0000000000281189

AUTHOR

Erika Gucciardo

0000-0003-4481-8798

showing 2 related works from this author

WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas

2021

Abstract Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization…

AdenomaAcademicSubjects/SCI01140DOMAINSadenokarsinoomaCANCER-RISKIn situ hybridizationsuolistosyövätAdenocarcinomaBiologyNeuroendocrine tumorsGermlineWnt2 Proteinperinnöllinen alttius03 medical and health sciences0302 clinical medicineWNT2GeneticsGenetic predispositionmedicineHumansIntestinal MucosaMUTATIONMolecular BiologyGenetics (clinical)030304 developmental biologypaksusuolisyöpäCARCINOID-TUMORS0303 health sciencesperinnölliset tauditCYSTIC-FIBROSISGeneral MedicineNATIONWIDEmedicine.diseaseIntestinal epithelium3. Good healthGENOMENeuroendocrine TumorsHyperplastic PolypSingle cell sequencing3121 General medicine internal medicine and other clinical medicine030220 oncology & carcinogenesisMAPCancer researchsyöpätaudit3111 BiomedicineGeneral Articlegeneettiset tekijätColorectal Neoplasms
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PROX1 transcription factor controls rhabdomyosarcoma growth, stemness, myogenic properties and therapeutic targets

2022

Funding Information: ACKNOWLEDGMENTS. We would like to thank Dr. Tuomas Tammela and Dr. Monika Ehnmann for providing RMS cell lines and Dr. Jenny Högström for discussions and comments during the project. Kirsi Mattinen, Jefim Brodkin, Maxime Laird, Manon Gruchet, Ilse Paetau, Tanja Laakkonen, and Tapio Tainola are acknowledged for their excellent technical help. We also thank the Laboratory Animal Center at the University of Helsinki for expert animal care, the Biomedicum Imaging Unit for microscope support, the Biomedicum Functional Genomics Unit for the RNAseq experiments and the FIMM Technology Centre High Throughput Biomedicine for the drug sensitivity and resistance testing. Our first …

MultidisciplinarysarcomaFGFRPROX13122 CancersGenes HomeoboxReceptors Fibroblast Growth FactorsarkoomaGene Expression RegulationRhabdomyosarcomaHumanscancersyöpätauditmyogenesis3111 BiomedicineChildTranscriptomeProtein Kinase InhibitorsTranscription Factors
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