2025
Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. Cancer genetics evaluation among individuals at risk for Lynch syndrome across all qualifying indications. Journal Of Clinical Oncology 2025, 43: 10616-10616. DOI: 10.1200/jco.2025.43.16_suppl.10616.Peer-Reviewed Original ResearchLynch syndromeInherited cancer syndromeFamily historyPersonal historyCancer syndromesFamily history of colorectal cancerColorectal cancerPersonal history of cancerFamily history of cancerYale New Haven Health SystemLS-related cancersGenetic testingLS-associated cancersCancer genetic evaluationAt-riskIdentification of at-risk individualsAt-risk individualsPathogenic variantsLS cancersComparison of categorical variablesIndividuals at-riskEO-CRCPearson chi-squareHealth systemDescriptive statisticsAt-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes.
Singh V, Chen G, Sena A, Rafter T, Xicola R, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Hughes M, Kashyap N, Llor X. At-risk cancer genetic syndrome identification (ARCAGEN-ID): Novel EHR integrated system to overcome disparities in identification and testing for cancer genetic syndromes. Journal Of Clinical Oncology 2025, 43: 1600-1600. DOI: 10.1200/jco.2025.43.16_suppl.1600.Peer-Reviewed Original ResearchHereditary cancer syndromesOvercome disparitiesAt-riskGenetic testingHereditary cancer syndrome identificationCancer genetic syndromesPreventable cancer deathsMedicaid-insured individualsComplexity of guidelinesAt-risk individualsPathogenic variantsIndividuals at-riskNon-white individualsDecline testingLynch syndromeUnderserved populationsHealth systemNon-HispanicCancer syndromesChi-square testEligible individualsFamily historyInformational videoCancer deathGenetic counselingGermline testing for prostate cancer: current state and opportunities for enhanced access
Loeb S, Vadaparampil S, Giri V. Germline testing for prostate cancer: current state and opportunities for enhanced access. EBioMedicine 2025, 116: 105705. PMID: 40398351, PMCID: PMC12148599, DOI: 10.1016/j.ebiom.2025.105705.Peer-Reviewed Original ResearchConceptsGermline testingProstate cancerHereditary cancer assessmentFamily cancer historyHereditary cancer syndromesGenetic counseling programsCancer-related outcomesProstate cancer careCancer historyCancer syndromesDelivery modelsAdvanced prostate cancerMetastatic prostate cancerHigh-risk featuresImplementation strategiesBenefits of GTCounseling programCancer assessmentEnhanced accessTested patientsDisparitiesPCA-relatedPatientsGuidelinesProstateElectronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes
Singh V, Rafter T, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes. Journal Of Medical Genetics 2025, 62: 457-463. PMID: 40350248, DOI: 10.1136/jmg-2025-110718.Peer-Reviewed Original ResearchConceptsHereditary cancer syndromesElectronic health recordsGenetic testingElectronic health record-based registryCancer syndromesIdentification of individualsFamily history of cancerFamily historyFamily history criteriaAt-riskHistory of cancerAt-risk individualsHealth recordsPathogenic variantsProspective identification of individualsRegistryActive patientsSyndrome identificationFamily relationshipsIncreased diagnostic rateCancer-related survivalStreamlined processProspective identificationIndividualsTesting needsP577: Decreasing disparities in inherited cancer syndromes through a systems approach: The At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system
Xicola R, Singh V, Chen G, Senna A, Pugliese A, Hughes M, Rafter T, Liu J, Brown Q, Haight C, Kashyap N, Llor X. P577: Decreasing disparities in inherited cancer syndromes through a systems approach: The At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system. Genetics In Medicine Open 2025, 3: 102425. DOI: 10.1016/j.gimo.2025.102425.Peer-Reviewed Original Research
2024
Li-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
2022
Targeting Krebs-cycle-deficient renal cell carcinoma with Poly ADP-ribose polymerase inhibitors and low-dose alkylating chemotherapy
Ueno D, Vasquez JC, Sule A, Liang J, van Doorn J, Sundaram R, Friedman S, Caliliw R, Ohtake S, Bao X, Li J, Ye H, Boyd K, Huang RR, Dodson J, Boutros P, Bindra RS, Shuch B. Targeting Krebs-cycle-deficient renal cell carcinoma with Poly ADP-ribose polymerase inhibitors and low-dose alkylating chemotherapy. Oncotarget 2022, 13: 1054-1067. PMID: 36128328, PMCID: PMC9477221, DOI: 10.18632/oncotarget.28273.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine Diphosphate RiboseAnimalsCarcinoma, Renal CellCitric Acid CycleDioxygenasesDNAFumarate HydrataseFumaratesHumansJumonji Domain-Containing Histone DemethylasesKidney NeoplasmsLysineMicePoly (ADP-Ribose) Polymerase-1Poly(ADP-ribose) Polymerase InhibitorsSuccinate DehydrogenaseSuccinatesTemozolomideConceptsRenal cell carcinomaPoly ADP-ribose polymerase inhibitorsADP-ribose polymerase inhibitorsCell carcinomaSDH-deficient renal cell carcinomaPolymerase inhibitorsLow-dose temozolomideAggressive renal cell carcinomaHereditary cancer syndromesNovel therapeutic strategiesDeficient murine modelStandard dosingTMZ resultsMurine modelTherapeutic strategiesCombination treatmentCancer syndromesTumor growthHomologous recombination DNA repair pathwayAccumulation of fumarateHR deficiencyPARP inhibitionTemozolomideChemotherapyCarcinomaLynch-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 proteins
2021
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.
Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021. Journal Of The National Comprehensive Cancer Network 2021, 19: 1122-1132. PMID: 34666312, DOI: 10.1164/jnccn.2021.0048.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentFamilial adenomatous polyposisHigh-risk assessmentNCCN guidelinesHereditary cancer risk assessmentNCCN Guidelines InsightsManagement of patientsColorectal cancer syndromeFamilial adenomatous polyposis syndromeAdenomatous polyposis syndromeCancer risk assessmentPathogenic genetic variantsDuodenal neoplasiaCancer surveillancePolyposis syndromeHereditary syndromesIdentification of individualsCancer syndromesAdenomatous polyposisClinical expertiseSyndromeColorectalRisk reductionGenetic variantsNew scientific dataMolecular 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/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Daly M, Pal T, Berry M, Buys S, Dickson P, Domchek S, Elkhanany A, Friedman S, Goggins M, Hutton M, Karlan B, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton J, Mak J, Menendez C, Merajver S, Norquist B, Offit K, Pederson H, Reiser G, Senter-Jamieson L, Shannon K, Shatsky R, Visvanathan K, Weitzel J, Wick M, Wisinski K, Yurgelun M, Darlow S, Dwyer M. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. Journal Of The National Comprehensive Cancer Network 2021, 19: 77-102. PMID: 33406487, DOI: 10.6004/jnccn.2021.0001.Peer-Reviewed Original ResearchConceptsLikely pathogenic variantsLi-Fraumeni syndromePathogenic variantsPancreatic cancerGenetic/Familial High-Risk AssessmentCancer syndromesNCCN Clinical Practice GuidelinesBreast/ovarian cancer syndromePremenopausal breast cancerClinical practice guidelinesSoft tissue sarcomasHigh lifetime riskOvarian cancer syndromeGenetic testing/counselingRisk of breastPenetrant cancer syndromeNCCN guidelinesTissue sarcomasAdrenocortical carcinomaLifetime riskOvarian cancerProstate cancerBreast cancerGastric cancerHigh-risk assessment
2020
Genetic Gastric Cancer Risk Syndromes
Lerner BA, Llor X. Genetic Gastric Cancer Risk Syndromes. Current Treatment Options In Gastroenterology 2020, 18: 604-615. PMID: 33776403, PMCID: PMC7992355, DOI: 10.1007/s11938-020-00312-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsHereditary gastric cancer syndromesHereditary diffuse gastric cancerGastric cancer syndromeGastric cancerHamartomatous polyposis syndromesPolyposis syndromeLynch syndromeRisk syndromeCancer syndromesPathogenic variantsMultigene panel testingAdenomatous polyposis syndromeDiffuse gastric cancerCumulative incidenceProximal polyposisRecent FindingsPatientsCancer deathClinical criteriaGastric adenocarcinomaLeading causeProphylactic gastrectomyMutation statusPanel testingSyndromeCancer penetranceEstimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020, 126: 3657-3666. PMID: 32413184, PMCID: PMC10316675, DOI: 10.1002/cncr.32914.Peer-Reviewed Original ResearchConceptsFumarate hydrataseExome Aggregation ConsortiumAllele frequenciesFH geneGenome ProjectDifferent world populationsFH alterationsHereditary leiomyomatosisKidney cancer riskCancer penetranceMissense alterationsGenesOverall allele frequencyRare variantsLow penetranceRenal cancerExACKidney cancerCancer riskPenetranceGermline mutationsLethal formWorld populationCancer syndromesAlterationsHereditary Prostate Cancer
Giri V, Beebe-Dimmer J, Cooney K. Hereditary Prostate Cancer. 2020, 283-292. DOI: 10.1201/9781351187435-33.Peer-Reviewed Original ResearchHereditary prostate cancerProstate cancerCancer syndromesGenetic testing guidelinesMetastatic prostate cancerProstate cancer riskOvarian cancer syndromeHereditary cancer syndromesPrecision oncology studyClinical featuresLynch syndromeFatal cancerCancer riskGenetic predispositionHereditary breastCancerGenetic testingFamilial clusteringTesting guidelinesSyndromeGermline geneticsOncology studiesCancer susceptibilityGermline variationClinical applicationNCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly M, Pilarski R, Yurgelun M, Berry M, Buys S, Dickson P, Domchek S, Elkhanany A, Friedman S, Garber J, Goggins M, Hutton M, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton J, Mak J, Menendez C, Merajver S, Norquist B, Offit K, Pal T, Pederson H, Reiser G, Shannon K, Visvanathan K, Weitzel J, Wick M, Wisinski K, Dwyer M, Darlow S. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. Journal Of The National Comprehensive Cancer Network 2020, 18: 380-391. PMID: 32259785, DOI: 10.6004/jnccn.2020.0017.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentHigh-risk assessmentGenetic testingNCCN Guidelines InsightsHereditary cancer syndromesHigh-penetrance genesNCCN panelNCCN guidelinesSystemic therapyAshkenazi Jewish ancestryMost recent recommendationsRelevant new dataPancreatic cancerOvarian cancerCancer syndromesRecent recommendationsCancerBreastSyndromeOvarianManagement recommendationsJewish ancestryRisk management recommendations
