Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C
Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.
Ammous-Boukhris N et al.
Bmc Cancer, 2025
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
Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.
Eberth S et al.
Bmc Research Notes, 2025
39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
39876053 (PubMed )
Supplement: supplement_1.pdf
Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.
Li Q et al.
Pediatric Neurology, 2025
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_1
NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.
Verzè M et al.
The Journal of Liquid Biopsy, 2024
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
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf
Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.
Pommerenke C et al.
Cells, 2024
38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations
ATM-deficient murine thymic T-cell lymphoblastic lymphomas are PTEN-deficient and require AKT signaling for survival.
An JB et al.
Plos One, 2024
Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother.
Guevara-Ramírez P et al.
Frontiers in Medicine, 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
Molecular profiling of pre- and post-treatment pediatric high-grade astrocytomas reveals acquired increased tumor mutation burden in a subset of recurrences.
Wood MD et al.
Acta Neuropathologica Communications, 2023
37670377 (PubMed )
Supplement: 40478_2023_1644_MOESM4_ESM.xlsx › Sheet1
Variant allele frequency changes in TP53 predict pembrolizumab response in patients with metastatic urothelial carcinoma.
Hamada K et al.
Oncology Letters, 2023
37559592 (PubMed )
Supplement: Supplementary_Data2.xlsx › Sheet1
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M et al.
Breast Cancer Research : Bcr, 2023
37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 2023
36831507 (PubMed )
Supplement: cancers-15-01160-s001.zip › TableS7.xlsx › Sheet1
Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.
Ghezelayagh TS et al.
Cancer Research Communications, 2022
36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations
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
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1
GATA3 and MDM2 are synthetic lethal in estrogen receptor-positive breast cancers.
Bianco G et al.
Communications Biology, 2022
35440675 (PubMed )
Supplement: 42003_2022_3296_MOESM4_ESM.xlsx › S1
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1
Application of liquid biopsy-based targeted capture sequencing analysis to improve the precision treatment of non-small cell lung cancer by tyrosine kinase inhibitors.
Zhang L et al.
Bmj Open Respiratory Research, 2022
Identification and clinical significance of somatic oncogenic mutations in epithelial ovarian cancer.
Watanabe T et al.
Journal of Ovarian Research, 2021
34615547 (PubMed )
Supplement: 13048_2021_876_MOESM1_ESM.xlsx › Sheet1
Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
Gong Y et al.
International Journal of Molecular Sciences, 2021
34445631 (PubMed )
Supplement: ijms-22-08924-s001.zip › Table_S1.pdf
Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.
Lim Y et al.
Scientific Reports, 2021
34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM5_ESM.xlsx › Suppl._Table_4
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants
Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.
Verma S et al.
Bmc Cancer, 2020
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.
Akahane T et al.
Bmc Medical Genomics, 2020
32652986 (PubMed )
Supplement: 12920_2020_753_MOESM2_ESM.xlsx › Sheet1
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
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
31721781 (PubMed )
Supplement: pone.0221288.s012.xlsx › Sheet_1
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2
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
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
Candidate synthetic lethality partners to PARP inhibitors in the treatment of ovarian clear cell cancer.
Kawahara N et al.
Biomedical Reports, 2017
Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P et al.
Blood Cancer Journal, 2017
28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts
Mismatch repair deficiency may be common in ductal adenocarcinoma of the prostate.
Schweizer MT et al.
Oncotarget, 2016
A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.
Cheng HH et al.
The Prostate, 2016
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
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
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
Pennington KP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Predicting everolimus treatment efficacy in patients with advanced endometrial carcinoma: a GINECO group study.
Trédan O et al.
Targeted Oncology, 2013
Loss of PTEN expression is an independent predictor of favourable survival in endometrial carcinomas.
Akiyama-Abe A et al.
British Journal of Cancer, 2013
Phosphatase and tensin homolog (PTEN) pseudogene expression in endometrial cancer: a conserved regulatory mechanism important in tumorigenesis?
Ioffe YJ et al.
Gynecologic Oncology, 2012
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury AR et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
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