2020
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma
AlDubayan S, Conway J, Camp S, Witkowski L, Kofman E, Reardon B, Han S, Moore N, Elmarakeby H, Salari K, Choudhry H, Al-Rubaish A, Al-Sulaiman A, Al-Ali A, Taylor-Weiner A, Van Allen E. Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma. JAMA 2020, 324: 1957-1969. PMID: 33201204, PMCID: PMC7672519, DOI: 10.1001/jama.2020.20457.Peer-Reviewed Original ResearchMeSH KeywordsCross-Sectional StudiesDeep LearningDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansMaleMelanomaMiddle AgedNeural Networks, ComputerPredictive Value of TestsProstatic NeoplasmsSensitivity and SpecificityConceptsAmerican College of Medical Genetics and GenomicsGermline genetic testingCancer predisposition genesDetection of pathogenic variantsVariant detection performanceACMG genesNegative predictive valuePositive predictive valuePathogenic variantsGenetic testingProstate cancer cohortCriterion reference standardVariant detectionMendelian genesProstate cancerCancer cohortGermline pathogenic variantsCross-sectional studyGenetic testing methodsGermline variant detectionMelanoma cohortPathogenic germline alterationsMain OutcomesConvenience cohortClinical data collectionResults of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future (MLOF) Hemophilia Genotyping Initiative
Johnsen J, Fletcher S, Dove A, McCracken H, Martin B, Kircher M, Josephson N, Shendure J, Ruuska S, Valentino L, Pierce G, Watson C, Cheng D, Recht M, Konkle B. Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future (MLOF) Hemophilia Genotyping Initiative. Blood 2020, 136: 19. DOI: 10.1182/blood-2020-140649.Peer-Reviewed Original ResearchHemophilia treatment centersEntity's Board of DirectorsNational Hemophilia FoundationHemophilia ASevere HABleeding disordersClinical resultsHemophilia B (HBNon-severe HAX-linked bleeding disorderIntron 22 inversionIntron 1 inversionB (HBHigh-risk genotypesNon-severe diseaseSevere hemophilia BStop-gainWorld Federation of HemophiliaSevere HBInhibitor riskAdvisory CommitteeNeonatal managementClinical data collectionHB patientsSevere haemophiliaSensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer
Parsons HA, Rhoades J, Reed SC, Gydush G, Ram P, Exman P, Xiong K, Lo CC, Li T, Fleharty M, Kirkner GJ, Rotem D, Cohen O, Yu F, Fitarelli-Kiehl M, Leong KW, Hughes ME, Rosenberg SM, Collins LC, Miller KD, Blumenstiel B, Trippa L, Cibulskis C, Neuberg DS, DeFelice M, Freeman SS, Lennon NJ, Wagle N, Ha G, Stover DG, Choudhury AD, Getz G, Winer EP, Meyerson M, Lin NU, Krop I, Love JC, Makrigiorgos GM, Partridge AH, Mayer EL, Golub TR, Adalsteinsson VA. Sensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer. Clinical Cancer Research 2020, 26: 2556-2564. PMID: 32170028, PMCID: PMC7654718, DOI: 10.1158/1078-0432.ccr-19-3005.Peer-Reviewed Original ResearchConceptsMinimal residual diseaseMetastatic breast cancerDigital droplet PCRBreast cancerTumor mutationsResidual diseaseMRD detectionEarly-stage breast cancerCurative-intent treatmentCohort of patientsEarly-stage diseaseMedian lead timeClinical data collectionWhole-exome sequencingMRD testFirst positive sampleDistant recurrenceMost patientsMetastatic diagnosisStage 0PatientsPlasma samplingClinical sensitivityPatient-specific mutationsCfDNA samples
2006
E-cadherin Immunohistochemical Expression as a Prognostic Factor in Infiltrating Ductal Carcinoma of the Breast: a Systematic Review and Meta-Analysis
Gould Rothberg BE, Bracken MB. E-cadherin Immunohistochemical Expression as a Prognostic Factor in Infiltrating Ductal Carcinoma of the Breast: a Systematic Review and Meta-Analysis. Breast Cancer Research And Treatment 2006, 100: 139-148. PMID: 16791476, DOI: 10.1007/s10549-006-9248-2.Peer-Reviewed Original ResearchConceptsDuctal breast carcinomaBreast cancer-specific mortalityCancer-specific mortalityE-cadherin expressionCause mortalityBreast carcinomaCohort studyPrognostic markerImmunohistochemical expressionSystematic reviewSubstantial inter-study heterogeneityIndependent negative prognostic indicatorRetrospective cohort studyPrimary study outcomeSummary hazard ratioNegative prognostic indicatorInter-study heterogeneityRandom-effects modelClinical data collectionAbsent E-cadherin expressionNon-significant associationCadherin immunohistochemical expressionHazard ratioPrognostic factorsDuctal carcinoma
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