Cancer Genetics

Article	Citations
Potential role of microRNAs in the treatment and diagnosis of cervical cancer	47
The combination of WGS and RNA-Seq is superior to conventional diagnostic tests in multiple myeloma: Ready for prime time?	32
Identification of gene modules and hub genes in colon adenocarcinoma associated with pathological stage based on WGCNA analysis	30
DNA damaging agents and DNA repair: From carcinogenesis to cancer therapy	29
Comparison of four next generation sequencing platforms for fusion detection: Oncomine by ThermoFisher, AmpliSeq by illumina, FusionPlex by ArcherDX, and QIAseq by QIAGEN	21
Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing	19
MicroRNAs in breast cancer: New maestros defining the melody	18
Promoter hypermethylation regulates vitamin D receptor (VDR) expression in colorectal cancer-A study from Kashmir valley	17
TRK inhibitor activity and resistance in TRK fusion-positive cancers in adults	16
A melanoma patient with macrophage-cancer cell hybrids in the primary tumor, a lymph node metastasis and a brain metastasis	14
Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia	14
Alcohol consumption and risk of breast and ovarian cancer: A Mendelian randomization study	13
Assessing Genomic Copy Number Alterations as Best Practice for Renal Cell Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium Workgroup	12
The spectrum of tumors harboring BAP1 gene alterations	11
High methylation levels of histone H3 lysine 9 associated with activation of hypoxia-inducible factor 1α (HIF-1α) predict patients’ worse prognosis in human hepatocellular carcinomas	11
Tumor-intrinsic FABP5 is a novel driver for colon cancer cell growth via the HIF-1 signaling pathway	10
Integrative analysis of DNA methylation and gene expression profiles to identify biomarkers of glioblastoma	10
NTRK-Rearranged soft tissue neoplasms: A review of evolving diagnostic entities and algorithmic detection methods	9
The promise of TRK inhibitors in pediatric cancers with NTRK fusions	9
Lynch syndrome: further defining the pediatric spectrum	9
Intrahepatic cholangiocarcinoma development in a patient with a novel BAP1 germline mutation and low exposure to asbestos	9
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing	9
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)	8
Classification of fluorescent R-Band metaphase chromosomes using a convolutional neural network is precise and fast in generating karyograms of hematologic neoplastic cells	8
Comprehensive network analysis of the molecular mechanisms associated with sorafenib resistance in hepatocellular carcinoma	8

Late recurrence of lung adenocarcinoma harboring EGFR exon 20 insertion (A763_Y764insFQEA) mutation successfully treated with osimertinib	8
Comprehensive analysis of PLKs expression and prognosis in breast cancer	8
Double mutation of APC and BRCA1 in an Italian family	8
Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neo	7
Genetic heterogeneity and predictive biomarker for pulmonary sarcomatoid carcinomas	7
NRF2 metagene signature is a novel prognostic biomarker in colorectal cancer	7
The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer	7
EML4-ALK fusion variant.3 and co-occurrent PIK3CA E542K mutation exhibiting primary resistance to three generations of ALK inhibitors	7
LINE-1 retrotransposon encoded ORF1p expression and promoter methylation in oral squamous cell carcinoma: a pilot study	7
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome	7
Diagnostic testing approaches for the identification of patients with TRK fusion cancer prior to enrollment in clinical trials investigating larotrectinib	6
A DNA methylation panel for high performance detection of colorectal cancer	6
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies	6
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome	6
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression	6
Invasive ACTH-producing pituitary gland neoplasm secondary to MSH2 mutation	6
MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients	6
NTRK point mutations and their functional consequences	6
Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis	6
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma	6
Pan-tumor screening for NTRK gene fusions using pan-TRK immunohistochemistry and RNA NGS fusion panel testing	6
Over‐expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells	6
Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors	5
Kinetics of DNA damage repair response accompanying initial hepadnavirus-host genomic integration in woodchuck hepatitis virus infection of hepatocyte	5
Consensus molecular subtyping of colorectal cancers is influenced by goblet cell content	5
Microarray-based analysis of the BRAF V600 mutations in circulating tumor DNA in melanoma patients	5
Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by next-generation sequencing	5
Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study	5
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma	5
Association between XRCC3 Thr241Met polymorphism and risk of gynecological malignancies: A meta-analysis	5
Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology	5
A 10-gene-methylation-based signature for prognosis prediction of colorectal cancer	5
The oncogenic roles of NTRK fusions and methods of molecular diagnosis	5
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients	5
Enrichment of atypical hyperdiploidy and IKZF1 deletions detected by SNP-microarray in high-risk Australian AIEOP-BFM B-cell acute lymphoblastic leukaemia cohort	5
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions	5
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity	5
Cancer risk among RECQL4 heterozygotes	4
Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group	4
Generation and characterization of the Eµ-Irf8 mouse model	4
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	4
BCL11A gene over-expression in high risk neuroblastoma	4
Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome	4
Content of circulating tumor DNA depends on the tumor type and the dynamics of tumor size, but is not influenced significantly by physical exercise, time of the day or recent meal	4
Identification of diagnostic DNA methylation biomarkers specific for early-stage lung adenocarcinoma	4
Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma	4
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey	4
The prognostic significance of FOXC2 gene expression in cancer: A comprehensive analysis of RNA-seq data from the cancer genome atlas	4
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma	4
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment	4

Identification and prevalence of potentially therapeutic targetable variants of major cancer driver genes in ampullary cancer patients in India through deep sequencing	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
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients	4
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3’UTR of the MSH6 gene	4
Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel	4
Multi-omics inference of differential breast cancer-related transcriptional regulatory network gene hubs between young Black and White patients	4
BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone	4
A Novel KMT2A-ARHGEF12 Fusion Gene Identified in a High-Grade B-cell Lymphoma	4
Genetic variants as biomarkers for progression and resistance in multiple myeloma	4
Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers	3
Rare monosomy 7 and deletion 7p at diagnosis of chronic myeloid leukemia in accelerated phase	3
Identification of a novel resistance ALK p.(Q1188_L1190del) deletion in a patient with ALK-rearranged non–small-cell lung cancer	3
Therapy-related acute myeloid leukemia with KMT2A-SNX9 gene fusion associated with a hyperdiploid karyotype after hemophagocytic lymphohistiocytosis	3
First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia	3
Neurotrophic tyrosine receptor kinase fusion in pediatric central nervous system tumors	3
Enhancement of MDM2 inhibitory effects through blocking nuclear export mechanisms in ovarian cancer cells	3
Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors	3
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture	3
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	3
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	3
Integrating transcriptome-wide association study and copy number variation study identifies candidate genes and pathways for diffuse non-Hodgkin's lymphoma	3
t(5;12)(q31;p13)/ETV6::ACSL6 and t(6;9)(p23;q34)/DEK::NUP214 concurrence in acute myeloid leukemia: an unusual association of two rare abnormalities	3
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children	3
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis	3
The role of P62 in the development of human thyroid cancer and its possible mechanism	3
Somatic tumor testing implications for Lynch syndrome germline genetic testing	3
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma	2
Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability	2
CytoGPS: A large-scale karyotype analysis of CML data	2
Trisomy 3, a sole recurrent cytogenetic abnormality in pediatric polymorphic post-transplant lymphoproliferative disorder (PTLD)	2
A novel case of intrachromosomal amplification and insertion of RUNX1 on derivative chromosome 2 in pediatric AML	2
Association of the KRAS genotype and clinicopathologic findings of resected non‐small‐cell lung cancer: A pooled analysis of 179 patients	2
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours	2
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients	2
Somatic mutation variant analysis in rural, resectable non‐small cell lung carcinoma patients	2
A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome	2
Vulvar Melanoma in association with germline MITF p.E318K variant	2
Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer	2
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer	2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	2
Mitochondrial DNA polymorphisms and biogenesis genes in primary and metastatic uveal melanoma cell lines	2
Determination of the key ccRCC-related molecules from monolayer network to three-layer network	2
Enumeration, characterisation and clinicopathological significance of circulating tumour cells in patients with colorectal carcinoma	2
A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers	2
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	2
Novel high–risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53	2
Newly designed breakapart FISH probe helps to identify cases with true MECOM rearrangement in myeloid malignancies	2
Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: A case report	2
Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23)	2
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis	2
Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease	2
Pan-cancer genetic analysis of disulfidptosis-related gene set	2
Interpretative differences of combined cytogenetic and molecular profiling highlights differences between MRC and ELN classifications of AML	2
Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification	2
Novel genomic signature predictive of response to immune checkpoint blockade: A pan-cancer analysis from project Genomics Evidence Neo-plasia Information Exchange (GENIE)	2
Novel MET exon 14 skipping analogs characterized in non-small cell lung cancer patients: A case study	2
Synchronous driver gene alterations (EGFR L858R, T790M, and ROS1) rearrangements in a patient with early-stage lung adenocarcinoma	2
TCGA dataset screening for genes implicated in endometrial cancer using RNA-seq profiling	2
A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib	2
MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes	2
Molecular profiling of gynecologic cancers for treatment and management of disease – demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic v	2
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome	2
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	2
Ossifying low grade endometrial stromal sarcoma with PHF1-BRD8 fusion	1
Copy number alterations identify a smoking-associated expression signature predictive of poor outcome in head and neck squamous cell carcinoma	1
53. Genomic characterization of brain metastases identifies drivers of metastatic lung adenocarcinoma	1
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome	1
A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1	1
45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities	1
Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report	1
36. Quadruple-hit B-cell lymphoma with simultaneous BCL2, BCL6, CCND1, and MYC rearrangements: Two new cases	1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	1
28. Next-generation sequencing as a tool for precision medicine in clinical oncology	1
33. Variability in sex and phenotype: Impact of a familial pathogenic DHX37 variant leading to 46,XY gonadal dysgenesis	1
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect	1
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]	1
Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: Disappearance of cytogenetic abnormalities	1
65. Accurate neoantigen prediction depends on mutation position relative to patient-specific MHC anchor locations	1
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	1
Sensitivity to dabrafenib and trametinib treatments in patients with non-small-cell cancer harboring BRAF compound mutations: A pooled analysis of BRAF p.V600E-positive advanced non-small-cell lung ca	1

Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing	1
A pediatric BAL case with double Ph chromosomes and trisomy 5	1
A variant e13a3 BCR-ABL1 fusion transcript in refractory adult B-cell acute lymphoblastic leukemia achieving complete remission with CAR-Tcell therapy	1
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies	1
24. Clinical considerations for migration between genome assemblies: Lessons learned in moving to GRCh38	1
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?	1
A founder CHEK2 pathogenic variant in association with kidney cancer	1
Longitudinal change of genetic variations in cetuximab-treated metastatic colorectal cancer	1
Implementation of cytogenomic microarray with plasma cell enrichment enables better abnormality detection and risk stratification in patients with plasma cell neoplasia than conventional cytogenetics	1
22. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): A retrospective study from Mayo Clinic	1
Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients	1
How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil	1
Prognostic impact of molecular profiles and molecular signatures in clear cell ovarian cancer	1
Differences in the mitochondrial microsatellite instability of Keratoacanthoma and cutaneous squamous cell carcinoma	1
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma	1
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes	1
Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis	1
8. Integrating genomic and transcriptomic data to identify splice altering mutations across 35 cancer types	1
Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation	1
14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level	1
7. Adoption of optical genome mapping in clinical cancer cytogenetic laboratory: A stepwise approach	1
Evaluation of anti-angiogenic agent F16 for targeting glioblastoma xenograft tumors	1
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family	1
Clinical impact of 5ʹMYC or 3ʹMYC gain/loss detected by FISH in patients with aggressive B-cell lymphomas	1
A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma	1
A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia	1
Evolution of germline TP53 variant classification in children with cancer	1
64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog	1
Complex karyotype with double Philadelphia chromosome and T315I mutation results in blastic phase and extensive extramedullary infiltration in a chronic myeloid leukemia patient	1
Extracellular genetic materials and their application in clinical practice	1
Somatic NF1 mutations in pituitary adenomas: Report of two cases	1
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	1
Gene expression-based immune infiltration analyses of liver cancer and their associations with survival outcomes	1
NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives	1
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies	1
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma	1
Patient with multiple genetically distinct thyroid nodules including papillary thyroid carcinoma harboring novel YWHAG-BRAF fusion	1
RNA profile of immuno‐magnetically enriched lung cancer associated exosomes isolated from clinical samples	1
Rapid FISH results within one hour	1
Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD	1
Identification of variant APL translocations PRKAR1A-RARα and ZBTB16-RARα (PLZF-RARα) through the MI-ONCOSEQ platform	1
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas	1
When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives	1
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions	1
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant	1
Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants	1
Philadelphia chromosome- positive myelodysplastic syndrome with single lineage dysplasia	1
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	1