2024
Practice Patterns and Trends in the Surgical Management of Mismatch Repair Deficient Colon Cancer
Gupta P, Zhan P, Leeds I, Mongiu A, Reddy V, Pantel H. Practice Patterns and Trends in the Surgical Management of Mismatch Repair Deficient Colon Cancer. Journal Of Surgical Research 2024, 304: 371-382. PMID: 39615154, DOI: 10.1016/j.jss.2024.10.041.Peer-Reviewed Original ResearchLynch syndromePractice patternsCancers associated with Lynch syndromeColorectal cancerColon cancerNonmetastatic colorectal cancerDiagnosed CRC patientsMismatch repairDetect mismatch repairSurgical managementMMR-DMMR testingCRC patientsSurgical practice patternsAssociated with decreased ratesBlack raceRate of extended resectionDNA mismatch repairMismatch repair-proficient tumorsNational Cancer DatabaseNonmetastatic CRC patientsColon cancer patientsGermline mutationsCancer patientsTreatment decisionsSomatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Maury E, Jones A, Seplyarskiy V, Nguyen T, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Network B, Park P, Akbarian S, Brennand K, Reilly S, Lee E, Sunyaev S, Walsh C, Chess A. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science 2024, 386: 217-224. PMID: 39388546, PMCID: PMC11490355, DOI: 10.1126/science.adq1456.Peer-Reviewed Original ResearchConceptsTranscription factor binding sitesWhole-genome sequencingOpen chromatinMutational processesSomatic mutationsFactor binding sitesSchizophrenia casesSchizophrenia risk genesSomatic mosaicismSomatic variantsRisk genesG mutationGene expressionGermline mutationsBinding sitesGenesMutationsIncreased somatic mutationsChromatinMosaic somatic mutationsPrenatal neurogenesisContext of schizophreniaBrain neuronsSchizophrenia brainVariantsHormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2
Phillips K, Kotsopoulos J, Domchek S, Terry M, Chamberlain J, Bassett J, Aeilts A, Andrulis I, Buys S, Cui W, Daly M, Eisen A, Foulkes W, Friedlander M, Gronwald J, Hopper J, John E, Karlan B, Kim R, Kurian A, Lubinski J, Metcalfe K, Nathanson K, Singer C, Southey M, Symecko H, Tung N, Narod S, Milne R, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study T, Study T, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Bodek S, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Cao M, Chakrabarti A, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Courtney E, Cummings M, Dawson S, DeFazio A, Delatycki M, Dickson R, Dixon J, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Harraka P, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lee J, Li S, Lindeman G, Lippey J, Lipton L, Lobb L, Loi S, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega D, Pachter N, Pang J, Pathak G, Patterson B, Pearn A, Phillips K, Pieper E, Ramus S, Rickard E, Ragunathan A, Robinson B, Saleh M, Skandarajah A, Salisbury E, Saunders C, Saunus J, Savas P, Scott R, Scott C, Sexton A, Shaw J, Shelling A, Srinivasa S, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young M, Zaheed M. Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2. Journal Of Clinical Oncology 2024, 43: 422-431. PMID: 39356978, PMCID: PMC11771360, DOI: 10.1200/jco.24.00176.Peer-Reviewed Original ResearchAssociated with increased BC riskBC riskHormonal contraceptionMutation carriersBreast cancerAssociated with BC riskCarriers of germline mutationsBreast cancer riskMedian follow-upAssociated with increased riskIncreased breast cancerHormonal contraceptive useProspective cohort studyGermline mutationsFollow-upCohort studyCox regressionCancer riskContraceptive useContraceptionCumulative durationMutationsRiskProportional increaseYearsLi-Fraumeni Syndrome: Imaging Features and Guidelines.
