profiling of Cytolyt-Fixed FNA washes to improve diagnostic yield in lung cancer	1
The mechanism of lncRNA SSTR5-AS1 promoting ferroptosis resistance and immune escape in ovarian cancer cells by recruiting STAT3 to regulate SLC7A11 expression	1
9. Optical genome mapping workflow for identification and annotation of variants in hematological malignancy	1
Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients	1
130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41	1
12. Contextualizing clinical significance using FDA label supplemented DGI data	1
63. A female-specific chimeric RNA with differential expression in COVID patients	1
65. Creating a common language for categorical variants	1
45. Characterizing complex Non-IG gene rearrangements in high-grade B-Cell lymphoma: Insights from FISH and karyotyping	1
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar	1
Regulator of G-protein signaling 14 (RGS14) promotes cancer growth in hepatocellular carcinoma	1
107. MyVariant.info: a gateway to integrated resource of variant annotations	1
The impact of extracellular vesicles on breast cancer metastasis and therapeutics: genetic considerations	1
68. Orthogonal approaches to validate a knowledgebase of interpretations of clinically relevant somatic cancer variants	1
85. Microfilter enrichment of Hodgkin and Reed-Sternberg (HRS) cells	1
23. Prediction of BRAF V600 mutation status in cutaneous melanoma using an explainable deep learning model	1
57. Not just iron deficiency: Occult GI bleeding as the first clue to indolent mantle cell lymphoma	1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	1
Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma	1
7. Application of expert panel-derived oncogenicity guidelines in BCR::ABL1-like B-lymphoblastic leukemia/lymphoma	1
Persistent monosomy 7 in Philadelphia chromosome-negative cells without disease progression over nearly two decades of follow-up in chronic myeloid leukemia	1
82. Can mitochondrial DNA mutations be used as a biomarker for endometrial cancer?	1
16. Comparative analysis of targeted RNA-Seq and optical genome mapping for detecting clinically significant gene rearrangements	1
92. The good, the bad, and the mysterious: Complexity in identifying the cause of a holoprosencephaly case	1
Prelims	1
The effect of HOTAIR gene variants on the development of bladder cancer and its clinicopathological characteristics in a Caucasian population	1
11. Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants	1
Myeloid neoplasms with mutated KIT: Comparative clinicopathologic analysis of D816 vs. non-D816 variants	1
83. Quantum lattices for early cancer detection through machine learning	1
138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies	1
67. Biomarker discovery and gene therapy approaches for triple negative breast cancer risk in African American women	1
High YEATS4 expression characterizes MDM2-amplified liposarcoma	1
81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes	1
Acute cardiac dysfunction in patients with ovarian cancer treated with Niraparib due to TFAM mutation: A case series and functional analysis	1
WDR54 enhances NF-κB signaling to promote progression of hepatocellular carcinoma	1
90. TERT promoter mutation detection by ddPCR in glial atypia	1
94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma	1
5. Implementation of Automatic Slide Processing for Aneuploidy FISH Test	1
The role of miR-10b-5p in prostate cancer and its exosome-mediated angiogenesis effect	1
1. Rare oncogenic structural variations in FGFR genes in childhood brain tumors provide potential therapeutic targets	1
2. Chromothripsis in meningiomas is associated with more aggressive behavior	1
46. Integrative cytogenetic and molecular studies unmasks `chromosomal mimicry' in hematologic malignancies	1
103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas	1
55. Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers	1
56. Clonal 6p loss of heterozygosity in hematolymphoid neoplasms as the sole finding at diagnosis	1
Ellagic acid inhibits EZH2: a potential epigenetic therapeutic molecule for cancer	1
Influence of IL-38 as a novel biomarker on the pathophysiological processes of esophageal cancer	1
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer	1
8. Optical genome mapping analysis of FMR1 expansions in fragile X syndrome	1
4. Current applications of cell-free DNA in pregnancy and oncology	1
20. Comparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors	1
100. Ultrasensitive molecular residue disease detection enabled by genome wide concatemer error correction	1
62. Characterization of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with KMT2A amplification	1
91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia	1
53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important	1
10. Optical genome mapping on pediatric leukemia samples: A single hospital experience	1
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma	1