Cancer Genetics

Article	Citations
Multi-omics inference of differential breast cancer-related transcriptional regulatory network gene hubs between young Black and White patients	43
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas	22
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies	21
88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakistan	20
Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic abnormalities in Mantle Cell Lymphoma	19
Unfolded protein response signature unveils novel insights into breast cancer prognosis and tumor microenvironment	18
A mechanistic insight into cancer progression mediated by Nucleoporins	18
A 10-gene-methylation-based signature for prognosis prediction of colorectal cancer	15
Interpretative differences of combined cytogenetic and molecular profiling highlights differences between MRC and ELN classifications of AML	14
24. Methylation sequencing enhances interpretation of clonal hematopoiesis dynamics	13
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation	12
23. Detection of somatic tumor mutations in circulating plasma DNA of patients with sellar and skull base tumors	12
40. Prioritization of defining and supportive diagnostic variants in pediatric tumors	12
25. Enhancing precision oncology: The value of open-source knowledgebase integration	12
2. Diagnostic next generation sequencing to detect MYD88 L265P in lymphoplasmacytic lymphoma compared to ddPCR	11
42. Piloting NTRK fusion-specific oncogenicity guidelines: Lessons learned	11
11. Developing a robust bioinformatics workflow to support personalized neoantigen vaccine clinical trials	10
69. Expert consensus standardization of FGFR3 SNV oncogenicity classification and interpretation	10
76. Automating immunogenomic tumor board decision-making for neoantigen cancer vaccine design	10
64. A rare finding of triple KRAS mutations with OmniSeq® INSIGHT in a patient with colorectal adenocarcinoma	9
Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology	8
Editorial Board	8
74. Dilemma of selecting the optimal diagnostic test(s) for genetic biomarkers in hematologic malignancies	8
A pediatric BAL case with double Ph chromosomes and trisomy 5	8
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma	8

60. Panning for neoantigens to demonstrate feasibility of neoantigen vaccines in canine melanoma	7
34. Discovery of circular RNAs through integration of short- and long-read RNA sequencing	7
67. Long noncoding RNAs encoding peptides in cancer	7
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.	7
28. Detection of small mutations, copy number alterations and structural variations from targeted cfDNA sequencing in cancer	7
68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk	7
51. Discerning cell types and states in spatial transcriptomics data using topic modelling	7
1. Microdeletion 13q12.2 in B cell acute lymphoblastic leukemia: Little but important!	7
20. Diagnostic utility and lessons learned from deep sequencing vascular malformations	6
28. Identification of TP53 germline variants in pediatric patients undergoing tumor testing	6
43. Adapting CIViC, a cancer variant interpretation knowledgebase, to support variants in disorders of somatic mosaicism	6
29. Launching a CGC initiative to support trainees and early career members: Survey results and analysis	6
49. Clinical validation of Infinium CytoSNP-850K SNP-Array for routine copy number profiling of hematological malignancies	6
17. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions	6
34. A molecular and clinicopathologic analysis of primary intracranial sarcomas	6
48. Crowdsourcing expert curation of somatic variants by the ClinGen Somatic Hematologic Cancer Taskforce	6
123. Chromosomal microarray assists interpretation of cytogenetic abnormalities in hematopoietic malignancies	5
Editorial Board	5
4. ETV6-ABL1 variant rearrangement described in a childhood ALL patient	5
21. A case of acute myeloid leukemia with gain of two copies of neocentromeric chromosome 11	5
30. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): a 2.5-year retrospective study from the Mayo Clinic	5
44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process	5
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement	5
Editorial Board	5
121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma	5
43. Structural changes characterized by whole genome mate-pair sequencing in a case with ETV6/ABL1 gene fusion and atypical Chronic Myeloid Leukemia	5
22. Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes	5
35. Frequencies of Turner syndrome abnormalities as detected by high resolution chromosomal microarray in products of conception and postnatal blood samples	5
