2023
Inherited risk for prostate cancer (PCa): Following the natural history of men with high-risk genetics using multiparametric MRI (mpMRI).
Couvillon A, Turkbey B, Choyke P, Lee-Wisdom K, McKinney Y, Sidlow R, Mullane M, Giri V, Morgan T, Cheng H, Merino M, Figg W, Pinto P, Dahut W, Karzai F. Inherited risk for prostate cancer (PCa): Following the natural history of men with high-risk genetics using multiparametric MRI (mpMRI). Journal Of Clinical Oncology 2023, 41: 390-390. DOI: 10.1200/jco.2023.41.6_suppl.390.Peer-Reviewed Original ResearchGermline pathogenic variantsProstate cancerActive surveillancePathogenic variantsMedian ageRadiation therapyMonitoring of PCaDiagnosis of PCaDistinct pathogenic variantsHigh-risk geneticsPIRADS 3 lesionsPIRADS 4 lesionsISUP grade group 1Grade group 1Localized prostate cancerMonoallelic pathogenic variantsDNA mismatch repair genesLikely pathogenic variantsProstate cancer diagnosisMismatch repair genesDefinitive treatmentPSA monitoringProstate biopsyBiopsy specimensRisk factors
2022
A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in Mice
Meas R, Nititham J, Taylor KE, Maher S, Clairmont K, Carufe KEW, Kashgarian M, Nottoli T, Cheong A, Nagel ZD, Gaffney PM, Criswell LA, Sweasy JB. A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in Mice. ACR Open Rheumatology 2022, 4: 760-770. PMID: 35708944, PMCID: PMC9469486, DOI: 10.1002/acr2.11471.Peer-Reviewed Original ResearchSystemic lupus erythematosusAntinuclear antibodiesMSH6 variantsLupus erythematosusMSH6 mutationsMouse modelSingle nucleotide polymorphismsDevelopment of SLELevel of ANAInfiltration of CD68Lupus-like diseaseInflammatory lung diseasesLung alveolar spacesRepair genesMismatch repair genesLung diseaseHealthy controlsPeyer's patchesWildtype miceAlveolar spaceCRISPR/Cas9 gene targetingSomatic hypermutation frequenciesAutoimmune phenotypeMiceDifferent mismatch repair genes
2021
Sex-Biased Aging Effects on Ig Somatic Hypermutation Targeting
Cui A, Chawla DG, Kleinstein SH. Sex-Biased Aging Effects on Ig Somatic Hypermutation Targeting. The Journal Of Immunology 2021, 206: 101-108. PMID: 33288546, PMCID: PMC8582005, DOI: 10.4049/jimmunol.2000576.Peer-Reviewed Original ResearchConceptsOlder individualsDNA mismatch repair genesSex groupsObserved clinical differencesMismatch repair genesB cell IgDecreased expression levelDNA repair activityImmunologic responseClinical differencesAb responsesFemale human subjectsOld maleAged individualsImpaired levelDifferent agesYounger counterpartsPhase ILargest fold changeYoung individualsError-prone DNA repair activityExpression levelsHuman subjectsMutation patternsRepair activity
2020
Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies
Vyas M, Firat C, Hechtman J, Weiser M, Yaeger R, Vanderbilt C, Benhamida J, Keshinro A, Zhang L, Ntiamoah P, Gonzalez M, Andrade R, El Dika I, Markowitz A, Smith J, Garcia-Aguilar J, Vakiani E, Klimstra D, Stadler Z, Shia J. Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies. Familial Cancer 2020, 20: 201-213. PMID: 33033905, PMCID: PMC8032798, DOI: 10.1007/s10689-020-00210-4.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overCarcinomaCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA-Binding ProteinsFemaleGastrointestinal NeoplasmsGerm-Line MutationHumansMaleMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2Neoplasms, Multiple PrimaryNeoplasms, Second PrimaryConceptsPolymerase proofreading-associated polyposisFamilial adenomatous polyposisLynch syndromeColorectal cancerMismatch repair testingMismatch repair genesMismatch repairTumor DNA mismatch repairMMR-deficient carcinomasTreatment decision-makingAdenomatous polyposisLS detectionMismatch repair proteinsDNA mismatch repairSynchronous/metachronous tumorsHereditary syndromesGermline mutationsPrimary colorectal cancerPolyposisCRC patientsMismatch repair protein statusMMR-deficient cancersCancerEffective strategyDecision-makingImplementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, Dahut W, Weissman S, Soule HR, Petrylak DP, Dicker AP, AlDubayan SH, Toland AE, Pritchard CC, Pettaway CA, Daly MB, Mohler JL, Parsons JK, Carroll PR, Pilarski R, Blanco A, Woodson A, Rahm A, Taplin ME, Polascik TJ, Helfand BT, Hyatt C, Morgans AK, Feng F, Mullane M, Powers J, Concepcion R, Lin DW, Wender R, Mark JR, Costello A, Burnett AL, Sartor O, Isaacs WB, Xu J, Weitzel J, Andriole GL, Beltran H, Briganti A, Byrne L, Calvaresi A, Chandrasekar T, Chen DYT, Den RB, Dobi A, Crawford ED, Eastham J, Eggener S, Freedman ML, Garnick M, Gomella PT, Handley N, Hurwitz MD, Izes J, Karnes RJ, Lallas C, Languino L, Loeb S, Lopez AM, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann M, Mille P, Miner MM, Morgan T, Moreno J, Mucci L, Myers RE, Nielsen SM, O'Neil B, Pinover W, Pinto P, Poage W, Raj GV, Rebbeck TR, Ryan C, Sandler H, Schiewer M, Scott EMD, Szymaniak B, Tester W, Trabulsi EJ, Vapiwala N, Yu EY, Zeigler-Johnson C, Gomella LG. Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019. Journal Of Clinical Oncology 2020, 38: 2798-2811. PMID: 32516092, PMCID: PMC7430215, DOI: 10.1200/jco.20.00046.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsGermline testingFamily historyAdditional family historyHereditary cancer assessmentMetastatic disease treatmentAge 40 yearsClinical trial eligibilityPost-test discussionMultidisciplinary consensus conferenceProstate cancer treatmentMismatch repair genesCurrent practice challengesHereditary PCaTrial eligibilityMetastatic diseasePriority genesPathologic criteriaSomatic testingMetastatic PCaProstate cancerPCa diagnosisConsensus conferenceEvidence reviewCancer assessmentInformed consentRisk of Metachronous Colorectal Neoplasm after a Segmental Colectomy in Lynch Syndrome Patients According to Mismatch Repair Gene Status
Quezada-Diaz FF, Hameed I, von Mueffling A, Salo-Mullen EE, Catalano A, Smith JJ, Weiser MR, Garcia-Aguilar J, Stadler ZK, Guillem JG. Risk of Metachronous Colorectal Neoplasm after a Segmental Colectomy in Lynch Syndrome Patients According to Mismatch Repair Gene Status. Journal Of The American College Of Surgeons 2020, 230: 669-675. PMID: 32007537, PMCID: PMC7104918, DOI: 10.1016/j.jamcollsurg.2020.01.005.Peer-Reviewed Original ResearchConceptsLP/P variantsMetachronous colorectal cancerColorectal cancerTotal colectomySegmental resectionSegmental colectomyMMR genesLS patientsLynch syndromeMetachronous colorectal neoplasmsMismatch repair gene statusPrimary end pointRetrospective cohort studyMMR germline mutationsLynch syndrome patientsQuality of lifeMismatch repair genesCRC overallCRC ratesEarly colectomyIndex resectionMedian followMSH2 carriersCRC incidenceCohort studyFrequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients
Wong S, Hui P, Buza N. Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients. Modern Pathology 2020, 33: 1172-1181. PMID: 31932681, DOI: 10.1038/s41379-020-0455-x.Peer-Reviewed Original ResearchConceptsLynch syndrome patientsLynch syndromeMMR protein expressionSporadic endometrial carcinomasSyndrome patientsEndometrial cancerEndometrial glandsEndometrial carcinomaProtein expressionLynch syndrome-associated endometrial cancerGermline mutationsMismatch repair protein expressionMMR protein immunohistochemistryEndometrial cancer patientsNonneoplastic endometriumBenign endometrial tissuesMicrosatellite instability testingMMR protein lossGermline mutation analysisDNA mismatch repair genesRepair protein expressionMismatch repair genesBackground endometriumMMR immunohistochemistryProphylactic hysterectomy
2018
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson M, Janjigian Y, O’Reilly E, Segal N, Saltz L, Reidy-Lagunes D, Varghese A, Bajorin D, Carlo M, Cadoo K, Walsh M, Weiser M, Aguilar J, Klimstra D, Diaz L, Baselga J, Zhang L, Ladanyi M, Hyman D, Solit D, Robson M, Taylor B, Offit K, Berger M, Stadler Z. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. Journal Of Clinical Oncology 2018, 37: 286-295. PMID: 30376427, PMCID: PMC6553803, DOI: 10.1200/jco.18.00283.Peer-Reviewed Original ResearchConceptsGenetic testing criteriaPrevalence of LSFamily cancer historyMicrosatellite instabilityMSI-HMismatch repair genesMMR-D tumorsMicrosatellite instability statusHigh-frequency microsatellite instabilityPrediction of LSLynch syndromeMMR-DCancer historyCancer surveillanceEndometrial cancerPersonal/family historyUnique patientsMismatch repair deficiencyPreventive measuresCancer predispositionSolid tumorsAffected familiesTumor spectrumImmunohistochemical stainingRepair genesMulticenter Phase IB Trial of Carboxyamidotriazole Orotate and Temozolomide for Recurrent and Newly Diagnosed Glioblastoma and Other Anaplastic Gliomas.
