Cancer Genetics

Article	Citations
DNA damaging agents and DNA repair: From carcinogenesis to cancer therapy	29
TRK inhibitor activity and resistance in TRK fusion-positive cancers in adults	20
Comprehensive analysis of PLKs expression and prognosis in breast cancer	18
Promoter hypermethylation regulates vitamin D receptor (VDR) expression in colorectal cancer-A study from Kashmir valley	18
A melanoma patient with macrophage-cancer cell hybrids in the primary tumor, a lymph node metastasis and a brain metastasis	15
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)	15
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma	14
Pan-cancer genetic analysis of disulfidptosis-related gene set	14
The promise of TRK inhibitors in pediatric cancers with NTRK fusions	12
Tumor-intrinsic FABP5 is a novel driver for colon cancer cell growth via the HIF-1 signaling pathway	12
The spectrum of tumors harboring BAP1 gene alterations	12
Lynch syndrome: further defining the pediatric spectrum	11
Invasive ACTH-producing pituitary gland neoplasm secondary to MSH2 mutation	11
NTRK-Rearranged soft tissue neoplasms: A review of evolving diagnostic entities and algorithmic detection methods	11
Classification of fluorescent R-Band metaphase chromosomes using a convolutional neural network is precise and fast in generating karyograms of hematologic neoplastic cells	10
The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer	10
Integrative analysis of DNA methylation and gene expression profiles to identify biomarkers of glioblastoma	10
Diagnostic testing approaches for the identification of patients with TRK fusion cancer prior to enrollment in clinical trials investigating larotrectinib	9
MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients	9
Late recurrence of lung adenocarcinoma harboring EGFR exon 20 insertion (A763_Y764insFQEA) mutation successfully treated with osimertinib	8
A DNA methylation panel for high performance detection of colorectal cancer	8
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies	8
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma	8
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression	7
Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology	7

EML4-ALK fusion variant.3 and co-occurrent PIK3CA E542K mutation exhibiting primary resistance to three generations of ALK inhibitors	7
Pan-tumor screening for NTRK gene fusions using pan-TRK immunohistochemistry and RNA NGS fusion panel testing	7
Genetic heterogeneity and predictive biomarker for pulmonary sarcomatoid carcinomas	7
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity	7
NTRK point mutations and their functional consequences	6
Cancer risk among RECQL4 heterozygotes	6
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions	6
Evolution of germline TP53 variant classification in children with cancer	6
The oncogenic roles of NTRK fusions and methods of molecular diagnosis	6
Association between XRCC3 Thr241Met polymorphism and risk of gynecological malignancies: A meta-analysis	6
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome	6
Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors	6
Microarray-based analysis of the BRAF V600 mutations in circulating tumor DNA in melanoma patients	6
Enhancement of MDM2 inhibitory effects through blocking nuclear export mechanisms in ovarian cancer cells	5
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients	5
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3’UTR of the MSH6 gene	5
Consensus molecular subtyping of colorectal cancers is influenced by goblet cell content	5
Multi-omics inference of differential breast cancer-related transcriptional regulatory network gene hubs between young Black and White patients	5
Over‐expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells	5
Genetic variants as biomarkers for progression and resistance in multiple myeloma	5
Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants	5
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey	5
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	5
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	5
Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers	5
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients	5
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	5
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma	5
A 10-gene-methylation-based signature for prognosis prediction of colorectal cancer	5
Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study	5
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment	4
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	4
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	4
The prognostic significance of FOXC2 gene expression in cancer: A comprehensive analysis of RNA-seq data from the cancer genome atlas	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
Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome	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
Cancer treatments: Past, present, and future	4
Identification and prevalence of potentially therapeutic targetable variants of major cancer driver genes in ampullary cancer patients in India through deep sequencing	4
Enumeration, characterisation and clinicopathological significance of circulating tumour cells in patients with colorectal carcinoma	4
Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma	4
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	4
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
Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23)	3
Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer	3
Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel	3
Determination of the key ccRCC-related molecules from monolayer network to three-layer network	3
Somatic tumor testing implications for Lynch syndrome germline genetic testing	3
Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability	3

Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours	3
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer	3
Somatic mutation variant analysis in rural, resectable non‐small cell lung carcinoma patients	3
Rare monosomy 7 and deletion 7p at diagnosis of chronic myeloid leukemia in accelerated phase	3
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture	3
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues	3
How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil	3
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies	3
A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers	3
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients	3
Identification of a novel resistance ALK p.(Q1188_L1190del) deletion in a patient with ALK-rearranged non–small-cell lung cancer	3
Novel high–risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53	3
The role of P62 in the development of human thyroid cancer and its possible mechanism	3
Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer	3
Clinical impact of 5ʹMYC or 3ʹMYC gain/loss detected by FISH in patients with aggressive B-cell lymphomas	3
NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives	3
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature	3
Neurotrophic tyrosine receptor kinase fusion in pediatric central nervous system tumors	3
TCGA dataset screening for genes implicated in endometrial cancer using RNA-seq profiling	3
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer	2
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	2
Novel MET exon 14 skipping analogs characterized in non-small cell lung cancer patients: A case study	2
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma	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
Interpretative differences of combined cytogenetic and molecular profiling highlights differences between MRC and ELN classifications of AML	2
Copy number alterations identify a smoking-associated expression signature predictive of poor outcome in head and neck squamous cell carcinoma	2
Gene expression-based immune infiltration analyses of liver cancer and their associations with survival outcomes	2
Impact of a haplotype (composed of the APC, KRAS, and TP53 genes) on colorectal adenocarcinoma differentiation and patient prognosis	2
Newly designed breakapart FISH probe helps to identify cases with true MECOM rearrangement in myeloid malignancies	2
A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib	2
Clinical management of TP53 mosaic variants found on germline genetic testing	2
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome	2
Longitudinal change of genetic variations in cetuximab-treated metastatic colorectal cancer	2
Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement	2
Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD	2
Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing	2
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	2
Association of the KRAS genotype and clinicopathologic findings of resected non‐small‐cell lung cancer: A pooled analysis of 179 patients	2
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas	2
Evidence-based review of genomic aberrations in diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS): Report from the cancer genomics consortium lymphoma working group	2
Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients	2
Somatic NF1 mutations in pituitary adenomas: Report of two cases	2
Prognostic impact of molecular profiles and molecular signatures in clear cell ovarian cancer	2
Identification of variant APL translocations PRKAR1A-RARα and ZBTB16-RARα (PLZF-RARα) through the MI-ONCOSEQ platform	2
Therapy-related acute myeloid leukemia with KMT2A-SNX9 gene fusion associated with a hyperdiploid karyotype after hemophagocytic lymphohistiocytosis	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
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis	2
Evaluation of chromosome 1p/19q deletion by Fluorescence in Situ Hybridization (FISH) as prognostic factors in malignant glioma patients on treatment with alkylating chemotherapy	2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	2
A novel case of intrachromosomal amplification and insertion of RUNX1 on derivative chromosome 2 in pediatric AML	2
LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway	2
Mitochondrial DNA polymorphisms and biogenesis genes in primary and metastatic uveal melanoma cell lines	2
Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions	2
Synchronous driver gene alterations (EGFR L858R, T790M, and ROS1) rearrangements in a patient with early-stage lung adenocarcinoma	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
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect	2
Effects of concurrent TP53 mutations on the efficacy and prognosis of targeted therapy for advanced EGFR mutant lung adenocarcinoma	2
Molecular subtyping and immune score system by a novel pyroptosis-based gene signature precisely predict immune infiltrating, survival and response to immune-checkpoint blockade in breast cancer	2
Ossifying low grade endometrial stromal sarcoma with PHF1-BRD8 fusion	2
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family	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
A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia	1
Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma	1
75. Clinical implementation of a precision medicine consultation service	1
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1	1
Philadelphia chromosome- positive myelodysplastic syndrome with single lineage dysplasia	1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	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
22. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): A retrospective study from Mayo Clinic	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
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes	1
Chimeric transcripts observed in non-canonical FGFR2 fusions with partner genes' breakpoint located in intergenic region in intrahepatic cholangiocarcinoma	1
88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakistan	1
Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: Disappearance of cytogenetic abnormalities	1
Upregulation of shelterin and CST genes and longer telomeres are associated with unfavorable prognostic characteristics in prostate cancer	1
Influence of germline test results on surgical decision making in women with invasive breast cancer	1
A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma	1
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies	1
When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives	1

72. Comprehensive genomic profiling in the diagnosis of Central Nervous System tumors	1
Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients	1
A pediatric BAL case with double Ph chromosomes and trisomy 5	1
64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog	1
Unfolded protein response signature unveils novel insights into breast cancer prognosis and tumor microenvironment	1
Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3)	1
Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAM	1
Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma	1
Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report	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
Extracellular genetic materials and their application in clinical practice	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
DNA repair and immune checkpoint blockade response	1
Multi-region sequencing reveals genetic correlation between esophageal squamous cell carcinoma and matched cell-free DNA	1
45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities	1
Evaluation of anti-angiogenic agent F16 for targeting glioblastoma xenograft tumors	1
Patient with multiple genetically distinct thyroid nodules including papillary thyroid carcinoma harboring novel YWHAG-BRAF fusion	1
33. Variability in sex and phenotype: Impact of a familial pathogenic DHX37 variant leading to 46,XY gonadal dysgenesis	1
7. Adoption of optical genome mapping in clinical cancer cytogenetic laboratory: A stepwise approach	1
Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis	1
121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma	1
t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review	1
CircMYBL1 suppressed acquired resistance to osimertinib in non-small-cell lung cancer	1
A variant e13a3 BCR-ABL1 fusion transcript in refractory adult B-cell acute lymphoblastic leukemia achieving complete remission with CAR-Tcell therapy	1
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	1
Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia	1
Differences in the mitochondrial microsatellite instability of Keratoacanthoma and cutaneous squamous cell carcinoma	1
High incidence of PI3K pathway gene mutations in South Indian cervical cancers	1
A founder CHEK2 pathogenic variant in association with kidney cancer	1
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	1
KMT2A-CBL fusion in rapidly progressive myeloid disorder	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
Construction of a genomic instability-derived predictive prognostic signature for non-small cell lung cancer patients	1
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma	1
Development of a molecular barcode detection system for pancreaticobiliary malignancies and comparison with next-generation sequencing	1
Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic abnormalities in Mantle Cell Lymphoma	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
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant	1
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma	1
14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level	1
Rapid FISH results within one hour	1
Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation	1
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes	1
80. Identification of a post-platinum NBN reversion in a pancreatic cancer patient with a co-occurring NTRK1 fusion	1
A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome	1