Cancer Genetics

Article	Citations
17. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions	375
26. An ATIC::ALK fusion created by balanced insertion rather than inversion of chromosome 2 in an ALK+ anaplastic large cell lymphoma	113
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures	73
13. HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors	55
27. Five-year experience of evaluating individuals at-risk for underlying genetic predisposition to hematologic malignancy	42
49. Clinical validation of Infinium CytoSNP-850K SNP-Array for routine copy number profiling of hematological malignancies	41
96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report	38
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.	32
116. Integrating methylation profiling into adult brain tumor diagnostics - the Australian experience	30
64. A rare finding of triple KRAS mutations with OmniSeq® INSIGHT in a patient with colorectal adenocarcinoma	25
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation	22
40. Prioritization of defining and supportive diagnostic variants in pediatric tumors	21
Exploring the role of transcription factor TWIST1 in bladder cancer progression	20
2. Diagnostic next generation sequencing to detect MYD88 L265P in lymphoplasmacytic lymphoma compared to ddPCR	19
Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling	19
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	18
Upregulation of Uracil DNA Glycosylase (UNG) in Prostate Cancer	18
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	16
Expression and clinical significance of the imprinted gene PHLDA2 in colorectal cancer	16
Plasma Cell-Free DNA Biomarkers as Novel Diagnostic and Prognostic Tools in Breast Cancer	14
36. Significant copy number variants and loss of heterozygosity in Wilms Tumor: Insights from Nationwide Pediatric Oncology	13
15. Clinical impact of in-house molecular testing for underserved cancer patients in southern Alabama	13
LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway	13
Corrigendum to “Ultra-sensitive detection of melanoma NRAS mutant ctDNA based on programmable endonucleases” [Cancer Genetics 294-295 (2025) 47–56]	11
Ewing sarcoma of the rib with a rare PTEN mutation	11

70. Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia	11
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	11
56. Variants of established clinical significance: Progress and challenges in the VECS SC-VCEP	11
Mutation status in yes-associated protein 1 (YAP1) in an insulinoma cell line Rin-5F	10
8. Harnessing the power of microarray in the analysis of rarer pediatric sarcomas	10
16. International working group recommendations for the implementation of optical genome mapping in Hematologic Malignancies	10
17. Deconvolution of genetic heterogeneity in Glioblastoma using multi-region sampling	9
74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies	9
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS	9
3. Application of optical genome mapping to identify samples with homologous recombination deficiency	9
102. Using cytogenomics to distinguish two types of renal cell carcinoma in a composite or collision tumor	9
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	9
129. Standardization of cancer terminology in the Mondo Disease Ontology	9
61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma	8
6. Optical genome mapping as a potential Tier1 test for Postnatal Chromosomal Disorders – results of multi-institutional validation study of 331 retrospective clinical samples	8
28. Trisomy 21 silencing in hematopoietic and neural cells: New insights and prospects	8
4. Comprehensive next generation cytogenomics improves risk stratification of acute myeloid leukemia	8
99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden	8
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer	8
14. Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement	8
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements	8
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
Comprehensive analysis of PLKs expression and prognosis in breast cancer	7
Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer	7
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues	7
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature	7
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	7
The multidimensional role of laminin γ2 (LAMC2) on cancer progression	7
Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population	7
79. Implications of fortuitous detection of JAK2 V617F mutations with solid tumor clinical sequencing	6
37. Epigenetic reprogramming of brain development pathways during non-small cell lung cancer metastasis to brain	6
A complex t(15;22;17)(q22;q11.2;q21) variant of APL	6
7. Overview of recurrent and novel gene fusions detected in a clinical diagnostic laboratory	6
22. Cell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy	6
60. AI-guided histopathology predicts brain metastasis in lung cancer patients	6
53. Uveal melanoma - The New Zealand perspective	6
18. Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia	6
50. Chromosomal microarray uncovers novel mechanisms of progression in myelodysplastic syndromes with normal karyotype	5
Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature	5
38. Formation of a tumor-specific gene list: The Central Nervous System (CNS) tumor taskforce experience	5
32. Clinical utility and feasibility of adopting optical genome mapping for chromosomal characterization of solid tumors	5
63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene	5
44. Clinical utility of pharmacogenomics testing with an expanded panel	5
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome	5
9. Best practices for testing and reporting of FISH studies in multiple myeloma: Recommendations from the CGC working group	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
14. Four-way translocation in a patient with mild clitoromegaly	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

76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs	5
Prognosis prediction and drug guidance of ovarian serous cystadenocarcinoma through mitochondria gene-based model	4
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children	4
