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1.
Rev Neurol (Paris) ; 180(7): 655-660, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38705796

RESUMO

BACKGROUND: There is little consensus on how to make a diagnosis announcement of severe chronic disease in neurology. Other medical specialties, such as oncology, have developed assessment methods similar to the Objective Structured Clinical Examination (OSCE) to address this issue. Here we report the implementation of an OSCE focused on the diagnosis announcement of chronic disease in neurology by residents. OBJECTIVE: We aimed to evaluate the acceptability, feasibility and validity in routine practice of an OSCE combined with a theoretical course focused on diagnosis announcement in neurology. METHOD: Eighteen neurology residents were prospectively included between 2019 and 2022. First, they answered a questionnaire on their previous level of training in diagnosis announcement. Second, in a practical session with a simulated patient, they made a 15-min diagnosis announcement and then had 5mins of immediate feedback with an expert observer, present in the room. The OSCE consisted of 4 different stations, with standardized scenarios dedicated to the announcement of multiple sclerosis (MS), Parkinson's disease (PD), Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS). Third, in a theory session, expert observers covered the essential theoretical points. All residents and expert observers completed an evaluation of the "practical session" and the "theory session". RESULTS: Residents estimated their previous level of diagnosis announcement training at 3.1/5. The most feared announcements were AD and ALS. The "practical session" was rated at a mean of 4.1/5 by the residents and 4.8/5 by the expert observers, and the "theory session" at a mean of 4.7/5 by the residents and 5/5 by the expert observers. After the OSCEs, 11 residents felt more confident about making an announcement. CONCLUSION: This study has shown a benefit of using an OSCE to learn how to make a diagnosis announcement of severe chronic disease in neurology. OSCEs could be used in many departments in routine practice and seem adapted to residents.


Assuntos
Avaliação Educacional , Internato e Residência , Doenças do Sistema Nervoso , Neurologia , Humanos , Neurologia/normas , Neurologia/educação , Internato e Residência/normas , Doenças do Sistema Nervoso/diagnóstico , Avaliação Educacional/métodos , Doença Crônica , Masculino , Feminino , Adulto , Competência Clínica/normas , Estudos Prospectivos , Inquéritos e Questionários
2.
Rev Neurol (Paris) ; 179(8): 910-913, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37301658

RESUMO

Sensory neuronopathies name the degeneration of peripheral sensory neurons in dorsal root ganglia. Among the genetic causes, CANVAS could be the most frequent. CANVAS is a clinical entity associating cerebellar ataxia, sensory neuronopathy and vestibular areflexia due to biallelic expansions in RFC1. This study reports the 18 individuals with sensory neuronopathy tested for RFC1 expansion in our center. The clinical picture showed that chronic cough was a frequent sign beginning before the onset of other symptoms. CANVAS is an underestimated cause of late-onset sensory and cerebellar ataxia that needs to be tested for widely now that the molecular cause is known.


Assuntos
Ataxia Cerebelar , Doenças do Sistema Nervoso Periférico , Humanos , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/genética , Ataxia/etiologia , Ataxia/genética , Síndrome , Exame Neurológico
3.
Mol Psychiatry ; 22(8): 1119-1125, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-27956742

RESUMO

To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurrent rearrangement was a 17q21.31 microduplication, overlapping the CRHR1, MAPT, STH and KANSL1 genes that was found in four cases, including one de novo rearrangement, and was absent in controls. The increased MAPT gene dosage led to a 1.6-1.9-fold expression of the MAPT messenger RNA. Clinical signs, neuroimaging and cerebrospinal fluid biomarker profiles were consistent with an AD diagnosis in MAPT duplication carriers. However, amyloid positon emission tomography (PET) imaging, performed in three patients, was negative. Analysis of an additional case with neuropathological examination confirmed that the MAPT duplication causes a complex tauopathy, including prominent neurofibrillary tangle pathology in the medial temporal lobe without amyloid-ß deposits. 17q21.31 duplication is the genetic basis of a novel entity marked by prominent tauopathy, leading to early-onset dementia with an AD clinical phenotype. This entity could account for a proportion of probable AD cases with negative amyloid PET imaging recently identified in large clinical series.


Assuntos
Doença de Alzheimer/genética , Cromossomos Humanos Par 17/genética , Demência/genética , Idoso , Encéfalo/metabolismo , Estudos de Casos e Controles , Variações do Número de Cópias de DNA/genética , Feminino , Dosagem de Genes , Duplicação Gênica/genética , Humanos , Masculino , Pessoa de Meia-Idade , Emaranhados Neurofibrilares/patologia , Neuroimagem , Tauopatias/genética , Proteínas tau/genética , Proteínas tau/metabolismo
4.
J Postgrad Med ; 2018 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-30588926

RESUMO

Transient ischemic attacks (TIAs) typically present with easily recognizable neurological focal deficits. Symptoms such as paroxysmal involuntary movements are not usually considered to be a manifestation of TIA. We report a case with video documentation of TIA due to permanent atrial flutter presenting as acute left hemichorea. To our knowledge, such a case has not yet been reported. The present case constitutes a crucial diagnostic challenge in neurological practice in order to prevent a high risk of subsequent ischemic stroke.

