Cancer Genetics

Article	Citations
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures	197
13. HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors	89
27. Five-year experience of evaluating individuals at-risk for underlying genetic predisposition to hematologic malignancy	56
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	31
96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report	30
17. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions	28
49. Clinical validation of Infinium CytoSNP-850K SNP-Array for routine copy number profiling of hematological malignancies	27
26. An ATIC::ALK fusion created by balanced insertion rather than inversion of chromosome 2 in an ALK+ anaplastic large cell lymphoma	24
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity	24
64. A rare finding of triple KRAS mutations with OmniSeq® INSIGHT in a patient with colorectal adenocarcinoma	17
Exploring the role of transcription factor TWIST1 in bladder cancer progression	16
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation	16
2. Diagnostic next generation sequencing to detect MYD88 L265P in lymphoplasmacytic lymphoma compared to ddPCR	16
40. Prioritization of defining and supportive diagnostic variants in pediatric tumors	16
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	15
LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway	14
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	14
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	13
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements	13
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	13
6. Optical genome mapping as a potential Tier1 test for Postnatal Chromosomal Disorders – results of multi-institutional validation study of 331 retrospective clinical samples	13
Comprehensive analysis of PLKs expression and prognosis in breast cancer	13
28. Trisomy 21 silencing in hematopoietic and neural cells: New insights and prospects	13
31. Rare familial rearrangement with acrocentric satellite material on Yp relocating to Xp in a female fetus	12

61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma	11
74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies	11
8. Harnessing the power of microarray in the analysis of rarer pediatric sarcomas	9
99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden	9
16. International working group recommendations for the implementation of optical genome mapping in Hematologic Malignancies	8
102. Using cytogenomics to distinguish two types of renal cell carcinoma in a composite or collision tumor	8
3. Application of optical genome mapping to identify samples with homologous recombination deficiency	8
56. Variants of established clinical significance: Progress and challenges in the VECS SC-VCEP	8
17. Deconvolution of genetic heterogeneity in Glioblastoma using multi-region sampling	8
4. Comprehensive next generation cytogenomics improves risk stratification of acute myeloid leukemia	8
15. Clinical impact of in-house molecular testing for underserved cancer patients in southern Alabama	8
70. Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia	8
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS	8
14. Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement	8
36. Significant copy number variants and loss of heterozygosity in Wilms Tumor: Insights from Nationwide Pediatric Oncology	8
129. Standardization of cancer terminology in the Mondo Disease Ontology	8
53. Uveal melanoma - The New Zealand perspective	7
22. Cell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy	7
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer	7
Ewing sarcoma of the rib with a rare PTEN mutation	7
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression	7
14. Four-way translocation in a patient with mild clitoromegaly	7
Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population	7
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	7
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature	7
A complex t(15;22;17)(q22;q11.2;q21) variant of APL	7
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues	7
Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer	7
Mutation status in yes-associated protein 1 (YAP1) in an insulinoma cell line Rin-5F	7
50. Chromosomal microarray uncovers novel mechanisms of progression in myelodysplastic syndromes with normal karyotype	6
7. Overview of recurrent and novel gene fusions detected in a clinical diagnostic laboratory	6
63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene	6
18. Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia	6
32. Clinical utility and feasibility of adopting optical genome mapping for chromosomal characterization of solid tumors	6
76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs	6
139. Feasibility of comprehensive whole genome profiling in hematological malignancies	6
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	6
44. Clinical utility of pharmacogenomics testing with an expanded panel	6
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
Prognosis prediction and drug guidance of ovarian serous cystadenocarcinoma through mitochondria gene-based model	6
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
Clinical management of TP53 mosaic variants found on germline genetic testing	5
24. Tissue-based sequencing for laboratory diagnosis of Somatic Mosaic Disorders	5
26. Co-occurrence of rosette-forming glioneuronal tumors with Noonan Syndrome	5
60. AI-guided histopathology predicts brain metastasis in lung cancer patients	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
2. Clinical, cytogenetic and genomic profiling of B-Other Acute Lymphoblastic Leukemia: An Indian cohort study	5
16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype	5

38. Formation of a tumor-specific gene list: The Central Nervous System (CNS) tumor taskforce experience	5
Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia	5
66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types	5