Clinical management of TP53 mosaic variants found on germline genetic testing	4
16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype	4
Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia.	4
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression	4
2. Clinical, cytogenetic and genomic profiling of B-Other Acute Lymphoblastic Leukemia: An Indian cohort study	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
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma	4
24. Tissue-based sequencing for laboratory diagnosis of Somatic Mosaic Disorders	4
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions	4
77. dic(7;9):A distinct entity in B-ALL with multiple genomic aberrations including IKAROS and PAX5	4
26. Co-occurrence of rosette-forming glioneuronal tumors with Noonan Syndrome	4
120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel	4
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients	4
78. Next generation cytogenomics improves patient risk stratification in acute myeloid leukemia	3
45. Clonal hematopoiesis in childhood cancer survivors	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
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum	3
77. Mining COSMIC for frameshift neoantigens as `off-the-shelf' therapeutic cancer vaccine candidates	3
30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies	3
Genetic modulation of ABCB1: Sunvozertinib reverses ABCB1-mediated multidrug resistance in cancer cells	3
A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists	3
Unraveling complex karyotype clonal architecture: co-existing double TP53 mutations alongside DNMT3A, TET2, and NF1 mutations – a case study	3
94. Initial efforts of the ClinGen Solid Tumor Taskforce in promoting variant curation in solid tumors into CIViC	3
4. Glioblastomas with MAPK pathway alterations show low grade histologic features and present novel therapeutic targets	3
18. Trisomy 18p detected in DNA from saliva but absent in DNA from blood	3
Editorial Board	3
22. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias	3
Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway	3
Corrigendum to “RNF121 Promotes the Proliferation, Migration, and Invasion of Non-Small-Cell lung cancer cell lines” [Cancer Genetics 298-299 (2025) 193-197]	3
127. Characterization of alternative transcription start and termination sites in glioblastoma	3
Editorial Board	3
57. A rare case of near-tetraploidy in CLL: An investigation by MLPA, FISH, and chromosome analysis	3
56. Optical genome mapping reveals genomic complexity and detects novel genetic abnormalities in T-Lymphoblastic Leukemia	3
24. Donor-derived acute myeloid leukemia in a recipient of liver-transplantation	3
Editorial Board	3
Lynch syndrome caused by a novel deletion of the promoter and exons 1–13 of MLH1 gene	3
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
66. Screening for genetic predisposition to pediatric leukemia in a Peruvian population	2
20. Diagnostic utility and lessons learned from deep sequencing vascular malformations	2
Biological landscape of human papilloma virus-related head and neck cancer according to virus genotype	2
89. TCF3::ZNF384 in a Peruvian girl with mixed-phenotype acute leukemia and poor treatment outcome	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
98. A bioinformatics analysis of differentially expressed genes in non-small cell lung cancer subtypes	2
93. Surveying the genomic landscape of Mantle Cell Lymphoma	2
9. The dual PI3K inhibitor duvelisib potently inhibits cytokine release syndrome while maintaining CAR-T function	2
Mechanistic study of Liquiritigenin inhibiting bladder cancer cell proliferation and migration by regulating STING1	2
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	2
41. Step 2 updates for the oncogenic assessment of FLT3 variants by the ClinGen FLT3 somatic cancer variant curation expert	2
48. Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies	2
83. Cytogenetic and molecular characterization of IDH-mutant adult-type diffuse gliomas with near-total 1p/19q co-deletions	2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	2
74. Dilemma of selecting the optimal diagnostic test(s) for genetic biomarkers in hematologic malignancies	2
Clonal cytogenetic abnormality in IgG4-related disease	2
In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers	2
21. Translating human readable variation descriptions to unique computable variations with the Variation Normalizer	2
28. Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies	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
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
Composite mantle cell lymphoma with cryptic ins(11;2)(q13;p11.2p11.2)/IGK::CCND1 and lymphoplasmacytic lymphoma with MYD88 L265P mutation	2
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement	2
Mutations of ARID1B, PIK3C2B, KMT2B, and FAT1 genes influence clinical outcome in newly diagnosed myeloma	2
34. A molecular and clinicopathologic analysis of primary intracranial sarcomas	2
24. Methylation sequencing enhances interpretation of clonal hematopoiesis dynamics	2
Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients	2
75. Clinical implementation of a precision medicine consultation service	2
Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma	2
24. Clinical utility of optical genome mapping: comparison with standard cytogenomics work-up for hematological malignancies	2
ADAR1 gene expression and its importance in breast cancer	2
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment	2
1. Enrichment of Hodgkin and Reed-Sternberg (HRS) cells using size-based microfiltration	2
85. Microfilter enrichment of Hodgkin and Reed-Sternberg (HRS) cells	1
103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas	1
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar	1

38. Assessment of TRG and TRB clonality by NGS of dermatologic specimens is impacted by biopsy type, DNA and amplicon sizes	1
The impact of extracellular vesicles on breast cancer metastasis and therapeutics: genetic considerations	1
11. Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants	1
41. Participant reflections from the program for evaluation of Ashkenazi Jewish Cancer heritability involving the BRCA genes	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