Gosangi B, Dixe de Oliveira Santo I, Keraliya A, Wang Y, Irugu D, Thomas R, Khandelwal A, Rubinowitz A, Bader A. Li-Fraumeni Syndrome: Imaging Features and Guidelines. RadioGraphics 2024, 44: e230202. PMID: 39024172, DOI: 10.1148/rg.230202.Peer-Reviewed Original ResearchConceptsLi-Fraumeni syndromeLifetime risk of cancerRare autosomal dominant familial cancer syndromeIncreased riskRisk of cancerTreated with total mastectomyAutosomal dominant familial cancer syndromeImaging features of tumorsFamilial cancer syndromeWhole-body MRIAnnual screeningFeatures of tumorsCancer syndromesLifetime riskP53 transcription factorLi-FraumeniAdrenocortical cancerTotal mastectomyPrimary cancerBreast malignancyImaging guidelinesBreast cancerGermline mutationsColon cancerManagement guidelines
2023
Mesothelioma in situ of the peritoneum: report of three cases and review of the literature
Symes E, Tjota M, Cody B, Kindler H, Mitchell O, Witmer H, Turaga K, Mueller J, Krausz T, Husain A, Li H. Mesothelioma in situ of the peritoneum: report of three cases and review of the literature. Histopathology 2023, 84: 492-506. PMID: 38084880, DOI: 10.1111/his.15092.Peer-Reviewed Original ResearchConceptsBRCA-1 associated protein-1Mesothelioma in situDiagnosis of mesothelioma in situNext-generation sequencingGermline mutationsMethylthioadenosine phosphorylaseRare precursor lesionsResults of ancillary testsThoracic pathologistsInvasive tumorsInvasive mesotheliomaClinicopathological characteristicsPrecursor lesionsHistological featuresLayer of mesothelial cellsPathogenic alterationsAncillary studiesMesothelial cellsAncillary testsMultidisciplinary inputPatientsProtein 1Microscopic evaluationMonths postdiagnosisCase 1Cytomorphologic, immunophenotypical and molecular features of pancreatic acinar cell carcinoma
Sun T, Gilani S, Jain D, Cai G. Cytomorphologic, immunophenotypical and molecular features of pancreatic acinar cell carcinoma. Diagnostic Cytopathology 2023, 51: 674-683. PMID: 37469257, DOI: 10.1002/dc.25196.Peer-Reviewed Original ResearchConceptsPancreatic acinar cell carcinomaPancreatic ductal carcinomaAcinar cell carcinomaCell carcinomaMixed acinar-ductal carcinomaMixed acinar-neuroendocrine carcinomaMolecular featuresComprehensive molecular profilingDifferent molecular alterationsDistinct molecular featuresImmunophenotypical featuresNeuroendocrine featuresDuctal carcinomaRare tumorCCDC6-RETCytohistological correlationKi-67Large cohortCytologic diagnosisBiomarker assessmentCytology featuresCytology specimensCarcinomaMolecular alterationsGermline mutationsThe SNP rs755622 is associated with immune activation in glioblastoma
Alban T, Grabowski M, Otvos B, Bayik D, Wang W, Zalavadia A, Makarav V, Troike K, McGraw M, Rabljenovic A, Lauko A, Neumann C, Roversi G, Waite K, Cioffi G, Patil N, Tran T, McCortney K, Steffens A, Diaz-Montero C, Brown J, Egan K, Horbinski C, Barnholtz-Sloan J, Rajappa P, Vogelbaum M, Bucala R, Chan T, Ahluwalia M, Lathia J. The SNP rs755622 is associated with immune activation in glioblastoma. JCI Insight 2023, 8: e160024. PMID: 37252795, PMCID: PMC10371339, DOI: 10.1172/jci.insight.160024.Peer-Reviewed Original