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[PMID]:29215340
[Au] Autor:Yakut K; Erdogan I; Varan B; Atar I
[Ad] Endereço:Department of Pediatric Cardiology, Baskent University Ankara Hospital, Ankara, Turkey.
[Ti] Título:A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication.
[So] Source:Balkan Med J;34(6):576-579, 2017 12 01.
[Is] ISSN:2146-3131
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Brugada syndrome is a disease characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death. We present this case with the updated literature to emphasise the need to consider the diagnosis of Brugada syndrome in patients admitted to the emergency ward with sudden cardiac arrest. CASE REPORT: A 16-year-old female patient was admitted to the emergency ward with complaints of weakness and abdominal pain, and she had four cardiac arrests during her evaluation period. She was referred to our clinic for permanent pacemaker implantation. She was on a temporary pace maker after having had C-reactive protein. Her physical exam was normal except for bilaterally decreased lung sounds. Lung x-ray and computed tomography, which were performed by another institution, revealed minimal pleural effusion and nothing else of significance. Blood and peritoneal fluid samples were sterile. Echocardiographic exam and cardiac enzymes were also in the normal ranges. Electrocardiographic showed incomplete right branch block in leads V1 and V2. An ajmaline test revealed specific electrocardiographic findings of the type I Brugada pattern. We proposed implanting an implantable cardioverter defibrillator to the patient as there were positive findings on the ajmaline test as well as a history of sudden cardiac arrest. After this treatment proposal, the patient's family admitted that she had taken a high dose of verapamil and thus, the encountered bradycardia was associated with verapamil overuse. The ajmaline test was repeated as it was contemplated that the previous positive ajmaline test had been associated with verapamil overuse. Implantable cardioverter defibrillator implantation was proposed again as there was a history of sudden cardiac arrest; however, the family did not consent to implantable cardioverter defibrillator, and the patient was discharged and followed up. CONCLUSION: Brugada syndrome should be considered for patients who are admitted to the emergency ward with sudden cardiac arrest though surface electrocardiographic is normal. If there is a suspicion of Brugada syndrome, repeated electrocardiographic should be performed on different occasions. Diagnosis can be clarified by upper costal electrocardiographic or by administering Na channel blockers during electrocardiographic performance.
[Mh] Termos MeSH primário: Antiarrítmicos/envenenamento
Síndrome de Brugada/induzido quimicamente
Parada Cardíaca/induzido quimicamente
Verapamil/envenenamento
[Mh] Termos MeSH secundário: Adolescente
Ajmalina/farmacologia
Síndrome de Brugada/diagnóstico
Síndrome de Brugada/fisiopatologia
Diagnóstico Diferencial
Eletrocardiografia
Feminino
Testes Genéticos
Parada Cardíaca/fisiopatologia
Seres Humanos
Fatores Desencadeantes
Bloqueadores dos Canais de Sódio/administração & dosagem
Tentativa de Suicídio
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Arrhythmia Agents); 0 (Sodium Channel Blockers); 1PON08459R (Ajmaline); CJ0O37KU29 (Verapamil)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.4274/balkanmedj.2016.1301


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[PMID]:29191895
[Au] Autor:Eisenberg R; Varmus H
[Ad] Endereço:University of Michigan Law School, Ann Arbor, MI 48109, USA. rse@umich.edu varmus@med.cornell.edu.
[Ti] Título:Insurance for broad genomic tests in oncology.
[So] Source:Science;358(6367):1133-1134, 2017 12 01.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Análise Mutacional de DNA/economia
Testes Genéticos/economia
Seguro
Neoplasias/genética
[Mh] Termos MeSH secundário: Análise Custo-Benefício
Genes erbB-1
Genômica/economia
Seres Humanos
Oncologia/economia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171202
[St] Status:MEDLINE
[do] DOI:10.1126/science.aao6708