120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel	5
TERT gene rearrangement in chordomas and comparison to other TERT-rearranged solid tumors	4
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children	4
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)	4
56. Optical genome mapping reveals genomic complexity and detects novel genetic abnormalities in T-Lymphoblastic Leukemia	4
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions	4
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma	4
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients	4
Molecular follow-up of first-line treatment by osimertinib in lung cancer: Importance of using appropriate tools for detecting EGFR resistance mutation C797S	4
77. dic(7;9):A distinct entity in B-ALL with multiple genomic aberrations including IKAROS and PAX5	4
Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia.	4
A rare case of atypical chronic myeloid leukemia associated with t(8;22)(p11.2;q11.2)/ BCR-FGFR1 rearrangement: A case report and literature review	4
4. Glioblastomas with MAPK pathway alterations show low grade histologic features and present novel therapeutic targets	4
Editorial Board	3
77. Mining COSMIC for frameshift neoantigens as `off-the-shelf' therapeutic cancer vaccine candidates	3
18. Trisomy 18p detected in DNA from saliva but absent in DNA from blood	3
127. Characterization of alternative transcription start and termination sites in glioblastoma	3
30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies	3
The oncogenic roles of NTRK fusions and methods of molecular diagnosis	3
28. Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies	3
21. Translating human readable variation descriptions to unique computable variations with the Variation Normalizer	3
A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists	3
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum	3
Editorial Board	3
57. A rare case of near-tetraploidy in CLL: An investigation by MLPA, FISH, and chromosome analysis	3
Lynch syndrome caused by a novel deletion of the promoter and exons 1–13 of MLH1 gene	3
65. Insights into the genetic heterogeneity of glioblastoma: gene amplification in ecDNA and HSR	3
Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway	3
75. Clinical implementation of a precision medicine consultation service	3
24. Clinical utility of optical genome mapping: comparison with standard cytogenomics work-up for hematological malignancies	3
9. The dual PI3K inhibitor duvelisib potently inhibits cytokine release syndrome while maintaining CAR-T function	3
98. A bioinformatics analysis of differentially expressed genes in non-small cell lung cancer subtypes	3
7. Optical genome mapping for prenatal diagnostic testing	3
94. Initial efforts of the ClinGen Solid Tumor Taskforce in promoting variant curation in solid tumors into CIViC	3
45. Clonal hematopoiesis in childhood cancer survivors	3
Editorial Board	3
24. Donor-derived acute myeloid leukemia in a recipient of liver-transplantation	3
22. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias	3
In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers	3
78. Next generation cytogenomics improves patient risk stratification in acute myeloid leukemia	3
93. Surveying the genomic landscape of Mantle Cell Lymphoma	3
Editorial Board	2
Differences in the mitochondrial microsatellite instability of Keratoacanthoma and cutaneous squamous cell carcinoma	2
48. Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies	2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	2
89. TCF3::ZNF384 in a Peruvian girl with mixed-phenotype acute leukemia and poor treatment outcome	2
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment	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
74. Dilemma of selecting the optimal diagnostic test(s) for genetic biomarkers in hematologic malignancies	2
55. Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers	2
Dysregulation of metallothionein MT1 sub-types in TCF3::PBX1 pre-B-cell acute lymphoblastic leukemia	2
41. Participant reflections from the program for evaluation of Ashkenazi Jewish Cancer heritability involving the BRCA genes	2
46. Integrative cytogenetic and molecular studies unmasks `chromosomal mimicry' in hematologic malignancies	2
103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas	2
83. Cytogenetic and molecular characterization of IDH-mutant adult-type diffuse gliomas with near-total 1p/19q co-deletions	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
34. A molecular and clinicopathologic analysis of primary intracranial sarcomas	2
Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma	2
Biological landscape of human papilloma virus-related head and neck cancer according to virus genotype	2
20. Diagnostic utility and lessons learned from deep sequencing vascular malformations	2
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	2
Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel	2
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	2
41. Step 2 updates for the oncogenic assessment of FLT3 variants by the ClinGen FLT3 somatic cancer variant curation expert	2
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes	2
66. Screening for genetic predisposition to pediatric leukemia in a Peruvian population	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
7. AI-Based Algorithms for neoplastic metaphase cells boost efficiencies in the cytogenetics laboratory	2
Mechanistic study of Liquiritigenin inhibiting bladder cancer cell proliferation and migration by regulating STING1	2
Composite mantle cell lymphoma with cryptic ins(11;2)(q13;p11.2p11.2)/IGK::CCND1 and lymphoplasmacytic lymphoma with MYD88 L265P mutation	2
24. Methylation sequencing enhances interpretation of clonal hematopoiesis dynamics	2
1. Enrichment of Hodgkin and Reed-Sternberg (HRS) cells using size-based microfiltration	2
Multi-region sequencing reveals genetic correlation between esophageal squamous cell carcinoma and matched cell-free DNA	2
