2023
FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2022
Germline testing and genetic counselling in prostate cancer
Russo J, Giri V. Germline testing and genetic counselling in prostate cancer. Nature Reviews Urology 2022, 19: 331-343. PMID: 35449224, PMCID: PMC9022414, DOI: 10.1038/s41585-022-00580-7.Peer-Reviewed Original ResearchConceptsProstate cancerCancer risk managementCancer riskGenetic testingHereditary cancer predisposition syndromesPre-test discussionUnique clinical featuresGermline pathogenic variantsPrecision medicineHealth care professionalsComplex management optionsAdditional cancer riskCancer predisposition syndromeHereditary cancer riskGenetic counsellingGermline testingMetastatic diseaseClinical featuresOptimal careMedical historyFamily historyPathogenic variantsPrecision therapyGene testingCancer
2017
A 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 relatives
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