Omuro A, Beal K, McNeill K, Young RJ, Thomas A, Lin X, Terziev R, Kaley TJ, DeAngelis LM, Daras M, Gavrilovic IT, Mellinghoff I, Diamond EL, McKeown A, Manne M, Caterfino A, Patel K, Bavisotto L, Gorman G, Lamson M, Gutin P, Tabar V, Chakravarty D, Chan TA, Brennan CW, Garrett-Mayer E, Karmali RA, Pentsova E. Multicenter Phase IB Trial of Carboxyamidotriazole Orotate and Temozolomide for Recurrent and Newly Diagnosed Glioblastoma and Other Anaplastic Gliomas. Journal Of Clinical Oncology 2018, 36: 1702-1709. PMID: 29683790, PMCID: PMC5993168, DOI: 10.1200/jco.2017.76.9992.Peer-Reviewed Original ResearchConceptsAnaplastic gliomasCohort 2Cohort 1Median progression-free survivalFavorable brain penetrationMedian overall survivalPhase Ib studyPhase Ib trialPhase II doseProgression-free survivalRecurrent anaplastic gliomasDependent calcium channelsNovel oral inhibitorSignal of activityMismatch repair genesIb trialTreat populationMethylguanine-DNA methyltransferaseOverall survivalComplete responseFlat doseOral inhibitorBrain penetrationResults FortyTherapeutic concentrations
2017
Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017
Giri VN, Knudsen KE, Kelly WK, Abida W, Andriole GL, Bangma CH, Bekelman JE, Benson MC, Blanco A, Burnett A, Catalona WJ, Cooney KA, Cooperberg M, Crawford DE, Den RB, Dicker AP, Eggener S, Fleshner N, Freedman ML, Hamdy FC, Hoffman-Censits J, Hurwitz MD, Hyatt C, Isaacs WB, Kane CJ, Kantoff P, Karnes RJ, Karsh LI, Klein EA, Lin DW, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann MJ, Mark JR, McCue PA, Miner MM, Morgan T, Moul JW, Myers RE, Nielsen SM, Obeid E, Pavlovich CP, Peiper SC, Penson DF, Petrylak D, Pettaway CA, Pilarski R, Pinto PA, Poage W, Raj GV, Rebbeck TR, Robson ME, Rosenberg MT, Sandler H, Sartor O, Schaeffer E, Schwartz GF, Shahin MS, Shore ND, Shuch B, Soule HR, Tomlins SA, Trabulsi EJ, Uzzo R, Vander Griend DJ, Walsh PC, Weil CJ, Wender R, Gomella LG. Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017. Journal Of Clinical Oncology 2017, 36: jco.2017.74.117. PMID: 29236593, PMCID: PMC6075860, DOI: 10.1200/jco.2017.74.1173.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsProstate cancerGenetic testingMetastatic castration-resistant prostate cancerCastration-resistant prostate cancerAggressive prostate cancerProstate cancer riskGenetic counselingMultidisciplinary consensus statementDNA mismatch repair genesExpert consensus conferenceFamilial prostate cancerHereditary prostate cancerClinical genetic testingMismatch repair genesMetastatic settingPCa managementLynch syndromeOvarian cancerBRCA2 mutationsConsensus statementFamily historyCancer riskHeterogeneous diseaseConsensus conferenceComprehensive genetic evaluationPDTM-25. GENETIC SUSCEPTIBILITY AND EVOLUTION OF PEDIATRIC IDH-MUTANT INFILTRATING ASTROCYTOMAS
Bornhorst M, Goecks J, Boue D, Broniscer A, Hwang E, Koschmann C, Marks A, Mody R, Mueller S, Orr B, Packer R, Solomon D, Turner J, Vortmeyer A, Nazarian J, Ho C. PDTM-25. GENETIC SUSCEPTIBILITY AND EVOLUTION OF PEDIATRIC IDH-MUTANT INFILTRATING ASTROCYTOMAS. Neuro-Oncology 2017, 19: vi195-vi195. PMCID: PMC5692642, DOI: 10.1093/neuonc/nox168.789.Peer-Reviewed Original ResearchTP53 mutationsPediatric gliomasGermline mutationsIDH mutationsLow-grade tumorsHigh-grade tumorsLow mutation burdenYears of ageHigh-grade astrocytomasGermline TP53 mutationsMismatch repair genesIDH-mutant astrocytomasYounger patientsMulti-institution studyEarly lesionsMutation burdenMutant allele frequencyPatientsSporadic casesAstrocytomasTumorsSporadic tumorsAdult counterpartsGenetic susceptibilityLow cellularityA prospective analysis of germline alterations (GA) in biliary tract cancer (BTC).
Lowery M, Jordan E, Kemel Y, Mukherjee S, Cercek A, Kemeny N, Varghese A, Rusek M, Boucher T, Mandelker D, Berger M, Ptashkin R, Hyman D, Klimstra D, Saltz L, O'Reilly E, Robson M, Stadler Z, Offit K, Abou-Alfa G. A prospective analysis of germline alterations (GA) in biliary tract cancer (BTC). Journal Of Clinical Oncology 2017, 35: 4085-4085. DOI: 10.1200/jco.2017.35.15_suppl.4085.Peer-Reviewed Original ResearchBiliary tract cancerHistory of cancerGermline alterationsPositive family history of cancerProspective analysisFamily history of cancerHereditary cancer predisposition syndromesMatched tumor samplesPersonal history of cancerPositive family historyCancer predisposition syndromeHereditary cancer predispositionIRB-approved protocolMedian ageMSK-IMPACTPredisposition syndromeSomatic alterationsGermline mutationsTumor samplesMismatch repair genesGermline variantsClinical dataFamily historyCancer predispositionDegree relativesClinical characterization of pancreatic ductal adenocarcinomas (PDAC) with mismatch repair (MMR) gene mutations.
Hu Z, Varghese A, Shia J, Zervoudakis A, Lowery M, Yu K, Chalasani S, Robson M, Stadler Z, Caron P, Kelsen D, Klimstra D, Kelly D, O'Reilly E. Clinical characterization of pancreatic ductal adenocarcinomas (PDAC) with mismatch repair (MMR) gene mutations. Journal Of Clinical Oncology 2017, 35: e15791-e15791. DOI: 10.1200/jco.2017.35.15_suppl.e15791.Peer-Reviewed Original ResearchMemorial Sloan Kettering Cancer CenterPancreatic ductal adenocarcinomaMismatch repair genesMismatch repair deficiencyMutational burdenGermline mutationsFollow-upTumor next generation sequencingNext generation sequencingSomatic mutationsPersonal/family history of cancerImmune oncology agentsResponse to immunotherapyCheckpoint inhibitor trialsLynch syndromePrognostically favorable subgroupHistory of cancerResectable diseaseUnresectable tumorsMismatch repairFavorable subgroupMSK-IMPACTInhibitor trialsPDAC patientsDuctal adenocarcinomaCorrelation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens
Akbari MR, Zhang S, Cragun D, Lee JH, Coppola D, McLaughlin J, Risch HA, Rosen B, Shaw P, Sellers TA, Schildkraut J, Narod SA, Pal T. Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. Familial Cancer 2017, 16: 351-355. PMID: 28176205, DOI: 10.1007/s10689-017-9973-1.Peer-Reviewed Original ResearchConceptsOvarian cancer specimensOvarian cancerCancer specimensMicrosatellite instabilityGermline mutationsMMR mutationsMSI testingGermline MMR gene mutationsMMR genesPathogenic MMR mutationsMalignant ovarian cancerMMR gene mutationsPositive predictive valueMismatch repair genesMSI-positive cancersLynch syndromeMore microsatellite markersUnselected casesPredictive valuePatientsCancerPotential patientsGermline DNAGene mutationsWomen
2016
HOXB13 and other high penetrant genes for prostate cancer
Pilie P, Giri V, Cooney K. HOXB13 and other high penetrant genes for prostate cancer. Asian Journal Of Andrology 2016, 18: 530-532. PMID: 27034017, PMCID: PMC4955175, DOI: 10.4103/1008-682x.175785.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHereditary cancer syndromesMismatch repair genesCancer syndromesGermline mutationsProstate cancerMultiple primary malignanciesOvarian cancer syndromeCancer family syndromeDeleterious germline mutationsRare tumor typeCancer cell growthRepair genesHigh-penetrance genesPenetrant germline mutationsPrimary malignancyCommon cancerLi-FraumeniKey tumor suppressor genesFamily syndromeCancer tissuesHereditary breastTumor typesSyndromeCancer typesCancerMismatch repair deficiency testing in clinical practice
Buza N, Ziai J, Hui P. Mismatch repair deficiency testing in clinical practice. Expert Review Of Molecular Diagnostics 2016, 16: 591-604. PMID: 26895074, DOI: 10.1586/14737159.2016.1156533.Peer-Reviewed Original ResearchConceptsLynch syndromeDeficiency testingMismatch repair deficiency testingMicrosatellite instabilityMMR deficiency testingMMR gene deficiencyDNA mismatch repair genesCurrent diagnostic algorithmsLynch syndrome familiesProfound genetic instabilityMicrosatellite instability analysisMismatch repair genesEndometrial malignancyClinical managementUltimate diagnosisClinical OncologyClinical practiceClinical testingTumor tissueSyndromeCancer developmentMMR genesDiagnostic algorithmGene deficiencyGermline DNA