68. Orthogonal approaches to validate a knowledgebase of interpretations of clinically relevant somatic cancer variants	2
38. Assessment of TRG and TRB clonality by NGS of dermatologic specimens is impacted by biopsy type, DNA and amplicon sizes	2

8. Optical genome mapping analysis of FMR1 expansions in fragile X syndrome	1
42. MDM2 and centromere 12 co-amplification presents diagnostic challenge in low grade adipocytic tumors	1
100. Ultrasensitive molecular residue disease detection enabled by genome wide concatemer error correction	1
Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients	1
43. Fusion Curation Interface: an educational tool to explore a unified framework for representing & curating gene fusions	1
128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods	1
63. A female-specific chimeric RNA with differential expression in COVID patients	1
9. Optical genome mapping workflow for identification and annotation of variants in hematological malignancy	1
44. UMI-based expanded NGS panel in precision molecular diagnosis of vascular anomalies: Early results	1
107. MyVariant.info: a gateway to integrated resource of variant annotations	1
31. Automated fluorescence in situ hybridization (FISH) imaging and analysis validation using BioView Duet-3 System	1
10. Current state of diagnostic testing in pediatric sarcoma: practical solutions to diagnostic challenges	1
36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis	1
6. Emerging clinically-relevant applications of ultra-sensitive mutation detection	1
70. Assessment of circulating tumor DNA tumor mutational burden to define resistance in HR+ HER2- metastatic breast cancer	1
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1	1
62. Characterization of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with KMT2A amplification	1
54. Concordance of blood and tissue TMB from real-world NGS testing and their ties to immunotherapy response	1
A new four-way complex translocation variant involving the t(8;5;21;4)(q21;q13;q22;q31) and the relocalization of AML1/ETO fusion gene	1
3. Optical genome mapping reveals novel structural variants in pediatric high grade gliomas	1
Potential use of SCAT1, SCAT2, and SCAT8 as diagnostic and prognosis markers in colorectal cancer	1
53. Microarray-based 'rescue' of failed karyotype testing	1
138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies	1
Editorial Board	1
Prelims	1
81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes	1
4. Current applications of cell-free DNA in pregnancy and oncology	1
11. Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants	1
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture	1
Lynch syndrome: further defining the pediatric spectrum	1
38. Oncogenic evidence in the CIViC data model	1
125. Expect the unexpected? Microarray analyses of pediatric tumors	1
45. Examining potential candidate genes within deletions of 3p14.2 to 3p14.1 in two cases of autism and developmental delay	1
When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives	1
105. Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid	1
15. ClinGen Somatic Cancer expert curation panel for FGFR genes in Genitourinary Cancer	1
85. Microfilter enrichment of Hodgkin and Reed-Sternberg (HRS) cells	1
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer	1
137. Estimation of familial DNA contamination using Mendelian inconsistencies from next generation sequencing of trios	1
130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41	1
83. Quantum lattices for early cancer detection through machine learning	1
3. Complex and cryptic EWSR1-FLI1 gene fusions and 1q jumping translocation in pediatric Ewing sarcomas	1
Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma	1
12. Contextualizing clinical significance using FDA label supplemented DGI data	1
65. Creating a common language for categorical variants	1
131. Clonal Hematopoiesis is associated with risk of Cardiovascular Disease in individuals with Human Immunodeficiency Virus	1
82. Can mitochondrial DNA mutations be used as a biomarker for endometrial cancer?	1
96. Dissection of the expressed actionable fusions' repertoire in solid tumors in a clinical setting across 14 cancer types	1
24. Archer system copy number alteration caller: User experience	1
90. TERT promoter mutation detection by ddPCR in glial atypia	1
16. ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels	1
50. Molecular profiling of Cytolyt-Fixed FNA washes to improve diagnostic yield in lung cancer	1
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients	1
Regulator of G-protein signaling 14 (RGS14) promotes cancer growth in hepatocellular carcinoma	1
78. Identification of a non-productive KMT2A rearrangement in B-ALL with apparent concurrent ETV6::RUNX1 and KMT2A fusions	1
Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant	1
91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia	1
30. Current next generation sequencing reporting practices: A GOAL Consortium report	1
5. Overcoming challenges in semantic alignment of therapeutics knowledge using TheraPy	1
59. Constellation of rare genetic abnormalities associated with MECOM rearrangement in AML	1
5. Implementation of Automatic Slide Processing for Aneuploidy FISH Test	1
Synchronous driver gene alterations (EGFR L858R, T790M, and ROS1) rearrangements in a patient with early-stage lung adenocarcinoma	1
53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important	1
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients	1
32. Whole transcriptome sequencing as a diagnostic tool for AML	1
94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma	1
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma	1
The promise of TRK inhibitors in pediatric cancers with NTRK fusions	1
23. Complementarity of RNA sequencing and optical genome mapping in detection of rare fusions in pediatric B-ALL	1
20. Comparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors	1
133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutation	1