Associated Papers
Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways.
Taniguchi-Ponciano K et al.
Acta Neuropathologica Communications, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15
Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover.
Duan S et al.
Cancer Research Communications, 2023
Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.
Dreijerink KMA et al.
Epigenetics & Chromatin, 2022
35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations
Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.
Nelakurti DD et al.
Cancers, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final
Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.
Li X et al.
Medicine, 2020
32000458 (PubMed )
Supplement: medi-99-e19076-s001.xlsx › Supp_Table1._Germline_mutations
Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 Phenotype.
DE Melo FM et al.
Anticancer Research, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
30286143 (PubMed )
Supplement: pone.0205022.s007.xlsx › Sheet1
Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.
Kim BY et al.
Bmc Medical Genetics, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
Alterations of MEN1 and E-cadherin/β-catenin complex in sporadic pulmonary carcinoids.
Veschi S et al.
International Journal of Oncology, 2012
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