ResearchConceptsMacrophage migration inhibitory factorImmune activationCytokine macrophage migration inhibitory factorMigration inhibitory factorLactotransferrin (LTF) expressionLeukocyte infiltrationHallmark of glioblastomaImmune microenvironmentTreatment responseRs755622Inhibitory factorDrug resistanceGermline mutationsIntratumoral heterogeneityTumoral microenvironmentGermline SNPsGlioblastomaSurgical phenotype of patients with peritoneal mesothelioma and a germline mutation
Berger Y, Gadiraju M, Dhiman A, Gilliam K, Opalecky B, Chen H, Helgeson M, Eng O, Husain A, Drazer M, Kindler H, Churpek J, Turaga K. Surgical phenotype of patients with peritoneal mesothelioma and a germline mutation. Cancer 2023, 129: 2152-2160. PMID: 37042570, DOI: 10.1002/cncr.34763.Peer-Reviewed Original ResearchConceptsBRCA1-associated protein 1Low platelet countPlatelet countGermline mutationsPeritoneal mesotheliomaPM patientsReceiver operating characteristicMitotic scoreGermline testingHigher peritoneal cancer indexMitotic count scorePeritoneal cancer indexHyperthermic intraperitoneal chemotherapyReceiver operating characteristic analysisArea under the curvePhenotype of patientsCytoreductive surgeryGermline statusIntraperitoneal chemotherapyTumor burdenCancer indexSurgical characteristicsSurvival outcomesSurgical dataProspective study
2022
Prevalence of Pathogenic Germline Mutations in Solid Tumor Predisposition Genes Detected By Tumor-Normal Whole Exome Sequencing Analysis Among Adults with Hematologic Malignancies
Al-Kateb H, Jun T, Hayes J, Rossi M, Hantash F, Oh W, Onel K. Prevalence of Pathogenic Germline Mutations in Solid Tumor Predisposition Genes Detected By Tumor-Normal Whole Exome Sequencing Analysis Among Adults with Hematologic Malignancies. Blood 2022, 140: 7852-7853. DOI: 10.1182/blood-2022-159618.Peer-Reviewed Original ResearchA review of DICER1: structure, function and contribution to disease
Meiklejohn K, Darbinyan A, Barbieri A. A review of DICER1: structure, function and contribution to disease. Diagnostic Histopathology 2022, 28: 329-336. DOI: 10.1016/j.mpdhp.2022.05.004.Peer-Reviewed Original ResearchOverview of the 2022 WHO Classification of Neuroendocrine Neoplasms
Rindi G, Mete O, Uccella S, Basturk O, La Rosa S, Brosens L, Ezzat S, de Herder W, Klimstra D, Papotti M, Asa S. Overview of the 2022 WHO Classification of Neuroendocrine Neoplasms. Endocrine Pathology 2022, 33: 115-154. PMID: 35294740, DOI: 10.1007/s12022-022-09708-2.Peer-Reviewed Original ResearchConceptsNeuroendocrine tumorsNeuroendocrine neoplasmsSomatostatin receptorsWHO classificationNon-neuroendocrineDifferential diagnosisWHO Classification of EndocrineExpression of somatostatin receptorsWHO classification of neuroendocrine neoplasmsG3 neuroendocrine tumorsAssociated with germline mutationsPancreatic neuroendocrine tumorsClassification of neuroendocrine neoplasmsEctopic hormone productionLoss of RbLoss of ATRXSite of originComposite tumorMetastatic lesionsAberrant p53Amphicrine tumorsEpithelial neoplasmsPrecursor lesionsTheranostic biomarkersGermline mutationsLynch-like Syndrome: Potential Mechanisms and Management
