Search results for "WNT2"

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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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