2025
Advancing the Evaluation and Management of CDH1-Associated Gastric Cancer.
Lerner B, Gupta S, Burke C, Kupfer S, Katona B, Grady W, Samadder J, Yurgelun M, Kelly K, Moreno Prats M, Joseph N, Idos G, Swanson B, Kieber-Emmons A, Weiss J, Llor X. Advancing the Evaluation and Management of CDH1-Associated Gastric Cancer. Journal Of The National Comprehensive Cancer Network 2025, 23 PMID: 40203872, DOI: 10.6004/jnccn.2025.7006.Peer-Reviewed Original ResearchConceptsSignet ring cell carcinomaPathogenic variant carriersGastric cancerEndoscopic surveillanceTotal gastrectomyVariant carriersGermline pathogenic variant carriersBenefits of gastrectomyCDH1 pathogenic variantsRisk of gastric cancerAdvanced gastric cancerProphylactic total gastrectomyPathogenic germline variantsFollow-up periodCumulative lifetime riskEvidence-based recommendationsUpper endoscopyCell carcinomaGlobal health concernDetected signet ring cell carcinomasGermline variantsPathogenic variantsGastrectomyGastrectomy specimensAdvanced cancer
2024
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort
Carriço J, Gonçalves C, Al-Naama A, Syed N, Aragüés J, Bastos M, Fonseca F, Borges T, Pereira B, Pignatelli D, Carvalho D, Cunha F, Saavedra A, Rodrigues E, Saraiva J, Ruas L, Vicente N, Martins J, De Sousa Lages A, Oliveira M, Castro-Correia C, Melo M, Martins R, Couto J, Moreno C, Martins D, Oliveira P, Martins T, Martins S, Marques O, Meireles C, Garrão A, Nogueira C, Baptista C, Gama-de-Sousa S, Amaral C, Martinho M, Limbert C, Barros L, Vieira I, Sabino T, Saraiva L, Lemos M. Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort. Human Reproduction Open 2024, 2024: hoae053. PMID: 39308770, PMCID: PMC11415827, DOI: 10.1093/hropen/hoae053.Peer-Reviewed Original ResearchCongenital hypogonadotropic hypogonadismPathogenic variantsGenetic causeRare sequence variantsCopy number variantsWhole-exome sequencingGenetically heterogeneous disorderPathogenic germline variantsGenetic architectureVariant interpretationOligogenic inheritanceSequence variantsGenetic screeningGenetic analysisPortuguese patientsNon-codingGenetic heterogeneityNovel variantsGermline variantsVUS variantsMutation spectrumAnalysed genesProportion of patientsGenesGenetic diagnosisPersistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene. JAMA Dermatology 2024, 160: 518-524. PMID: 38536168, PMCID: PMC10974685, DOI: 10.1001/jamadermatol.2024.0152.Peer-Reviewed Original ResearchConceptsSomatic variantsATP2A2 geneDeep sequencingResponse to environmental factorsCopy number variantsRestriction fragment length polymorphismLoss of heterozygosityWhole-exome sequencingChromosomal microarray analysisDarier's diseaseFragment length polymorphismPaired whole exome sequencingPathogenic germline variantsHeterozygous pathogenic germline variantsDD lesionsGenomic characteristicsGenetic analysisGenetic skin disordersGermline variantsSanger sequencingLength polymorphismSkin lesionsTransient lesionsHeterozygous variantsMicroarray analysis
2023
Pancreatic imaging findings from the PRECEDE study: A large high-risk heritable cohort for pancreatic cancer.
Haimi I, Zogopoulos G, Dettwyler S, Everett J, Bi Y, Brand R, Chung D, Farrell J, Grossberg A, Kastrinos F, Katona B, Klute K, Kupfer S, Lucas A, Paiella S, Parmigiani G, Permuth J, Sears R, Sussman D, Simeone D, Consortium P. Pancreatic imaging findings from the PRECEDE study: A large high-risk heritable cohort for pancreatic cancer. Journal Of Clinical Oncology 2023, 41: 689-689. DOI: 10.1200/jco.2023.41.4_suppl.689.Peer-Reviewed Original ResearchHigh-risk individualsPancreatic ductal adenocarcinomaPathogenic germline variantsFamilial pancreatic cancerCohort 1Worrisome featuresPancreatic cancerMain pancreatic duct diameterSolid massPancreatic duct diameterStandardized image acquisitionPGV groupGermline testingDuct stricturesIncurable stageMultiple cystsPancreatic abnormalitiesStandardized data collection systemNeuroendocrine tumorsDuctal adenocarcinomaCommon abnormalityFamily historyBenign lesionsLethal cancersPDAC risk
2022
The PRECEDE consortium: A longitudinal international cohort study of individuals with genetic risk or familial pancreatic cancer.