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[PMID]:29205006
[Au] Autor:Zou Y; Guo JJ; Li QP; Zuo DH; Liu JS; Guo YD; Yan J; Zha L; Cai JF; Lan LM
[Ad] Endereço:Department of Forensic Science, School of Basic Medical Sciences, Central South University, Changsha 410013, China.
[Ti] Título:Genetic Polymorphisms of 21 STR Loci in Hunan Province-based Han Population.
[So] Source:Fa Yi Xue Za Zhi;32(5):356-362, 2016 Oct.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To investigate the genetic polymorphisms of 21 short tandem repeat (STR) loci ( , , , , , , , , , , , , , , , , , , , and ). METHODS: A total of 560 blood samples were collected from unrelated healthy individuals of Han population in Hunan Province. Chelex-100 extraction method was applied to the extraction of genomic DNA, and an AGCU EX22 Kit and 9700 STR amplification was used in amplification reactions. The products were separated and analyzed on 310 Genetic Analyzer. RESULTS: A total of 248 alleles were observed, the allelic frequencies ranging from 0.001 to 0.518. Observation of genotype distributions for each locus showed no deviations from Hardy-Weinberg equilibrium except ( =0.023). The combined power of discrimination, combined power of exclusion, and combined matching probability of the 21 STR loci were approximately 0.999 999 999 999 999 999 999 999 8, 0.999 999 998, and 1.36×10⁻²5, respectively. CONCLUSIONS: The 21 STR loci show high polymorphisms in the Han population, which can provide valuable data and a theoretical basis for forensic individual identification and paternity testing.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Genética Populacional
Repetições de Microssatélites
Polimorfismo Genético
[Mh] Termos MeSH secundário: Alelos
China
Impressões Digitais de DNA
Frequência do Gene
Testes Genéticos
Genótipo
Seres Humanos
Reação em Cadeia da Polimerase
Probabilidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2016.05.010


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[PMID]:29325267
[Au] Autor:Shen JD; Wu W; Shu L; Cai LL; Xie JZ; Ma L; Sun XP; Cui YG; Liu JY
[Ad] Endereço:The Center of Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing 210029, China.
[Ti] Título:[Analysis of clinical outcomes of different embryo stage biopsy in array comparative genomic hybridization based preimplantation genetic diagnosis and screening].
[So] Source:Zhonghua Fu Chan Ke Za Zhi;52(12):828-834, 2017 Dec 25.
[Is] ISSN:0529-567X
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles. Chromosomal analysis was performed by array-CGH technology combined with whole genome amplification. Single embryo transfer was performed in all transfer cycles. Live birth rate was calculated as the main clinical outcomes. The embryo diagnosis rate of PGD/PGS by array-CGH were 96.9%-99.1%. In PGD biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were 50.0%(58/116) and 37.2%(58/156) in cleavage-stage-biopsy group, 67.5%(85/126) and 51.8%(85/164) in trophectoderm-biopsy group (both 0.01). In PGS biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were the same as 34.8%(8/23) in cleavage-stage-biopsy group, the same as 42.1%(16/38) in trophectoderm-biopsy group (both 0.05). High diagnosis rate and idea live birth rate are achieved in PGD/PGS cycles based on array-CGH technology. The live birth rate of trophectoderm-biopsy group is significantly higher than that of cleavage-stage-biopsy group in PGD cycles; the efficiency of trophectoderm-biopsy is better.
[Mh] Termos MeSH primário: Hibridização Genômica Comparativa
Implantação do Embrião/genética
Implantação do Embrião/fisiologia
Transferência Embrionária/métodos
Testes Genéticos
Diagnóstico Pré-Implantação/métodos
Análise de Sequência de DNA/métodos
[Mh] Termos MeSH secundário: Biópsia
Técnicas de Cultura Embrionária
Feminino
Seres Humanos
Gravidez
Estudos Retrospectivos
Transferência de Embrião Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180112
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-567x.2017.12.007


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[PMID]:29178651
[Au] Autor:Laurino MY; Truitt AR; Tenney L; Fisher D; Lindor NM; Veenstra D; Jarvik GP; Newcomb PA; Fullerton SM
[Ad] Endereço:Cancer Prevention Program, Seattle Cancer Care Alliance, Seattle, Washington, USA.
[Ti] Título:Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.
[So] Source:Mol Genet Genomic Med;5(6):700-708, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The extent to which participants act to clinically verify research results is largely unknown. This study examined whether participants who received Lynch syndrome (LS)-related findings pursued researchers' recommendation to clinically verify results with testing performed by a CLIA-certified laboratory. METHODS: The Fred Hutchinson Cancer Research Center site of the multinational Colon Cancer Family Registry offered non-CLIA individual genetic research results to select registry participants (cases and their enrolled relatives) from 2011 to 2013. Participants who elected to receive results were counseled on the importance of verifying results at a CLIA-certified laboratory. Twenty-six (76.5%) of the 34 participants who received genetic results completed 2- and 12-month postdisclosure surveys; 42.3% of these (11/26) participated in a semistructured follow-up interview. RESULTS: Within 12 months of result disclosure, only 4 (15.4%) of 26 participants reported having verified their results in a CLIA-certified laboratory; of these four cases, all research and clinical results were concordant. Reasons for pursuing clinical verification included acting on the recommendation of the research team and informing future clinical care. Those who did not verify results cited lack of insurance coverage and limited perceived personal benefit of clinical verification as reasons for inaction. CONCLUSION: These findings suggest researchers will need to address barriers to seeking clinical verification in order to ensure that the intended benefits of returning genetic research results are realized.
[Mh] Termos MeSH primário: Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico
Testes Genéticos
[Mh] Termos MeSH secundário: Adulto
Idoso
Neoplasias Colorretais Hereditárias sem Polipose/genética
Neoplasias Colorretais Hereditárias sem Polipose/psicologia
Proteínas de Ligação a DNA/genética
Família
Feminino
Pesquisa em Genética
Testes Genéticos/normas
Seres Humanos
Cobertura do Seguro
Laboratórios/normas
Masculino
Meia-Idade
Endonuclease PMS2 de Reparo de Erro de Pareamento/genética
Proteína 1 Homóloga a MutL/genética
Proteína 2 Homóloga a MutS/genética
Sistema de Registros
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (MLH1 protein, human); 0 (Msh6 protein, mouse); EC 3.6.1.- (PMS2 protein, human); EC 3.6.1.3 (MSH2 protein, human); EC 3.6.1.3 (Mismatch Repair Endonuclease PMS2); EC 3.6.1.3 (MutL Protein Homolog 1); EC 3.6.1.3 (MutS Homolog 2 Protein)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.328


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[PMID]:29428045
[Au] Autor:White VB; Walsh KK; Foss KS; Amacker-North L; Lenarcic S; McNeely L; White RL
[Ti] Título:Genetic Testing for Hereditary Breast Cancer: The Decision to Decline.
[So] Source:Am Surg;84(1):154-160, 2018 Jan 01.
[Is] ISSN:1555-9823
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Genetic testing is important for comprehensive cancer care. Commercial analysis of the BRCA1/2 genes has been available since 1996, and testing for hereditary breast and ovarian cancer syndrome is well established. The National Comprehensive Cancer Network (NCCN) guidelines identify individuals for whom BRCA1/2 analysis is appropriate and define management recommendations for mutation carriers. Despite recommendations, not all who meet NCCN criteria undergo genetic testing. We assess the frequency that individuals meeting NCCN criteria decline BRCA1/2 analysis, as well as factors that affect the decision-making process. A retrospective chart review was performed from September 2013 through August 2014 of individuals who received genetic counseling at the Levine Cancer Institute. A total of 1082 individuals identified through the retrospective chart review met NCCN criteria for BRCA1/2 analysis. Of these, 267 (24.7%) did not pursue genetic testing. Of the Nontested cohort, 59 (22.1%) were disinterested in testing and 108 (40.4%) were advised to gather additional genetic or medical information about their relatives before testing. The remaining 100 (37.5%) individuals were insured and desired to undergo genetic testing but were prohibited by the expense. Eighty five of these 100 patients were responsible for the total cost of the test, whereas the remaining 15 faced a prohibitive copay expense. Financial concerns are a major deterrent to the pursuit of BRCA1/2 analysis among those who meet NCNN criteria, especially in patients diagnosed with breast or ovarian cancer. These findings highlight the need to address financial concerns for genetic testing in this high-risk population.
[Mh] Termos MeSH primário: Proteína BRCA1/genética
Proteína BRCA2/genética
Biomarcadores Tumorais/genética
Neoplasias da Mama/genética
Tomada de Decisões
Testes Genéticos
Cooperação do Paciente
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Análise Mutacional de DNA
Feminino
Aconselhamento Genético
Seres Humanos
Masculino
Meia-Idade
Linhagem
Medição de Risco
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA1 Protein); 0 (BRCA1 protein, human); 0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (Biomarkers, Tumor)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180212
[St] Status:MEDLINE