51. PS4 utilization for PIK3CA variants implicated in disorders of somatic mosaicism	5
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures	5
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy	5
52. Optical genome mapping and SNP microarray: integrated workflow for optimizing analysis of products of conception	5
23. Incidental findings on XON array: Our experience over the last two years	5
38. A rare constitutional 13q deletion associated with retinoblastoma and chronic lymphocytic leukemia	5
14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level	4
13. HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors	4
33. Variability in sex and phenotype: Impact of a familial pathogenic DHX37 variant leading to 46,XY gonadal dysgenesis	4
32. Genetic testing for individuals with non-syndromic differences in sex development (DSD): collaborative approach yields results	4
Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype	4
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions	4
83. Cytogenetic and molecular characterization of IDH-mutant adult-type diffuse gliomas with near-total 1p/19q co-deletions	4
Detecting the “undetectable” alterations: Use of NGS to uncover high-risk alterations	4
9. Implementation survey of the ACMG/CGC standards for interpretation of acquired CNAs and CN-LOH in neoplastic disorders	4
76. Von Hippel-Lindau syndrome in a patient with negative germline testing	4
81. Prediction of plant based EGFR inhibitors against breast cancer (EGFR) using machine learning model	4
89. TCF3::ZNF384 in a Peruvian girl with mixed-phenotype acute leukemia and poor treatment outcome	3
26. An ATIC::ALK fusion created by balanced insertion rather than inversion of chromosome 2 in an ALK+ anaplastic large cell lymphoma	3
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant	3
86. Whole genome sequencing of mouse derived cell-free DNA to develop a NF1-MPNST-PDX liquid biopsy model	3
64. Utilizing rapid molecular testing to reduce disparities in pediatric cancer in Sub-Saharan Africa	3

51. Rare SRY-positive derivative X chromosome in female fetus with apparently normal development	3
42. Automated deep aberration detection from chromosome karyotype images	3
27. Five-year experience of evaluating individuals at-risk for underlying genetic predisposition to hematologic malignancy	3
48. Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies	3
Upregulation of shelterin and CST genes and longer telomeres are associated with unfavorable prognostic characteristics in prostate cancer	3
52. ClinGen Pediatric Cancer Taskforce initiatives to advance pediatric clinical interpretations through expert curation	3
27. Deregulation and shattering of chromosomal segments containing multiple oncogenic targets in the pathogenesis of diffuse large B cell lymphoma (DLBCL)	3
11. Structural variation discovery and interpretation in the era of cytogenomics	3
85. Cell-type-specific genotypic interpretation in the human breast	3
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	3
49. A novel method for detection of loss of heterozygosity using B-allele frequency from optical genome mapping data	3
41. Resolving ambiguities in copy number variation representation	3
90. Genetic biomarkers in pediatric B-cell acute lymphoblastic leukemia detected by NGS in a Peruvian population	3
17. Djerba: A modular system to generate clinical genome interpretation reports for cancer	3
54. VMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies and overgrowth disorders	3
96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report	3
TRK inhibitor activity and resistance in TRK fusion-positive cancers in adults	3
1. Clinical utility of low-pass whole genome sequencing (LP-WGS) and targeted panel sequencing in liquid biopsies for disease diagnosis and monitoring of patients with pediatric solid tumors	3
116. Integrating methylation profiling into adult brain tumor diagnostics - the Australian experience	3
66. Screening for genetic predisposition to pediatric leukemia in a Peruvian population	3
50. Analysis of gene rearrangements in neoplasms with Hi-C sequencing using fresh-frozen and FFPE specimens	3
30. Chromosomal microarray analysis work-up for hypocellular MDS patients with inconclusive cytogenetics	3
23. Optical genome mapping reveals new insights into ZFTA fusion in supratentorial ependymomas	3
18. Investigation of pathogenic and truncated variants of RUNX1 and DDX41 in All of Us	3
56. Whole-exome sequencing identifies somatic mutations penile squamous cell carcinoma	3
The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer	2
99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden	2
74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies	2
Editorial Board	2
100. Identification of unique subtypes of pediatric high-grade glioma by comparative tumor transcriptomics	2
Dysregulation of metallothionein MT1 sub-types in TCF3::PBX1 pre-B-cell acute lymphoblastic leukemia	2
15. Clinical validation of non-invasive prenatal screening using synthetic plasmas	2
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	2
6. Optical genome mapping as a potential Tier1 test for Postnatal Chromosomal Disorders – results of multi-institutional validation study of 331 retrospective clinical samples	2
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	2
Partial tandem duplication of KMT2A gene in patient afflicted with hypereosinophilic syndrome: A case report	2
Rare and favorable prognosis of pediatric acute lymphoblastic leukemia with TLS-ERG fusion gene: Case report with long-term follow-up and review of literature	2
Editorial Board	2
Corrigendum to “Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer” [Cancer Genetics Volumes 276	2
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues [Cancer Genetics 268-269 (2022) 137-143]	2
Somatic tumor testing implications for Lynch syndrome germline genetic testing	2
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	2
34. A rare case of 46,XX/47,XXY mosaic Klinefelter syndrome in an infant	2
Mutations of ARID1B, PIK3C2B, KMT2B, and FAT1 genes influence clinical outcome in newly diagnosed myeloma	2
28. Trisomy 21 silencing in hematopoietic and neural cells: New insights and prospects	2
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes	2
2. Analytical tools to support detection of homologous recombination deficiency (HRD) using cytogenomic scar markers	2
LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway	2
Consensus molecular subtyping of colorectal cancers is influenced by goblet cell content	2
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	2
RNA profile of immuno‐magnetically enriched lung cancer associated exosomes isolated from clinical samples	2
Editorial Board	2
82. Enabling large scale precision oncology research with a new standard for genomic variants: OMOP Genomic	2
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey	2
Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels	2
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma	2
31. Rare familial rearrangement with acrocentric satellite material on Yp relocating to Xp in a female fetus	2
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity	2
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements	2
A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma	2
20. Paternal UPD14 and sSMC derived from chromosome 14: A case report	2
MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients	2
Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD	2
Evaluation of anti-angiogenic agent F16 for targeting glioblastoma xenograft tumors	2
The prognostic significance of FOXC2 gene expression in cancer: A comprehensive analysis of RNA-seq data from the cancer genome atlas	1
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes	1
24. Clinical utility of mate pair sequencing as a reflex test in B-lymphoblastic leukemia/lymphoma	1
5. Further evidence of GABRA4 and TOP3B as autism susceptibility genes	1
45. Next-generation cytogenomic characterization of two complex prenatal cases by Saphyr's genome optical mapping	1
Clonal cytogenetic abnormalities in donor-derived cells after sex mismatched allogeneic stem cell transplantation	1
109. Use of Bionano Optical Genome Mapping in a multi-platform structural variation analysis of a cancer reference cell line	1
33. Tumor cellularity estimation in a targeted NGS panel of tumor-only specimens expands analytical utility	1
38. Assessment of TRG and TRB clonality by NGS of dermatologic specimens is impacted by biopsy type, DNA and amplicon sizes	1
51. Remember breakpoint two. Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements	1
14. Deletions resulting in Brachydactyly Mental Retardation Syndrome (BDMR): Multiple contributing regions in distal 2q37	1
55. Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers	1
57. Developing oncogenicity guidelines for BCR::ABL1-like B-lymphoblastic leukemia/lymphoma through expert consensus	1
3. Application of optical genome mapping to identify samples with homologous recombination deficiency	1
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	1
16. International working group recommendations for the implementation of optical genome mapping in Hematologic Malignancies	1

Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3)	1
129. Standardization of cancer terminology in the Mondo Disease Ontology	1
103. Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP GATA2 variant curation rules	1
92. The ClinGen Somatic CDWG supports somatic variant curation and interpretation through structured guidance and procedures	1
41. Participant reflections from the program for evaluation of Ashkenazi Jewish Cancer heritability involving the BRCA genes	1
53. Re-analysis of reported constitutional copy number variants using the newly published 2019 ACMG/ClinGen Technical Standards reveals few significant interpretation changes	1
55. CMA and concurrent karyotyping for MCA, ASD, and/or DD/ID patients: Cost effectiveness based on our 7-year experience	1
11. Validation and implementation of BioDot instruments for semi-automated FISH slide processing	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
40. Correlation of histology, CCND1 over-expression, and CCND1 rearrangement in Renal Cell Carcinomas	1
8. A partial deletion of the EP300 gene detected by microarray in an individual with mild autism	1
37. Chromosomal microarray in the investigation of ASD: Diagnostic yield of 333 cases	1
68. Orthogonal approaches to validate a knowledgebase of interpretations of clinically relevant somatic cancer variants	1
52. Variant classification versus variant interpretation: There is a difference	1
110. Discovery and characterization of novel fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL)	1
33. Optical Genome Mapping identifies additional cytogenetic abnormalities in patients with hematologic malignancies	1
48. ALK tissue FISH in lung cancer: The MDACC experience	1
14. Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement	1
RNA-Based next generation sequencing complements but does not replace fluorescence in situ hybridization studies for the classification of aggressive B-Cell lymphomas	1
56. Variants of established clinical significance: Progress and challenges in the VECS SC-VCEP	1
Paediatric B lymphoblastic leukaemia with hyperdiploidy and a false-positive KMT2A fluorescence in situ hybridization result	1
High incidence of PI3K pathway gene mutations in South Indian cervical cancers	1
8. Harnessing the power of microarray in the analysis of rarer pediatric sarcomas	1
105. Machine learning for automated tumor classification based on mutation repertoire	1
126. MECOM rearrangement by Pericentric Inversion 3 presents a diagnostic challenge	1
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS	1
84. Challenges in the clinical implementation of the large next-generation sequencing oncomine comprehensive plus assay	1
61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma	1
47. Optical genome mapping in hematological malignancy: Clinical outcomes in a 2-year follow-up retrospective study	1
Editorial Board	1
103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas	1
Importance of conventional cytogenetics in the identification of ins(19;X)(q13.1;p11.2q28) and t(1;11)(q10;p10), both, novel cytogenetic abnormalities in a pediatric AML case	1
36. Classifying benign multigenic CNVs: Exploring available population databases	1
Multi-region sequencing reveals genetic correlation between esophageal squamous cell carcinoma and matched cell-free DNA	1
20. Increased Polo-like kinase 1 (Plk1) expression promotes centrosome amplification, chromosomal instability, and tumor formation in a mouse model	1
Editorial Board	1
25. Large scale analysis in Von Hippel-Lindau disease	1
22. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): A retrospective study from Mayo Clinic	1
46. Integrative cytogenetic and molecular studies unmasks `chromosomal mimicry' in hematologic malignancies	1
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3’UTR of the MSH6 gene	1
4. Comprehensive next generation cytogenomics improves risk stratification of acute myeloid leukemia	1
Classification of fluorescent R-Band metaphase chromosomes using a convolutional neural network is precise and fast in generating karyograms of hematologic neoplastic cells	1
17. Deconvolution of genetic heterogeneity in Glioblastoma using multi-region sampling	1
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	1
A t(11;14)(q13;q32)/CCND1::IGH carrying progenitor germinal B-cell with subsequent cytogenetic aberrations contributes to the development of classic Hodgkin lymphoma	1
102. Using cytogenomics to distinguish two types of renal cell carcinoma in a composite or collision tumor	1
87. A tale of two aspirates: sequential pulls of bone marrow yield discordant results in hepatosplenic T-cell lymphoma	1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	1
47. Tumour-only NGS profiling: Application of data filters to identify candidate germline variants	1