0000000000010524

AUTHOR

Judith Balmaña

showing 5 related works from this author

Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy

2018

Purpose This multicenter phase II trial evaluated lurbinectedin (PM01183), a selective inhibitor of active transcription of protein-coding genes, in patients with metastatic breast cancer. A unicenter translational substudy assessed potential mechanisms of lurbinectedin resistance. Patients and Methods Two arms were evaluated according to germline BRCA1/2 status: BRCA1/2 mutated (arm A; n = 54) and unselected ( BRCA1/2 wild-type or unknown status; arm B; n = 35). Lurbinectedin starting dose was a 7-mg flat dose and later, 3.5 mg/m2 in arm A. The primary end point was objective response rate (ORR) per Response Evaluation Criteria in Solid Tumors (RECIST). The translational substudy of resist…

Adult0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyGenes BRCA2Genes BRCA1Phases of clinical researchAntineoplastic AgentsBreast NeoplasmsHeterocyclic Compounds 4 or More RingsMice03 medical and health sciences0302 clinical medicineGermline mutationInternal medicineBiomarkers TumorClinical endpointAnimalsHumansMedicineProgression-free survivalGerm-Line MutationAgedDose-Response Relationship DrugErratabusiness.industryMiddle Agedmedicine.diseaseXenograft Model Antitumor AssaysMetastatic breast cancerProgression-Free SurvivalClinical trial030104 developmental biologyOncologyResponse Evaluation Criteria in Solid Tumors030220 oncology & carcinogenesisBiomarker (medicine)FemalebusinessCarbolinesJournal of Clinical Oncology
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Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.

2013

J. Balmana1, F. Balaguer2, A. Cervantes3 & D. Arnold4, on behalf of the ESMO Guidelines Working Group* Department of Medical Oncology, Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Universitat Autonoma de Barcelona, Barcelona; Department of Gastroenterology, Hospital Clinic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona; Department of Hematology and Medical Oncology, INCLIVA, University of Valencia, Valencia, Spain; Department of Medical Oncology, Tumor Biology Clinic, Albert Ludwigs University, Freiburg, Germany;

Riskmedicine.medical_specialtyColorectal cancerChemopreventionDNA Mismatch RepairDNA GlycosylasesNeoplastic Syndromes Hereditaryhealth services administrationMedicineHumansGenetic Predisposition to DiseaseGenetic TestingMultiple PolypsSigmoidoscopyEarly Detection of CancerAgedTumor biologybusiness.industryBrain NeoplasmsGeneral surgeryHematologyColonoscopyFamilial riskMiddle Agedmedicine.diseaseColorectal Neoplasms Hereditary NonpolyposishumanitiesClinical PracticeEuropeOncologyAdenomatous Polyposis Colipopulation characteristicsFemaleMicrosatellite InstabilitybusinessColorectal NeoplasmsColorectal Surgerygeographic locationsAnnals of oncology : official journal of the European Society for Medical Oncology
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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

2020

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…

0301 basic medicineOncologyCancer ResearchCancer cellsmedicine.disease_causeurologic and male genital diseases:Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma Renal Cell [DISEASES]<i>FH</i> gene0302 clinical medicineMalalties hereditàriesMissense mutationFH geneFH gene hereditary leiomyomatosis leiomyomas missense pathogenic variants renal cell cancerRenal cell cancerMutationKidney diseasesHereditary leiomyomatosis:Otros calificadores::Otros calificadores::/genética [Otros calificadores]:enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales [ENFERMEDADES]leiomyomasmissense pathogenic variants renal cell cancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensRare diseases:Geographic Locations::Europe::Spain [GEOGRAPHICALS]Oncology030220 oncology & carcinogenesisCohortCèl·lules cancerosesMalalties raresRenal Cell CancersGenetic disordersmedicine.medical_specialtyMissense pathogenic variantsBiología Celularlcsh:RC254-282Article03 medical and health sciencesLeiomyomasInternal medicine:Other subheadings::Other subheadings::/genetics [Other subheadings]medicineRonyons - Malalties - Espanya:localizaciones geográficas::Europa (continente)::España [DENOMINACIONES GEOGRÁFICAS]business.industry:neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis [ENFERMEDADES]Retrospective cohort studymedicine.diseaseGenética030104 developmental biologyFumaraseClinical diagnosisHereditary leiomyomatosis and renal cell cancer syndromeMalalties del ronyó:Neoplasms::Neoplasms by Histologic Type::Neoplasms Connective and Soft Tissue::Neoplasms Muscle Tissue::Leiomyoma::Leiomyomatosis [DISEASES]hereditary leiomyomatosisbusiness
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ESMO Consensus Guidelines for management of patients with colon and rectal cancer. A personalized approach to clinical decision making

2012

Contains fulltext : 111010pub.pdf (Publisher’s version ) (Closed access) Colorectal cancer (CRC) is the most common tumour type in both sexes combined in Western countries. Although screening programmes including the implementation of faecal occult blood test and colonoscopy might be able to reduce mortality by removing precursor lesions and by making diagnosis at an earlier stage, the burden of disease and mortality is still high. Improvement of diagnostic and treatment options increased staging accuracy, functional outcome for early stages as well as survival. Although high quality surgery is still the mainstay of curative treatment, the management of CRC must be a multi-modal approach pe…

Counselingmedicine.medical_specialtyColorectal cancerDecision MakingColonoscopyDiseaseQuality of life (healthcare)Translational research [ONCOL 3]medicineHumansStage (cooking)Precision MedicineIntensive care medicinePatient Care Teammedicine.diagnostic_testbusiness.industryHematologyGuidelinePrecision medicinemedicine.diseasePrognosisSurgeryOncologyPersonalized medicinebusinessColorectal Neoplasms
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Familial colorectal cancer risk: ESMO Clinical Practice Guidelines.

2010

OncologyRiskmedicine.medical_specialtyHeterozygoteColorectal cancermedicine.medical_treatmentColonoscopyAntineoplastic AgentsPenetranceGastroenterologyDNA Mismatch RepairInternal medicinemedicinePrevalenceHumansGenetic TestingRisk factorSigmoidoscopyColectomyColectomyGenetic testingRandomized Controlled Trials as Topicmedicine.diagnostic_testProctocolectomybusiness.industryIncidenceProctocolectomy RestorativeCancerSigmoidoscopyHematologyColonoscopymedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisCombined Modality TherapyEuropeOncologybusinessFollow-Up StudiesAnnals of oncology : official journal of the European Society for Medical Oncology
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