2015
DNA-repair defects in pancreatic neuroendocrine tumors and potential clinical applications
Liu IH, Ford JM, Kunz PL. DNA-repair defects in pancreatic neuroendocrine tumors and potential clinical applications. Cancer Treatment Reviews 2015, 44: 1-9. PMID: 26924193, DOI: 10.1016/j.ctrv.2015.11.006.Peer-Reviewed Original ResearchConceptsDNA repair pathwaysDNA repair defectsRepair pathwaysRepair genesRelevant DNA repair pathwaysPromoter hypermethylationDNA repair gene MGMTDNA repair processesDNA repair genesMMR genesTumor samplesDNA repairGene MGMTSpecific genesLoss of expressionUnderexpressed genesRepair defectsGenetic landscapeGenesMLH1 MMR geneDNA mismatch repair genesRepair mechanismsMGMT geneMismatch repair genesPTENMutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Santa Cruz Guindalini R, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, Kupfer SS. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome. Gastroenterology 2015, 149: 1446-1453. PMID: 26248088, PMCID: PMC4648287, DOI: 10.1053/j.gastro.2015.07.052.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAdultAge FactorsAgedAged, 80 and overBlack or African AmericanColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFamilyFemaleHumansIncidenceMaleMiddle AgedMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsRetrospective StudiesRisk FactorsSex FactorsConceptsColorectal cancerLynch syndromeCumulative riskRisk of CRCUS referral centersMMR gene mutationsMutation spectrumNongenetic risk factorsYears of ageMismatch repair genesMMR gene productsMutation-carrying familiesReferral centerRetrospective studyCRC riskRisk factorsFamily historyCancer riskHigh incidenceCRC conditionsSyndromeAbstractTextMMR genesAscertainment criteriaCancerPrevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Journal Of Medical Genetics 2015, 52: 498. PMID: 25908759, DOI: 10.1136/jmedgenet-2015-103076.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingBase SequenceColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairEpigenesis, GeneticGenetic TestingHumansMicrosatellite RepeatsMolecular Sequence DataMutationMutL Protein Homolog 1Nuclear ProteinsPrevalencePromoter Regions, GeneticSequence Analysis, DNAStatistics, NonparametricConceptsColorectal cancerMLH1 expressionConstitutional epimutationsMultiplex ligation-dependent probe amplificationLigation-dependent probe amplificationMethylation-specific multiplex ligation-dependent probe amplificationDiagnosis of CRCConstitutional MLH1 methylationSeries of patientsMismatch repair genesProbe amplificationBethesda guidelinesConsecutive seriesUnselected seriesLynch syndromeUnselected casesUnselected groupGeneral populationUnselected populationPatientsMLH1 methylationNegligible prevalenceGermline alterationsPrevalenceMLH1 epimutations
2012
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer
Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. British Journal Of Cancer 2012, 107: 1783-1790. PMID: 23047549, PMCID: PMC3493867, DOI: 10.1038/bjc.2012.452.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCarcinoma, Ovarian EpithelialColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA-Binding ProteinsFemaleHumansMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasms, Glandular and EpithelialNuclear ProteinsOvarian NeoplasmsConceptsHereditary non-polyposis colorectal cancerPopulation-based studyEpithelial ovarian cancerOvarian cancerNon-polyposis colorectal cancerNon-serous histologyPathogenic mutation carriersMismatch repair gene mutationsGene mutationsOvarian cancer patientsHNPCC genesPopulation-based sampleRepair gene mutationsMismatch repair genesFamily history informationPathogenic missense variantsColorectal cancerMean ageCancer patientsMSH6 mutationsTreatment decisionsMutation carriersFrequency of mutationsPathogenic variantsCancer
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