0000000000549718

AUTHOR

Caterina Mian

showing 2 related works from this author

Differential Clinicopathological Risk and Prognosis of Major Papillary Thyroid Cancer Variants

2015

et al.

Maleendocrine system diseasesEndocrinology Diabetes and MetabolismClinical BiochemistryPapillaryAdult; Carcinoma; Carcinoma Papillary; Cohort Studies; Female; Follow-Up Studies; Gene Frequency; Humans; Male; Middle Aged; Neoplasm Metastasis; Prevalence; Prognosis; Radiotherapy; Retrospective Studies; Risk Assessment; Thyroid Cancer Papillary; Thyroid Neoplasms; Neoplasm Recurrence LocalThyroid CancerBiochemistryPapillary thyroid cancerCohort StudiesThyroid carcinoma Papillary Thyroid Carcinoma Variants Prognosis0302 clinical medicineEndocrinologyGene FrequencyInterquartile rangePrevalenceNeoplasm MetastasisMiddle AgedPrognosisDiabetes and MetabolismLocalThyroid Cancer Papillary030220 oncology & carcinogenesisFemaleCohort studyAdultmedicine.medical_specialtyBiochemistry; Clinical Biochemistry; Endocrinology; Biochemistry (medical); Endocrinology Diabetes and Metabolism030209 endocrinology & metabolismContext (language use)Risk AssessmentThyroid carcinoma03 medical and health sciencesInternal medicinemedicineCarcinomaHumansThyroid NeoplasmsRetrospective StudiesRadiotherapybusiness.industryBiochemistry (medical)CarcinomaCancerRetrospective cohort studyOriginal Articlesmedicine.diseaseCarcinoma PapillaryEndocrinologyNeoplasm RecurrenceNeoplasm Recurrence LocalbusinessFollow-Up Studies
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Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10

2010

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for clinical-risk profiles. Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were studied. A total of 340 subjects from 103 families, age 4-86, were registered. There were 21 distinct single nucleotide germline mutations located in codons 609 (45 subjects), 611 (50), 618 (94), and 620 (151). MTC was present…

MalePHEOCHROMOCYTOMAendocrine system diseasesMEDULLARY-THYROID CARCINOMAAdrenal Gland NeoplasmsMultiple Endocrine Neoplasia Type 2aPenetrancemedicine.disease_causePHENOTYPEGermlineExon0302 clinical medicinemedullary thyroid carcinomaMEN2BMEN2AChildGenetics (clinical)GeneticsAged 80 and overMutationHyperparathyroidismLife SciencesExonsMiddle AgedCARRIERSPenetranceCANCERPROPHYLACTIC THYROIDECTOMY3. Good healthgenotype-phenotypeFAMILYMEN2030220 oncology & carcinogenesisChild PreschoolFemaleAdultAdolescent030209 endocrinology & metabolismMultiple endocrine neoplasia type 2BiologyPheochromocytoma03 medical and health sciencesYoung AdultGermline mutationGeneticsmedicineHumansThyroid NeoplasmsCodonGerm-Line MutationAgedNeoplasm StagingProto-Oncogene Proteins c-retCancerHIRSCHSPRUNG-DISEASEPROTOONCOGENEmedicine.diseaseGENECarcinoma NeuroendocrineCancer researchRETHuman Mutation
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