0000000000614284

AUTHOR

Stuppia L.

showing 2 related works from this author

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

2007

Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…

AdultMaleOncologyProbandcongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyendocrine system diseasesBreast NeoplasmsGermlineBreast Neoplasms MaleGermline mutationBreast cancerRisk FactorsInternal medicinePrevalenceHumansMedicineGenetic Predisposition to DiseaseMultiplexMultiplex ligation-dependent probe amplificationskin and connective tissue diseasesAgedSequence DeletionOvarian NeoplasmsGeneticsBRCA1 Proteinbusiness.industryGenetic Carrier ScreeningProstatic NeoplasmsHematologyMiddle Agedmedicine.diseaseBRCA1 BRCA2 BRCAPro breast cancer MLPA ovarian cancerPedigreeOncologyMutation (genetic algorithm)FemalebusinessOvarian cancerSoftware
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Characteristics of SARS-CoV-2 variants of concern B.1.1.7, B.1.351 or P.1: data from seven EU/EEA countries, weeks 38/2020 to 10/2021

2021

COVID study groups - PORTUGAL: Portuguese Laboratory Network for the Diagnosis of COVID-19 and Public Health Department of the Health Administrative Regions, Physicians that provided data and samples from suspected cases and SARS-CoV-2 genetic characterization. INSA laboratory team for the diagnosis of SARS-CoV-2. Algarve Biomedical Center and Unilabs. We compared 19,207 cases of SARS-CoV-2 variant B.1.1.7/S gene target failure (SGTF), 436 B.1.351 and 352 P.1 to non-variant cases reported by seven European countries. COVID-19 cases with these variants had significantly higher adjusted odds ratios for hospitalisation (B.1.1.7/SGTF: 1.7, 95% confidence interval (CI): 1.0-2.9; B.1.351: 3.6, 95…

Infecções Respiratórias2019-20 coronavirus outbreakmedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)Critical CareEpidemiologySevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)variants of concernSettore MED/42 - Igiene Generale E Applicata03 medical and health sciences0302 clinical medicineVirologyInternal medicineMedicineHumansIntensive care admission030212 general & internal medicineCOVID-19; Europe; SARS-CoV-2; surveillance; variants of concern; Critical Care; Europe; Humans; COVID-19; SARS-CoV-2Surveillancebusiness.industrySARS-CoV-2030503 health policy & servicesPublic Health Environmental and Occupational HealthCOVID-19Odds ratioConfidence intervalEuropesurveillanceVariants of ConcernCOVID-19 Europe SARS-CoV-2 surveillance variants of concern0305 other medical sciencebusinessRapid CommunicationHuman
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