Martínez-Roca A, Giner-Calabuig M, Murcia O, Castillejo A, Soto JL, García-Heredia A, Jover R. Lynch-like Syndrome: Potential Mechanisms and Management. Cancers 2022, 14: 1115. PMID: 35267422, PMCID: PMC8909420, DOI: 10.3390/cancers14051115.Peer-Reviewed Original ResearchLynch-like syndromeMicrosatellite instabilityLynch syndromeSporadic casesCommon hereditary colorectal cancer syndromeHereditary colorectal cancer syndromesGermline mutationsPotential mechanismsColorectal cancer syndromeFirst-degree relativesProportion of casesColon cancer casesPrevention of cancerAutosomal dominant disorderMMR immunohistochemistryColorectal cancerMismatch repair system genesCancer casesCancer syndromesSyndromeHereditary casesTumor samplesMMR genesDominant disorderMMR proteinsChapter 4 Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes
Ercan-Sencicek A, Chennappan S, Aromalaran K, Kontaridis M. Chapter 4 Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes. 2022, 65-110. DOI: 10.1016/b978-0-323-85765-9.00007-2.ChaptersCostello syndromeNoonan syndromeInducible pluripotent stem cellsMultiple lentiginesDistinct disease characteristicsRare autosomal dominant diseaseNonhuman model systemsAutosomal dominant diseaseStem cellsAnimal model systemsPluripotent stem cellsClinical presentationDisease characteristicsTherapeutic efficacySyndromeGermline mutationsDominant diseaseNeurodevelopmental defectsRAS-PI3KAkt signalingDisease mechanismsRAS-mitogen-activated protein kinaseDisordersPatientsDifferential activation
2021
Adopting Consensus Terms for Testing in Precision Medicine
Martin N, Tepper J, Giri V, Stinchcombe T, Cheng H, Javle M, Konnick E. Adopting Consensus Terms for Testing in Precision Medicine. JCO Precision Oncology 2021, 5: 1563-1567. PMID: 34651094, PMCID: PMC8509918, DOI: 10.1200/po.21.00027.Peer-Reviewed Original ResearchConceptsGenetic testingTreatment decisionsOncology health care providersHealth care providersPrecision medicineLow socioeconomic statusPreferred termPatient advocacy groupsGermline testingTumor characteristicsOncology carePatient preferencesBiomarker testingPatient educationCancer riskCare providersPatient confusionSolid tumorsBlood cancersGermline mutationsGermline variantsAppropriate testingPatientsSocioeconomic statusGenomic testingMolecular Mechanisms of Alcohol-Induced Colorectal Carcinogenesis
Johnson CH, Golla JP, Dioletis E, Singh S, Ishii M, Charkoftaki G, Thompson DC, Vasiliou V. Molecular Mechanisms of Alcohol-Induced Colorectal Carcinogenesis. Cancers 2021, 13: 4404. PMID: 34503214, PMCID: PMC8431530, DOI: 10.3390/cancers13174404.Peer-Reviewed Original ResearchColorectal cancerColorectal carcinogenesisChronic alcohol consumptionMost CRC patientsSporadic colorectal cancerGenetic risk factorsEffects of alcoholBacterial translocationCRC patientsFamilial cancer syndromeIntestinal permeabilityRisk factorsAlcohol consumptionCancer syndromesCRC modelMechanisms of alcoholAlcohol metabolitesGermline mutationsOne-carbon metabolismExact mechanismReactive oxygen speciesSporadic cancersCarcinogenesisImmunosuppressionCancerGenetic testing documentation in survivorship care plans in patients with breast cancer.
