Genes Chromosomes & Cancer

Papers
(The median citation count of Genes Chromosomes & Cancer is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-08-01 to 2025-08-01.)
ArticleCitations
85
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes49
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations41
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Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion39
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein31
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?26
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior25
Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer24
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck23
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Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications18
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Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress18
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart17
Correction to “Temporal Trends and Regional Variability in BRAF and KRAS Genetic Testing in Denmark (2010–2022): Implications for Precision Medicine”17
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth17
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Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence16
Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF‐/MEK‐inhibitor treatment—A case report and review of the literature16
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Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report14
Aneurysmal bone cyst with an unusual clinical presentation and a novel VDRUSP6 fusion14
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Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine14
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion13
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant13
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma13
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature13
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Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation12
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VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features12
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement11
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study11
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping11
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Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features11
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma11
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance11
3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG111
Digital pathology systems enabling quality patient care11
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma11
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome10
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient10
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Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions10
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A Bibliometric Analysis on the Risk Factors of Cancer9
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion9
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors9
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature9
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A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis9
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall9
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti9
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Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications8
Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1SSX2 fusion identified by RNA‐based next‐generation sequencing8
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Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma8
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit8
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Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes8
Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity7
Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma7
Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation7
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma7
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases7
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration7
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene7
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum7
Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing7
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients7
Loss of smarcad1a accelerates tumorigenesis of malignant peripheral nerve sheath tumors in zebrafish7
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POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA27
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification7
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide7
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors6
How to use AI in pathology6
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors6
A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS‐NFATC1/2 fusions6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia6
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer6
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Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review6
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors6
RBM10‐TFE3 fusions: A FISH‐concealed anomaly in adult renal cell carcinomas displaying a variety of morphological and genomic features: Comprehensive study of six novel cases6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!6
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The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development6
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review6
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Alternative genetic alterations of MYC, BCL2, and/or BCL6 in high‐grade B‐cell lymphoma (HGBL) and diffuse large B‐cell lymphoma (DLBCL): Can we identify dif5
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Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia5
Sporadic Breast Angiosarcoma With MYC Amplification on Extrachromosomal Circular DNA Detected Using Nanopore Sequencing in an Adolescent Female5
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Malignant Peripheral Nerve Sheath Tumor (MPNST) With Smooth Muscle Differentiation of the Uterus—A Case Report With Emphasis on Diagnostic Pitfalls and Value of DNA Methylation A5
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Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort5
Complete mimicry: Rhabdomyosarcoma with FUS::TFCP2 fusion masquerading as carcinoma—diagnostic challenge and report of two cases5
Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas5
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome5
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor5
Cell Senescence and the Genetics of Melanoma Development5
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer5
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report5
Neuregulin 1 (NRG1) fusion‐positive high‐grade spindle cell sarcoma: A distinct group of soft tissue tumors with metastatic potential5
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing5
Soft‐tissue sarcoma with MN1‐BEND2 fusion: A case report and comparison with astroblastoma5
Gene fusions in gastrointestinal tract cancers5
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Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions5
GAB1::ABL1 fusions define a distinctive soft tissue neoplasm, with variable perineurial differentiation, and a predilection for children and young adults4
MYH9::LTK Fusion in a Pediatric Acral Soft Tissue Spindle Cell Neoplasm4
A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion4
N‐terminus DUX4‐immunohistochemistry is a reliable methodology for the diagnosis of DUX4fused B‐lymphoblastic leukemia/lymphoma (N‐terminus DUX4 IHC for DUX4<4
TFG::MET‐rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low‐grade triphasic morphology4