Zogopoulos G, Bi Y, Brand R, Chung D, Earl J, Farrell J, Graff J, Kastrinos F, Katona B, Klute K, Koptiuch C, Kupfer S, Kwon R, Lindberg J, Lowy A, Lucas A, Paiella S, Permuth J, Sears R, Simeone D, Consortium T. The PRECEDE consortium: A longitudinal international cohort study of individuals with genetic risk or familial pancreatic cancer. Journal Of Clinical Oncology 2022, 40: e16239-e16239. DOI: 10.1200/jco.2022.40.16_suppl.e16239.Peer-Reviewed Original ResearchPancreatic ductal adenocarcinomaPathogenic germline variantsFamilial pancreatic cancerCancer predisposition genesCohort studyPancreatic cancerClinical dataAnnual surveillanceEffective early detection strategiesHigh-quality clinical dataHigh-risk premalignant lesionsModifiers of riskInternational cohort studyProspective cohort studyEarly-stage diseaseOverall survival rateEarly detection strategiesEarly-stage cancerBlood sample collectionRelevant clinical populationContribution of heritabilityPenetrance of diseaseQuality clinical dataParticipants ages 18Germline testing
2021
Genomic Determinants of Homologous Recombination Deficiency across Human Cancers
Qing T, Wang X, Jun T, Ding L, Pusztai L, Huang K. Genomic Determinants of Homologous Recombination Deficiency across Human Cancers. Cancers 2021, 13: 4572. PMID: 34572800, PMCID: PMC8472123, DOI: 10.3390/cancers13184572.Peer-Reviewed Original ResearchHRD phenotypeCancer typesPARPi sensitivityPathogenic germline variantsHomologous recombination deficiencyFuture clinical studiesNumber deletionMultiple cancer typesSomatic driver mutationsLung cancerCopy number deletionPolymerase inhibitor treatmentProstate cancerBreast cancerClinical studiesTumor subsetsHRD scoreInhibitor treatmentSomatic genomic dataClinical biomarkersGermline variantsCancerRecombination deficiencyDriver mutationsSynthetic lethality strategyComparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome
Samadder N, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze K, Golafshar M, Uson P, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez E, Lizaola-Mayo B, Lehrer M, Thorpe C, Yu N, Esplin E, Nussbaum R, Sharp R, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce A, Bekaii-Saab T, Sekulic A, Stewart A. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncology 2021, 7: 230-237. PMID: 33126242, PMCID: PMC7600058, DOI: 10.1001/jamaoncol.2020.6252.Peer-Reviewed Original ResearchConceptsPrevalence of pathogenic germline variantsFamily variant testingPathogenic germline variantsSolid tumor cancersHigh-penetrance cancer susceptibility genesFamily history of cancerMayo Clinic Cancer CenterRisk-reducing interventionsUniversal genetic testingMultigene panel testingHigh-penetrance variantsHistory of cancerClinic Cancer CenterUniversal testing approachGermline variantsGuideline-directed approachYounger age of diagnosisTumor cancersCancer susceptibility genesClinically actionable findingsTargeted testingCancer screeningAge of diagnosisGermline testingVariant testing
2020
Germline cancer predisposition variants and pediatric glioma: a population-based study in California
Muskens IS, de Smith AJ, Zhang C, Hansen HM, Morimoto L, Metayer C, Ma X, Walsh KM, Wiemels JL. Germline cancer predisposition variants and pediatric glioma: a population-based study in California. Neuro-Oncology 2020, 22: 864-874. PMID: 31970404, PMCID: PMC7283023, DOI: 10.1093/neuonc/noaa014.Peer-Reviewed Original ResearchConceptsCancer predisposition genesPathogenic germline variantsPathogenic variantsGermline variantsNeurofibromatosis 1Pediatric astrocytomasCandidate cancer predisposition genesPredisposition genesGene burden testingPediatric glioblastomaPediatric cancer predispositionMalignant pediatric brain tumorTertiary referral centerPopulation-based studyPediatric brain tumorsCancer predisposition variantsPediatric glioma patientsRare germline variantsTumor protein 53Whole-exome sequencingExome-wide levelReferral centerAstrocytoma patientsGlioma patientsBrain tumors
2019
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma
Nassar A, Abou Alaiwi S, AlDubayan S, Moore N, Mouw K, Kwiatkowski D, Choueiri T, Curran C, Berchuck J, Harshman L, Nuzzo P, Chanza N, Van Allen E, Esplin E, Yang S, Callis T, Garber J, Rana H, Sonpavde G. Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genetics In Medicine 2019, 22: 709-718. PMID: 31844177, PMCID: PMC7118025, DOI: 10.1038/s41436-019-0720-x.Peer-Reviewed Original ResearchConceptsPathogenic germline variantsUrothelial carcinomaGermline variantsUC patientsPathogenic variantsCumulative frequency of patientsHigh-risk urothelial carcinomaGermline risk variantsHigh-risk UCCancer risk variantsFrequency of germlineDNA damage repair genesRepair genesRisk variantsFrequency of patientsVariant enrichmentCancer-free cohortCancer-free individualsUC risk genesClinically actionable variantsDNA repair genesPredisposition genesUC cohortGermline testingPatients
2016
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA
Schrader K, Cheng D, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman D, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. JAMA Oncology 2016, 2: 1-8. PMID: 26556299, PMCID: PMC5477989, DOI: 10.1001/jamaoncol.2015.5208.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorDNA Mutational AnalysisFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedModels, GeneticNeoplasmsNew York CityPhenotypePrecision MedicinePredictive Value of TestsPrognosisRisk AssessmentRisk FactorsConceptsTumor-normal sequencingPathogenic germline variantsGermline variantsAdvanced cancer diagnosisClinical tumor sequencingCancer susceptibility genesTumor sequencingMemorial Sloan Kettering Cancer CenterStudies of targeted agentsIndividual cancer typesTumor genetic sequencingGermline findingsProportion of individualsTumor-specific variantsMendelian disease genesTargetable genetic alterationsCancer susceptibilityMatched normal DNACancer diagnosisTargeted tumor sequencingSingle-gene disordersCancer CenterMSK-IMPACTTumor profilingSomatic alterations
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply