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
2023
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Daly M, Pal T, Maxwell K, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys S, Cheng H, Domchek S, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton M, Karlan B, Kassem N, Khan S, Khoury K, Kurian A, Laronga C, Mak J, Mansour J, McDonnell K, Menendez C, Merajver S, Norquist B, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon K, Visvanathan K, Welborn J, Wick M, Wood M, Yurgelun M, Dwyer M, Darlow S. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. Journal Of The National Comprehensive Cancer Network 2023, 21: 1000-1010. PMID: 37856201, DOI: 10.6004/jnccn.2023.0051.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentNCCN guidelinesHigh-risk assessmentProstate cancerLP variantsGenetic counseling/testingNCCN Guidelines InsightsRisk of breastLi-Fraumeni syndromeUterine cancerOvarian cancerBreast cancerHereditary predispositionCare strategiesRisk reduction strategiesPathogenic variantsCancerBreastOvarianGender diverse peopleImportant updatesGuidelinesAssessmentSyndromePancreatic
2022
Clinical utility of widespread germline testing of cancer patients in a diverse community cancer clinic.
Patel K, Oh W, Jun T, Naidu S, Nathwani N, Hansen G, Hubert A, Mukhi H, Chhadwa S, Zabala V, Gill S, Branchcomb R, Mehta D, Nixon S, Kodali A, Zimmerman M. Clinical utility of widespread germline testing of cancer patients in a diverse community cancer clinic. Journal Of Clinical Oncology 2022, 40: e18537-e18537. DOI: 10.1200/jco.2022.40.16_suppl.e18537.Peer-Reviewed Original ResearchGermline testingGermline findingsAfrican AmericansRural underserved populationsCommunity cancer clinicsObservational cohortRisk-reducing interventionsRural South CarolinaPractice of guidelinesCancer patientsClinical practice guidelinesIdentification of germline mutationsProspective cohort studyStandard clinical guidelinesLi-Fraumeni syndromeCancer screeningCancer clinicUnderserved populationsDetection of pathogenic variantsGuideline concordanceReport prevalenceSocioeconomic populationsIncome patientsClinical guidelinesClinical utility
2021
Endometrial 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 syndromeMultiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome
Hong CS, Erson-Omay EZ, Moliterno J. Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome. Surgical Neurology International 2021, 12: 99. PMID: 33880204, PMCID: PMC8053471, DOI: 10.25259/sni_125_2019.Peer-Reviewed Original ResearchLi-Fraumeni syndromeMultiple meningiomasWorld Health Organization grade ITime of presentationCommon intracranial tumorsWhole-exome sequencingGeneralized seizuresPatient populationMedical historyGrade IIntracranial tumorsMeningiomasSyndromeNovel presentationRight hemisphereHeterozygous deletionPatientsTumorsGenetic/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
2019
Current 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
2016
Endometrial carcinoma as the presenting malignancy in an 18-year-old patient with Li-Fraumeni syndrome
Clark M, Menderes G, Azodi M, Finberg K, Canosa S, Parkash V. Endometrial carcinoma as the presenting malignancy in an 18-year-old patient with Li-Fraumeni syndrome. Gynecologic Oncology 2016, 141: 183-184. DOI: 10.1016/j.ygyno.2016.04.473.Peer-Reviewed Original Research
2013
Prevalence of germline TP53 mutations in HER2+ breast cancer patients
Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE. Prevalence of germline TP53 mutations in HER2+ breast cancer patients. Breast Cancer Research And Treatment 2013, 139: 193-198. PMID: 23580068, PMCID: PMC4280061, DOI: 10.1007/s10549-012-2375-z.Peer-Reviewed Original ResearchConceptsGermline TP53 mutationsLi-Fraumeni syndromeBreast cancer ageBreast cancerTP53 mutationsCancer ageER/PR statusYoung womenGermline TP53 mutation carriersGermline TP53 testingUnselected young womenTP53 mutation carriersBreast cancer patientsCohort of womenFamily cancer historyPotential clinical impactTP53 carriersTP53 testingPR statusSingle centerFrequent tumorsCancer historyCancer patientsChompret criteriaMultiplex ligation-dependent probe amplification (MLPA) technique
2011
P1-09-03: Prevalence of Germline TP53 Mutations in Young Women with HER2−Positive Breast Cancer.