138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies	1
107. MyVariant.info: a gateway to integrated resource of variant annotations	1
Regulator of G-protein signaling 14 (RGS14) promotes cancer growth in hepatocellular carcinoma	1
Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a pediatric patient	1
Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients	1
133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutation	1
94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma	1
24. Archer system copy number alteration caller: User experience	1
3. Optical genome mapping reveals novel structural variants in pediatric high grade gliomas	1
131. Clonal Hematopoiesis is associated with risk of Cardiovascular Disease in individuals with Human Immunodeficiency Virus	1
100. Ultrasensitive molecular residue disease detection enabled by genome wide concatemer error correction	1
43. Fusion Curation Interface: an educational tool to explore a unified framework for representing & curating gene fusions	1
DNA quality challenges in breast cancer samples from three low-middle income African countries: a straightforward protocol for research in cancer genomics	1
Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant	1
16. ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels	1
Influence of IL-38 as a novel biomarker on the pathophysiological processes of esophageal cancer	1
Two MLN-TK patients with ETV::ABL1 fusions mediated by different mechanisms with false negative FISH results resolved with RNA fusion analysis	1
6. Emerging clinically-relevant applications of ultra-sensitive mutation detection	1
Ellagic acid inhibits EZH2: a potential epigenetic therapeutic molecule for cancer	1
5. Overcoming challenges in semantic alignment of therapeutics knowledge using TheraPy	1
4. Current applications of cell-free DNA in pregnancy and oncology	1
Villin1 predicts survival and adjuvant TACE response in hepatocellular carcinoma	1
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients	1
8. Optical genome mapping analysis of FMR1 expansions in fragile X syndrome	1
68. Orthogonal approaches to validate a knowledgebase of interpretations of clinically relevant somatic cancer variants	1
High YEATS4 expression characterizes MDM2-amplified liposarcoma	1
Prelims	1
The promise of TRK inhibitors in pediatric cancers with NTRK fusions	1
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1	1
20. Comparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors	1
90. TERT promoter mutation detection by ddPCR in glial atypia	1
81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes	1
53. Microarray-based 'rescue' of failed karyotype testing	1
62. Characterization of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with KMT2A amplification	1
Synchronous driver gene alterations (EGFR L858R, T790M, and ROS1) rearrangements in a patient with early-stage lung adenocarcinoma	1
Editorial Board	1
Acute cardiac dysfunction in patients with ovarian cancer treated with Niraparib due to TFAM mutation: A case series and functional analysis	1
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer	1
42. MDM2 and centromere 12 co-amplification presents diagnostic challenge in low grade adipocytic tumors	1
105. Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid	1
63. A female-specific chimeric RNA with differential expression in COVID patients	1
128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods	1
44. UMI-based expanded NGS panel in precision molecular diagnosis of vascular anomalies: Early results	1
83. Quantum lattices for early cancer detection through machine learning	1
TRIM29 promotes glioblastoma progression via ubiquitinating NEFL and activating the PI3K/AKT signaling pathway	1
Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer	1
38. Oncogenic evidence in the CIViC data model	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
9. Optical genome mapping workflow for identification and annotation of variants in hematological malignancy	1
46. Integrative cytogenetic and molecular studies unmasks `chromosomal mimicry' in hematologic malignancies	1
WDR54 enhances NF-κB signaling to promote progression of hepatocellular carcinoma	1
82. Can mitochondrial DNA mutations be used as a biomarker for endometrial cancer?	1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	1
130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41	1
Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma	1
59. Constellation of rare genetic abnormalities associated with MECOM rearrangement in AML	1
55. Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers	1
53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important	1
36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis	1
65. Creating a common language for categorical variants	1
23. Complementarity of RNA sequencing and optical genome mapping in detection of rare fusions in pediatric B-ALL	1
70. Assessment of circulating tumor DNA tumor mutational burden to define resistance in HR+ HER2- metastatic breast cancer	1
12. Contextualizing clinical significance using FDA label supplemented DGI data	1
96. Dissection of the expressed actionable fusions' repertoire in solid tumors in a clinical setting across 14 cancer types	1
5. Implementation of Automatic Slide Processing for Aneuploidy FISH Test	1
The effect of HOTAIR gene variants on the development of bladder cancer and its clinicopathological characteristics in a Caucasian population	1
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma	1
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes	1
30. Current next generation sequencing reporting practices: A GOAL Consortium report	1
50. Molecular profiling of Cytolyt-Fixed FNA washes to improve diagnostic yield in lung cancer	1
Potential use of SCAT1, SCAT2, and SCAT8 as diagnostic and prognosis markers in colorectal cancer	1
45. Examining potential candidate genes within deletions of 3p14.2 to 3p14.1 in two cases of autism and developmental delay	1
91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia	1
The role of miR-10b-5p in prostate cancer and its exosome-mediated angiogenesis effect	1
125. Expect the unexpected? Microarray analyses of pediatric tumors	1