Kaur K, Shinde N, Klemanski D, Xu M, Aeilts A, Lustberg M, Jeter J. Genetic testing documentation in survivorship care plans in patients with breast cancer. Journal Of Clinical Oncology 2021, 39: e24110-e24110. DOI: 10.1200/jco.2021.39.15_suppl.e24110.Peer-Reviewed Original ResearchSurvivorship care plansGenetic testing resultsSCP templatesGenetic testingBreast cancerCare plansResult groupGermline mutationsRetrospective chart reviewBreast cancer patientsTest result groupOncology treatment teamNon-Hispanic whitesExtent of documentationCancer genetic testingGenetic counselorsSurvivorship visitChart reviewMedian ageCancer survivorsCancer patientsResult categoriesInvolved genesHereditary predispositionTreatment teamImprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules
Jimenez-Sainz J, Jensen RB. Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules. Genes 2021, 12: 780. PMID: 34065235, PMCID: PMC8161351, DOI: 10.3390/genes12050780.Peer-Reviewed Original ResearchConceptsCancer riskFunctional assaysUncertain significanceSomatic BRCA2 mutationClinical decision ruleFuture cancer riskClinical decision processBRCA2 VUSBiochemical functional assaysClinical findingsTherapeutic optionsTreatment optionsPancreatic cancerBRCA2 mutationsClinical guidancePlatinum agentsPathological outcomesBenign naturePARP inhibitorsBRCA2 genesGermline mutationsPathological impactAccurate functional assaysBRCA2 variantsPatientsDiverse immune response of DNA damage repair-deficient tumors
Qing T, Jun T, Lindblad KE, Lujambio A, Marczyk M, Pusztai L, Huang KL. Diverse immune response of DNA damage repair-deficient tumors. Cell Reports Medicine 2021, 2: 100276. PMID: 34095878, PMCID: PMC8149377, DOI: 10.1016/j.xcrm.2021.100276.Peer-Reviewed Original ResearchConceptsCancer typesDDR-deficient tumorsImmune checkpoint inhibitorsHigh neoantigen loadDifferent immune phenotypesDiverse immune responsesAdaptive immune markersRepair-deficient tumorsDDR deficiencyCheckpoint inhibitorsImmunotherapy outcomesDNA damage repair deficiencyImmune infiltratesImmune markersNeoantigen loadSurvival outcomesImmune phenotypeTumor neoantigensImmune responseAnimal modelsGenomic biomarkersGermline mutationsPathway mutationsTumorsRepair deficiencyEndometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review
Irshaid L, Clark M, Fadare O, Finberg KE, Parkash V. Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review. International Journal Of Gynecological Pathology 2021, 41: 258-267. PMID: 33990091, DOI: 10.1097/pgp.0000000000000792.Peer-Reviewed Original ResearchConceptsGermline TP53 mutationsEndometrial carcinomaTP53 mutationsGermline mutationsMissense substitution p.Predominant tumor typePremenopausal breast carcinomaAdrenal cortical tumorsTP53 geneTP53 germline mutationsSoft tissue sarcomasEndometrioid endometrial carcinomaEarly-onset malignanciesLi-Fraumeni syndromeAutosomal dominant disorderCortical tumorsPresenting tumourGynecologic malignanciesTissue sarcomasUterine carcinomaCase reportSpinal cordBreast carcinomaGrade 3Characteristic syndrome
2020
Heterogeneity in PD-L1 expression in malignant peritoneal mesothelioma with systemic or intraperitoneal chemotherapy
White M, Schulte J, Xue L, Berger Y, Schuitevoerder D, Vining C, Kindler H, Husain A, Turaga K, Eng O. Heterogeneity in PD-L1 expression in malignant peritoneal mesothelioma with systemic or intraperitoneal chemotherapy. British Journal Of Cancer 2020, 124: 564-566. PMID: 33100328, PMCID: PMC7851380, DOI: 10.1038/s41416-020-01130-x.Peer-Reviewed Original ResearchConceptsProgrammed death-ligand 1 expressionProgrammed death-ligand 1Malignant peritoneal mesotheliomaImmune checkpoint inhibitionCheckpoint inhibitionIntraperitoneal chemotherapyPeritoneal mesotheliomaLevel of PD-L1 expressionUpregulation of programmed death ligand 1Malignant peritoneal mesothelioma patientsTreatment-naive cohortPD-L1 expressionDeath-ligand 1Patient tumor biopsiesSomatic mutation burdenCytotoxic therapyTumor biopsiesMutational burdenGermline mutationsTreatment strategiesChemotherapyPatientsMultiple time pointsTime pointsMesothelioma
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