EWSR1 Rearrangements in Basaloid Neoplasms With Adnexal Differentiation4
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Correction to “EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature”4
The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non‐AML myeloid neoplasms4
Expanding the spectrum of GLI1‐altered mesenchymal tumors—A high‐grade uterine sarcoma harboring a novel PAMR1::GLI1 fusion and literature review of GLI1‐altered mesenchyma4
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS/RAF mutations4
A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia4
Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones4
Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis4
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Corrigendum4
Spindle cell neoplasms with novel LTK fusion – Expanding the spectrum of kinase fusion‐positive soft tissue tumors4
Low‐grade endometrial stromal sarcoma‐like tumors in male with JAZF1 gene fusions4
FGFR1 gene fusions in a subset of pediatric mesenchymal tumors: Expanding the genetic spectrum of tumors sharing histologic overlap with infantile fibrosarcoma and “NTRK<4
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I4
A case of spindle cell rhabdomyosarcoma with a ZFP64::NCOA3 fusion4
Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin‐Positive Giant Cell Tumor4
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Shallow whole‐genome sequencing of bone marrow aspirates in myelodysplastic neoplasms: A retrospective comparison with cytogenetics4
A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion3
Mismatch repair deficiency: The what, how and why it is important3
DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features3
Distinct Signatures of Chromosomal Involvement in 59 251 Translocations Across 58 Tumor Types. A Novel Perspective3
Development and validation of blood tumor mutational burden reference standards3
Erratum3
Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity3
Discovery of Cis‐Regulatory Mechanisms via Non‐Coding Mutations in Acute Lymphoblastic Leukemia3
FGFR2::TACC2 fusion as a novel KIT‐independent mechanism of targeted therapy failure in a multidrug‐resistant gastrointestinal stromal tumor3
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)3
Vanished MDM2 amplification in multiple recurrences of an irradiated poorly differentiated sarcoma with amplified TRIO::TERT fusion gene3
Assessing acute myeloid leukemia susceptibility in rearrangement‐driven patients by DNA breakage at topoisomerase II and CCCTC‐binding factor/cohesin binding sites3
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Single‐Cell Profiling of Mononuclear Cells Identifies Transcriptomics Signatures Differentiating Prostate Cancer From Benign Prostatic Hyperplasia3
Comprehensive analyses of microRNA and mRNA expression in colorectal serrated lesions and colorectal cancer with a microsatellite instability phenotype3
A novel STRN3::PRKD1 fusion in a cribriform adenocarcinoma of salivary gland with high‐grade transformation3
A novel colony‐stimulating factor 1 (CSF1) translocation  involving human endogenous retroviral element in a tenosynovial giant cell tumor3
Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies3
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?3
A Novel JAK2 Fusion in T‐Cell Prolymphocytic Leukemia3
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MicroRNA‐192‐5p inhibits migration of triple negative breast cancer cells and directly regulates RhoGTPaseactivating protein 193
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A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene3
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual3
Genomic profiling of pleomorphic rhabdomyosarcoma reveals a genomic signature distinct from that of embryonal rhabdomyosarcoma2
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17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas2
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Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes2
COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation2
Schwann Cells Deficient in Neurofibromin Lack Sensitivity to Their Biomechanical Microenvironment2
A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias2
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Translocation carcinomas of the kidney2
NR1D1::MAML1 epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy: A case report and review of the literature2
Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation2
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neoplasm2
An Inflammatory Myofibroblastic Tumor With a Novel ALKV1180L Mutation Leading to Acquired Resistance to Tyrosine Kinase Inhibitors2
When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion2
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Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors2
Molecular Classification of Resected Primary Duodenal Adenocarcinoma2
The novel finding of an FGFR1::TACC1 fusion in an undifferentiated spindle cell sarcoma of soft tissue with aggressive clinical course2
Primary mediastinal large B‐cell lymphoma is characterized by large‐scale copy‐neutral loss of heterozygosity2
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Sustained remission after ruxolitinib and chimeric antigen receptor T‐cell therapy bridged to a second allogeneic hematopoietic stem cell transplantation for relapsed Philadelphia chromosome‐like B‐ce2
Gene Expression Profiles of AHNAK2, DCSTAMP, FN1, and TERT Correlate With Mutational Status and Recurrence in Papillary Thyroid Carcinoma2
Methylation classifiers: Brain tumors, sarcomas, and what's next2
A novel HMGA2::KITLG fusion in a dedifferentiated liposarcoma with amplification of MDM2 and HMGA21
Pediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma1
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Related mechanisms, current treatments, and new perspectives in meningioma1
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion1
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High‐Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion1
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel1
Clinicopathological features and resistance mechanisms in HIP1‐ALK‐rearranged lung cancer: A multicenter study1
Standardizing analysis of intra‐tumoral heterogeneity with computational pathology1
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Constitutional and acquired genetic variants in ARID5B in pediatric B‐cell precursor acute lymphoblastic leukemia1
Rethinking cancer initiation: The role of large‐scale mutational events1
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Pediatric Mesenchymal Tumor With MN1::TAF3 Fusion1
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Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis1
YAP1::KMT2A‐Rearranged Sarcoma: Report of a New Case With Unusual Morphology and Immunohistochemical Features1
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Gastrointestinal stromal tumors withBRAFgene fusions. A report of two cases showing low or absentKITexpression resulting in diagnostic pitfalls1
An intraosseous myoepithelial carcinoma with a EWSR1::PBX3 fusion1
Clonal origin and genomic diversity in Lynch syndrome‐associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H1
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic1
Profiling Precursor microRNAs of Breast Cancer From Total RNA Sequencing Data to Gain Insights Into Their Roles and Prognostic Values1
Clinicopathologic and molecular correlates to neoadjuvant chemotherapy‐induced pathologic response in breast angiosarcoma1
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients1
Challenging Conventional Perceptions of Oncogenes and Tumor Suppressor Genes: A Comprehensive Analysis of Gene Expression Patterns in Cancer1
The Transcriptomic and Gene Fusion Landscape of Pleomorphic Salivary Gland Adenomas1
Comparative DNA Methylation Profiling of Human and Murine ALK‐Positive B‐Cell Neoplasms1
Transcriptomic profiles‐based approach to decode the role of miR‐122 in triple negative breast cancer1
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