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
2004
Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients
Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.Peer-Reviewed Original ResearchConceptsBreast cancerOvarian cancerBRCA2 mutationsFamily historyYounger ageKorean breast cancer patientsKorean womenIncidence of BRCA1Breast cancer patientsAge 40 yearsPrevalence of BRCA1Paraffin-embedded tissue blocksKorean patientsPeripheral bloodCancer patientsEtiologic factorsP53 overexpressionBreast carcinomaImmunohistochemical stainingPatientsKorean populationBRCA genesCancerUnknown significanceCyclin D1
2003
BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer
Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco MA, Bale A, Haffty BG. BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer. The Breast Journal 2003, 9: 167-174. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiomarkers, TumorBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCohort StudiesFemaleGenetic Predisposition to DiseaseHumansImmunohistochemistryMutationNeoplasm Recurrence, LocalPremenopauseProliferating Cell Nuclear AntigenReceptor, ErbB-2Receptors, EstrogenReceptors, ProgesteroneTumor Suppressor Protein p53ConceptsHER-2/neuEstrogen receptorProgesterone receptorBRCA-1BRCA-2Breast cancerBRCA mutationsProliferating Cell Nuclear AntigenMolecular biologic markersPremenopausal breast cancerBRCA-1 mutationsBreast-conserving surgeryWide local excisionBreast cancer patientsPrimary breast tumor tissuesAvailable paraffin blocksBRCA-2 genesBreast tumor tissuesFamilial breast cancerCell nuclear antigenAxillary dissectionPR negativityPremenopausal womenLocal relapseSystemic therapy
2002
Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status
Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 2002, 359: 1471-1477. PMID: 11988246, DOI: 10.1016/s0140-6736(02)08434-9.Peer-Reviewed Original ResearchConceptsSecond primary tumorsContralateral breast cancerBreast cancerPrimary tumorBRCA1/2 statusEarly-stage breast cancerYoung womenEarly-onset breast cancerBreast-conserving therapyAge 42 yearsBreast-conserving surgeryLong-term riskGermline BRCA1/2 statusUnderwent lumpectomyPrimary endpointBilateral mastectomySecond cancersSecond tumorContralateral eventsProphylactic agentHigh riskOutcome dataGenetic predispositionSporadic diseaseCancerLow frequency of recurrent BRCA1 and BRCA2 mutations in Spain
Llort G, Muñoz CY, Tuser MP, Guillermo IB, Lluch JR, Bale AE, Franco MA. Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Human Mutation 2002, 19: 307-307. PMID: 11857748, DOI: 10.1002/humu.9014.Peer-Reviewed Original ResearchConceptsOvarian cancer familiesBreast/ovarian cancer familiesCancer familiesBRCA2 mutationsDifferent BRCA mutationsFounder mutationHereditary breast cancerStudies of breastSpanish breast/ovarian cancer familiesBRCA mutationsBreast cancerRecurrent BRCA1BRCA1 185delAGSubstantial proportionNovel mutationsBRCA1Previous reportsMutational spectrumBRCA2Spanish familiesEthnic groupsMutations
2001
Correlations between BRCA status, molecular markers and clinical variables in early onset conservatively managed breast cancer
Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco M, Bale A, Haffty B. Correlations between BRCA status, molecular markers and clinical variables in early onset conservatively managed breast cancer. International Journal Of Radiation Oncology • Biology • Physics 2001, 51: 193. DOI: 10.1016/s0360-3016(01)02175-7.Peer-Reviewed Original Research