Dick M, Masciari S, Miron A, Miron P, Foley K, Gelman R, Dillon D, Richardson A, Verselis S, Lypas G, Krop I, Garber J. P1-09-03: Prevalence of Germline TP53 Mutations in Young Women with HER2−Positive Breast Cancer. Cancer Research 2011, 71: p1-09-03-p1-09-03. DOI: 10.1158/0008-5472.sabcs11-p1-09-03.Peer-Reviewed Original ResearchGermline TP53 mutationsHER2-positive breast cancerPositive breast cancerBreast cancerTP53 mutationsBC diagnosisFamily historyBRCA1/2 mutationsYounger ageDana-Farber Cancer InstituteYoung womenJ Clin OncolYoung-onset breast cancerPopulation-based seriesCohort of womenFamily cancer historyOnset breast cancerLi-Fraumeni syndromeGermline DNA samplesEstimates of prevalenceTP53 testingER-/PRMultiplex ligation-dependent probe amplification analysisFrequent tumorsCancer historyA rare case of an aldosterone secreting metastatic adrenocortical carcinoma and papillary thyroid carcinoma in a 31-year-old male
Wanta SM, Basina M, Chang SD, Chang DT, Ford JM, Greco R, Kingham K, Merritt RE, Kunz PL. A rare case of an aldosterone secreting metastatic adrenocortical carcinoma and papillary thyroid carcinoma in a 31-year-old male. Rare Tumors 2011, 3: e45. PMID: 22355500, PMCID: PMC3282450, DOI: 10.4081/rt.2011.e45.Peer-Reviewed Original ResearchPapillary thyroid carcinomaMetastatic adrenocortical carcinomaAdrenocortical carcinomaThyroid carcinomaLarge left adrenal massMultiple endocrine neoplasia type ILeft adrenal massRare synchronous presentationRight upper lungAdjuvant radiation therapyLi-Fraumeni syndromeGene mutation analysisACC resectionRefractory hypertensionUpper lungBrain metastasesAdrenal massesLeft lobeRare caseRadiation therapySynchronous presentationCarcinomaMenin geneSimilar casesType I
2007
GLIOGENE—an International Consortium to Understand Familial Glioma
Malmer B, Adatto P, Armstrong G, Barnholtz-Sloan J, Bernstein JL, Claus E, Davis F, Houlston R, Il'yasova D, Jenkins R, Johansen C, Lai R, Lau C, McCarthy B, Nielsen H, Olson SH, Sadetzki S, Shete S, Wiklund F, Wrensch M, Yang P, Bondy M. GLIOGENE—an International Consortium to Understand Familial Glioma. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1730-1734. PMID: 17855690, DOI: 10.1158/1055-9965.epi-07-0081.Peer-Reviewed Original ResearchConceptsNew genomic regionsGlioma familiesSingle nucleotide polymorphism (SNP) approachFamilial gliomaGenomic regionsGlioma genesLinkage analysisGenesPolymorphism approachLinkage studiesInternational ConsortiumNorth AmericaFamilyLi-Fraumeni syndromeFamilial aggregationDevastating cancerLociTurcot syndromeGenetic syndromesConsortiumGliomagenesisInherited factorsType 1GliomasTuberous sclerosisSarcomas
Tallini G, Hui P. Sarcomas. 2007, 287-297. DOI: 10.1007/978-0-387-33227-7_26.Peer-Reviewed Original ResearchMalignant fibrous histiocytomaMesenchymal malignanciesRecurrent chromosomal translocationsChromosomal translocationsTherapy-related malignanciesGenetic alterationsLi-Fraumeni syndromeComplex chromosomal abnormalitiesOsteogenic sarcomaPathogenetic typesComplex genetic alterationsFibrous histiocytomaEmbryonal rhabdomyosarcomaMonomorphic proliferationSarcoma typesNeoplastic process
2005
Preimplantation Genetic Diagnosis (PGD) for Heritable Neoplasia
Simpson J, Carson S, Cisneros P. Preimplantation Genetic Diagnosis (PGD) for Heritable Neoplasia. JNCI Monographs 2005, 2005: 87-90. PMID: 15784832, DOI: 10.1093/jncimonographs/lgi027.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiopsyBlastocystBlastomeresCord Blood Stem Cell TransplantationEmbryo TransferFemaleGenetic CounselingGenetic Diseases, InbornGenetic Predisposition to DiseaseGenotypeHLA AntigensHumansInfant, NewbornMaleNeoplasmsPregnancyPregnancy OutcomePreimplantation DiagnosisTruth DisclosureWillsConceptsAdenomatous polyposis coliPreimplantation genetic diagnosisMolecular basisGenetic diagnosisMendelian disordersMendelian formsPolyposis coliEmbryosVon Hippel-Lindau syndromeMore cellsLi-Fraumeni syndromeGametesGenesPolar body biopsyDNADays postconceptionColiTransfer of embryosBlastocystsTrophectoderm biopsyStem cell implantationBRCA1Specific HLA genotypesGenotypesCells
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