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[PMID]:29390378
[Au] Autor:Zhang Y; Lian Y; Xie N
[Ad] Endereço:Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
[Ti] Título:Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.
[So] Source:Medicine (Baltimore);96(50):e9273, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE. PATIENT CONCERNS: A 6-year-old girl developed epileptic seizures 3 days after birth. She presented with multiple seizure types including myoclonic seizures, spasms, and absence seizures. Serial electroencephalographic examinations showed variable abnormalities, and intellectual evaluation revealed significant development retardation. Conventional antiepileptic drugs were ineffective for the seizure controlling. Genetic screening identified a novel nonsense mutation (C.5G > A, p.W2X) in the GABRB3 gene. DIAGNOSES: Early onset epileptic encephalopathy. INTERVENTIONS: We changed the antiepileptic strategy to oral clonazepam (0.5mg twice daily). The patient was followed up once a week and significant declining in the attack frequency was noted 1 week later (2-3 times daily). Subsequently, the dosage was doubled (1mg twice daily), and complete cessation of seizures was achieved 20 days later. OUTCOMES: Through a 9-month follow up,the girl remained seizure-free. LESSONS: This study identified a novel nonsensemutation (C.5G>A) in the exon 1 of GABRB3 Gene, which may be associated with EOEE. To our knowledge, this is the first report to use clonazepam in the patient with GABRB3-related EOEE with favorable outcome. Our finding suggested that clonazepam might be a choice for patient with GABRB3-related EOEE. The remarkable efficacy of clonazepam in the control of seizures indicated a potential GABRB3- or GABA-related mechanism involved in the development of EOEE.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Clonazepam/uso terapêutico
Epilepsia/tratamento farmacológico
Epilepsia/genética
Receptores de GABA-A/genética
[Mh] Termos MeSH secundário: Idade de Início
Criança
Códon sem Sentido
Análise Mutacional de DNA
Deficiências do Desenvolvimento
Eletroencefalografia
Feminino
Predisposição Genética para Doença
Testes Genéticos
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Codon, Nonsense); 0 (GABRB3 protein, human); 0 (Receptors, GABA-A); 5PE9FDE8GB (Clonazepam)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009273


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[PMID]:29384342
[Au] Autor:Felzmann H
[Ti] Título:'Just a Bit of Fun': How Recreational is Direct-to-Customer Genetic Testing?
[So] Source:New Bioeth;21(1):20-32, 2015.
[Is] ISSN:2050-2885
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Direct to consumer (DTC) genetic testing has given rise to much controversy, especially in relation to testing for health diagnostic purposes. This paper will consider whether consumers' use of DTC genetic testing should be understood as predominantly recreational. It will be argued that recreational testing can encompass all information domains, including most kinds of predictive health risk information. In relation to recreational testing the potential identity implications for the consumer become a significant concern, more so than the risks more traditionally associated with genetic testing. It will be concluded that while the DTC genetic testing sector is beset by numerous problems and an increase in consumers' genetic literacy is highly desirable, consumers' engagement with DTC genetic testing may be less problematic than sometimes assumed.
[Mh] Termos MeSH primário: Triagem e Testes Direto ao Consumidor
Testes Genéticos
Recreação
[Mh] Termos MeSH secundário: Seres Humanos
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:E; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE


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[PMID]:28464943
[Au] Autor:Nielsen DE; Carere DA; Wang C; Roberts JS; Green RC; PGen Study Group
[Ad] Endereço:Division of Genetics, Department of Medicine, Brigham and Women's Hospital, EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston, MA, 02115, USA.
[Ti] Título:Diet and exercise changes following direct-to-consumer personal genomic testing.
[So] Source:BMC Med Genomics;10(1):24, 2017 May 02.
[Is] ISSN:1755-8794
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT and to determine if changes were associated with genetic test results obtained from PGT. METHODS: Customers of 23andMe and Pathway Genomics completed a web-based survey prior to receiving PGT results (baseline) and 6 months post-results. Fruit and vegetable intake (servings/day), and light, vigorous and strength exercise frequency (days/week) were assessed. Changes in diet and exercise were examined using paired t-tests and linear regressions. Additional analyses examined whether outcomes differed by baseline self-reported health (SRH) or content of PGT results. RESULTS: Longitudinal data were available for 1,002 participants. Significant increases were observed for vegetable intake (mean Δ = 0.11 (95% CI = 0.05, 0.17), p = 0.0003) and strength exercise (Δ = 0.14 (0.03, 0.25), p = 0.0153). When stratified by SRH, significant increases were observed for all outcomes among lower SRH participants: fruit intake, Δ = 0.11 (0.02, 0.21), p = 0.0148; vegetable intake, Δ = 0.16 (0.07, 0.25), p = 0.0005; light exercise, Δ = 0.25 (0.03, 0.47), p = 0.0263; vigorous exercise, Δ = 0.23 (0.06, 0.41), p = 0.0097; strength exercise, Δ = 0.19 (0.01, 0.37), p = 0.0369. A significant change among higher SRH participants was only observed for light exercise, and in the opposite direction: Δ = -0.2468 (-0.06, -0.44), p = 0.0111. Genetic results were not consistently associated with any diet or exercise changes. CONCLUSIONS: The experience of PGT was associated with modest, mostly positive changes in diet and exercise. Associations were independent of genetic results from PGT.
[Mh] Termos MeSH primário: Dieta
Triagem e Testes Direto ao Consumidor/psicologia
Exercício
Testes Genéticos
Conhecimentos, Atitudes e Prática em Saúde
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Genômica
Seres Humanos
Masculino
Meia-Idade
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s12920-017-0258-1


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[PMID]:27779110
[Au] Autor:Eliade M; Skrzypski J; Baurand A; Jacquot C; Bertolone G; Loustalot C; Coutant C; Guy F; Fumoleau P; Duffourd Y; Arnould L; Delignette A; Padéano MM; Lepage C; Raichon-Patru G; Boudrant A; Bône-Lépinoy MC; Villing AL; Charpin A; Peignaux K; Chevrier S; Vegran F; Ghiringhelli F; Boidot R; Sevenet N; Lizard S; Faivre L
[Ad] Endereço:Centre of Genetic, Children Hospital, CHU, Dijon, France.
[Ti] Título:The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
[So] Source:Oncotarget;8(2):1957-1971, 2017 Jan 10.
[Is] ISSN:1949-2553
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes. We studied 583 consecutive patients from Burgundy (France) fulfilling the criteria for BRCA testing using a next generation sequencing 25-genes panel including 20 well-established high-risk cancer genes as well as more recently identified predisposing HBOC cancer. A pathogenic BRCA1/2 mutation was found in 51 patients (9%). Besides, we found 37 pathogenic or likely pathogenic mutations in 10 different high to low-risk genes in 34 patients (6%). The most frequently mutated genes were CHEK2 (n = 12; 2%), ATM (n = 9; 1.5%), and PALB2 (n = 4; 0.6%). Three patients had a mutation in two different predisposing genes. The analysis of clinical actionability conducted in mutation-positive individuals revealed that additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone had been recommended in 69% of cases. In conclusion, multigene panel testing is a powerful tool to identifying high to low-risk HBOC susceptibility genes. The penetrance and spectrum of cancers with these other genes are sometimes undefined, and further collaborative work is crucial to address this question.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Testes Genéticos
Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico
Padrões de Prática Médica
Transcriptoma
Pesquisa Médica Translacional
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos de Coortes
Prática Clínica Baseada em Evidências
Feminino
França/epidemiologia
Regulação Neoplásica da Expressão Gênica
Frequência do Gene
Predisposição Genética para Doença
Testes Genéticos/métodos
Testes Genéticos/normas
Testes Genéticos/estatística & dados numéricos
Síndrome Hereditária de Câncer de Mama e Ovário/genética
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Meia-Idade
Linhagem
Relações Médico-Paciente
Guias de Prática Clínica como Assunto/normas
Padrões de Prática Médica/normas
Padrões de Prática Médica/estatística & dados numéricos
Relações Profissional-Família
Pesquisa Médica Translacional/normas
Pesquisa Médica Translacional/estatística & dados numéricos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180223
[Lr] Data última revisão:
180223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.12699



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