0000000000281176

AUTHOR

Camilla Schalin-jäntti

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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Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations

2021

Abstract Context Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors. Objective To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs. Design We investigated ATRX protein expression by us…

Male0301 basic medicineEndocrinology Diabetes and MetabolismClinical Biochemistrypituitary adenomapituitary carcinomaBiochemistryPATHWAYCohort Studies0302 clinical medicineEndocrinologyGene FrequencyTELOMERESCorticotrophsClinical Laboratory MedicineGenomicsMiddle AgedCushing’s diseaseEUROPEAN-SOCIETY3. Good healthEuropeKlinisk laboratoriemedicinACTH-Secreting Pituitary Adenoma030220 oncology & carcinogenesisDAXX/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCushing's diseaseFemaleATRX (alpha thalassemia/mental retardation syndrome X-linked); aggressive PitNETs; pituitary carcinoma; pituitary adenoma; Cushings diseaseAcademicSubjects/MED00250EXPRESSIONAdenomaAdultX-linked Nuclear Proteinmedicine.medical_specialtyGENESAdolescentATRX (alpha thalassemia/mental retardation syndrome X-linked)3122 CancersNonsense mutationContext (language use)CLASSIFICATIONYoung Adult03 medical and health sciencesDeath-associated protein 6SDG 3 - Good Health and Well-beingPituitary adenomaInternal medicineADENOMASmedicineHumansGenetic Predisposition to DiseaseNeoplasm InvasivenessPituitary NeoplasmsClinical Research ArticlesATRXAgedCancer och onkologiaggressive PitNETsbusiness.industryCarcinomaBiochemistry (medical)Pituitary tumorsCancerAMPLIFICATIONNeuroendocrinologymedicine.disease030104 developmental biologyEndocrinologyPituitary3121 General medicine internal medicine and other clinical medicineCancer and OncologyMutationPituitary carcinomaCancer researchbusinessATRX (alpha thalassemia/mental retardation syndrome X-linked); Cushing’s disease; aggressive PitNETs; pituitary adenoma; pituitary carcinoma
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