Associated Papers
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 2026
41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9
MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.
Friker LL et al.
Acta Neuropathologica, 2025
39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review.
Zhu B et al.
Frontiers in Oncology, 2024
Genomic profiling of ovarian clear cell carcinoma in Chinese patients reveals potential prognostic biomarkers for survival.
Ye S et al.
Annals of Medicine, 2023
37272300 (PubMed )
Supplement: IANN_A_2218104_SM2772.xlsx › mutation
SB202190 Predicts BRAF-Activating Mutations in Primary Colorectal Cancer Organoids via Erk1-2 Modulation.
Costa D et al.
Cells, 2023
36831331 (PubMed )
Supplement: cells-12-00664-s001.zip › Table_S2__Cells_.xlsx › Suppl_Table2
Unexplained mismatch repair deficiency: Case closed.
Eikenboom EL et al.
Hgg Advances, 2023
36624813 (PubMed )
Supplement: mmc1.pdf
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN
NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.
Wang H et al.
Cancer Medicine, 2022
35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.
Villafranca-Magdalena B et al.
International Journal of Molecular Sciences, 2022
35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2
Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.
Liu H et al.
Frontiers in Oncology, 2021
35096598 (PubMed )
Supplement: Table_2.xlsx › HRR_mutation_with_III
Squamous cell transformation as a mechanism of acquired resistance to tyrosine kinase inhibitor in EGFR-mutated lung adenocarcinoma: a report of two cases.
Uruga H et al.
Respirology Case Reports, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.
Peng M et al.
Journal of Medical Genetics, 2019
30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1
CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.
Manic G et al.
Gut, 2018
28389531 (PubMed )
Supplement: gutjnl-2016-312623supp002.pdf
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.
Alvi MA et al.
British Journal of Cancer, 2017
28595259 (PubMed )
Supplement: bjc2017168x11.xlsx › Supplementary_table_4
Molecular Pathology of Anaplastic Thyroid Carcinomas: A Retrospective Study of 144 Cases.
Bonhomme B et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
28351340 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0254.pdf
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A et al.
Plos Medicine, 2017
28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Non-Small_Cell_Lung_Carcinoma
Preclinical evaluation of the PARP inhibitor BMN-673 for the treatment of ovarian clear cell cancer.
Wilkerson PM et al.
Oncotarget, 2017
Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.
Roberti A et al.
Nature Communications, 2016
27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2
Integrated digital error suppression for improved detection of circulating tumor DNA.
Newman AM et al.
Nature Biotechnology, 2016
27018799 (PubMed )
Supplement: NIHMS764326-supplement-6.xlsx › SuppTable4_hotspot_variants
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.
Pagan M et al.
Bmc Bioinformatics, 2016
26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1
Mutational profiling of colorectal cancers with microsatellite instability.
Lin EI et al.
Oncotarget, 2015
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 2015
26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1
Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.
Salo-Mullen EE et al.
Familial Cancer, 2014
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Kim S et al.
Plos One, 2014
25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat
PTEN mosaicism with features of Cowden syndrome.
Gammon A et al.
Clinical Genetics, 2013
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Heald B et al.
Gastroenterology, 2010
Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.
Danielsen SA et al.
Human Mutation, 2008
Synchronous endometrioid carcinomas of the uterine corpus and ovary: alterations in the beta-catenin (CTNNB1) pathway are associated with independent primary tumors and favorable prognosis.
Irving JA et al.
Human Pathology, 2005
Molecular genetic alterations in endometrioid carcinomas of the ovary: similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomas.
Catasús L et al.
Human Pathology, 2004
PTEN/MMAC1/TEP1 mutations in human primary renal-cell carcinomas and renal carcinoma cell lines.
Kondo K et al.
International Journal of Cancer, 2001
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