2019
Response to Letter to the Editor: High Oncotype DX Recurrence Score, Hereditary Cancer Syndromes, and Referral for Germline Genetic Testing
Casasanta N, Amdur R, Kaltman R. Response to Letter to the Editor: High Oncotype DX Recurrence Score, Hereditary Cancer Syndromes, and Referral for Germline Genetic Testing. Clinical Breast Cancer 2019, 20: e198-e199. PMID: 31964593, DOI: 10.1016/j.clbc.2019.12.007.Peer-Reviewed Original ResearchPrevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men
Chandrasekar T, Gross L, Gomella L, Hegarty S, Leong J, Giri V. Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men. European Urology Oncology 2019, 3: 291-297. PMID: 31278035, DOI: 10.1016/j.euo.2019.06.010.Peer-Reviewed Original ResearchConceptsHereditary cancer syndromesProstate cancerCancer syndromesFamily historyGermline mutationsExact testHereditary breastGenetic testingAfrican AmericansPCa family historyAfrican American patientsOvarian cancer syndromeCascade genetic testingFisher's exact testHereditary prostate cancerBRCA mutationsLynch syndromeOvarian cancerSyndromeCancerCascade testingDiverse cohortAA participantsSpectrum of genesFHxCurrent Approaches to Pancreatic Cancer Screening
Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ. Current Approaches to Pancreatic Cancer Screening. American Journal Of Pathology 2019, 189: 22-35. PMID: 30558719, DOI: 10.1016/j.ajpath.2018.09.013.BooksConceptsPancreatic ductal adenocarcinomaHigh-risk individualsRisk factorsCancer syndromesHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeEarly resectable stagePancreatic cancer screeningScreening strategyFamilial atypical multipleCancer-related deathOvarian cancer syndromeCurrent screening strategiesLi-Fraumeni syndromePeutz-Jeghers syndromeGenetic risk factorsResectable stageCancer screeningPancreatic cancerChronic diseasesDuctal adenocarcinomaLynch syndromePrecursor lesionsLower incidenceFamilial history
2018
CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment
Luo W, Fedda F, Lynch P, Tan D. CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment. Frontiers In Pharmacology 2018, 9: 1421. PMID: 30568591, PMCID: PMC6290068, DOI: 10.3389/fphar.2018.01421.Peer-Reviewed Original ResearchInternational Gastric Cancer Linkage ConsortiumHereditary diffuse gastric cancer syndromeGastric cancer syndromeGastric cancerMutation carriersGermline mutationsCancer syndromesCommon germline mutationsProphylactic total gastrectomyInvasive lobular carcinomaOptimal surveillance strategySporadic diffuse gastric cancerRecent histologic studiesFamilial gastric cancerDiffuse gastric cancerMost cancer mortalityTotal gastrectomySurgical candidatesDismal prognosisCommon malignancyHistological findingsLobular carcinomaCancer mortalityColorectal cancerColorectal adenocarcinomaClinical outcomes of adolescents and young adults with advanced solid tumours participating in phase I trials
Sundar R, McVeigh T, Dolling D, Petruckevitch A, Diamantis N, Ang J, Chenard-Poiriér M, Collins D, Lim J, Ameratunga M, Khan K, Kaye S, Banerji U, Lopez J, George A, de Bono J, van der Graaf W. Clinical outcomes of adolescents and young adults with advanced solid tumours participating in phase I trials. European Journal Of Cancer 2018, 101: 55-61. PMID: 30025230, DOI: 10.1016/j.ejca.2018.06.003.Peer-Reviewed Original ResearchConceptsPhase I trialPhase I clinical trialAdvanced solid tumorsI trialOverall survivalAYA patientsSolid tumorsCancer syndromesCohort of AYA patientsMolecular characterisation of tumoursOutcomes of AYA patientsClinical benefit rateMedian overall survivalOutcomes of AYAsSomatic genetic aberrationsSignificant family historyRoyal Marsden HospitalHereditary cancer syndromesCharacterisation of tumoursTherapeutic treatment optionsClinical outcomes of adolescentsClinical trial dataDrug Development UnitYoung adultsGenetic aberrations
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