7.
Rev Neurol (Paris) ; 168(2): 181-6, 2012 Feb.
Artigo em Francês | MEDLINE | ID: mdl-22033111

RESUMO

INTRODUCTION: Fabry's disease is a X-linked lysosomal storage disorder caused by an alpha-galactosidase A deficiency responsible for the accumulation of glycosphingolipids. Males are more severely and frequently affected than females. We report the case of a female who presented a stroke revealing Fabry's disease. CASE REPORT: An 53-year-old woman, with cardiovascular risk factors and two previous transient ischemic attacks, was admitted with a brutal right hemiparisia. Cerebral MRI showed multiple white matter lesions in the cerebral hemispheres with multiple lacunar infarcts and ectatic vessels, cardiac echography revealed a hypertrophic concentric cardiomyopathy, and slit-lamp examination demonstrated a cornea verticillata. The sequencing of the alpha-galactosidase gene (GLA) revealed the c.150_151del mutation responsible for a loss of function. DISCUSSION: As in the present case, ophthalmological examination is very useful to determine Fabry's disease as a cause of young onset stroke. Females may be affected by X-linked disease, as the Fabry's disease. Fabry's disease among females is mainly characterized by the involvement of the nervous and cardiovascular systems. The specific treatment is based on an enzyme replacement therapy by recombinant enzyme with cardiovascular benefit. Despite the presence of cardiovascular risk factors, this case demonstrates the importance of thorough standardized investigations including ophthalmological examination of young patients with stroke.


Assuntos
Doenças da Córnea/complicações , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Ataque Isquêmico Transitório/complicações , Acidente Vascular Cerebral/complicações , Doenças da Córnea/diagnóstico , Doenças da Córnea/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Ataque Isquêmico Transitório/diagnóstico , Ataque Isquêmico Transitório/etiologia , Pessoa de Meia-Idade , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/etiologia
8.
Clin Neuropathol ; 29(6): 361-4, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21073839

RESUMO

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder due to a deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP 27) with reduced or no chenodeoxycholic synthesis. This deficiency leads to an accumulation of cholestanol in different sites such as the eye lens, central nervous system or tendons. We report a 64-year-old female patient with a progressive gait disorder associated with cognitive decline since the age of 59. The patient had no mental retardation, cataract or chronic diarrhea. Her family reported increasing behavioral modifications 10 years previously. Clinical examination revealed a spastic paraplegia and bilateral xanthomas on the Achilles tendons. Cerebral magnetic resonance imaging (MRI) revealed diffuse hyperintense T2 abnormalities in the pyramidal tracts from the internal capsules to the cerebral peduncles also Technetium-99m-ECD brain SPECT showed a severe cerebellar hypoperfusion. Serum cholestanol analysis was 7 µmol/l (N). After 2 years, she was bedridden and died of aspiration pneumonia. The neuropathological study confirmed the CTX diagnosis and the sequencing analysis revealed that she was compound heterozygous for two mutations in the CYP27A1 gene: 1435 C > T (exon 7) on one allele and a new mutation, 1017 G > C (exon 5) on the other. The interest of the present case is to report neuropathology findings strongly correlated with the MRI and SPECT abnormalities.


Assuntos
Xantomatose Cerebrotendinosa/diagnóstico , Xantomatose Cerebrotendinosa/patologia , Colestanotriol 26-Mono-Oxigenase/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Tomografia Computadorizada de Emissão de Fóton Único , Xantomatose Cerebrotendinosa/genética
9.
Rev Neurol (Paris) ; 166(5): 534-7, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20070997

RESUMO

INTRODUCTION: Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1). Mutations of ABCA1 lead to a defect in cellular cholesterol removal and to deposition of cholesterol esters throughout the body. OBSERVATION: We report here on the case of a 53-year-old woman with a severe phenotype of TD. The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia. CONCLUSION: This family demonstrates the wide intrafamilial phenotype diversity of TD.


Assuntos
Doença de Tangier/genética , Doença de Tangier/patologia , Transportador 1 de Cassete de Ligação de ATP , Transportadores de Cassetes de Ligação de ATP/genética , Biópsia , Doenças Desmielinizantes/patologia , Eletrocardiografia , Eletroencefalografia , Eletromiografia , Feminino , Hormônios/sangue , Humanos , Lipídeos/sangue , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Fenótipo , Células de Schwann/patologia , Células Receptoras Sensoriais/patologia , Doença de Tangier/líquido cefalorraquidiano , Gêmeos Dizigóticos
10.
Rev Neurol (Paris) ; 165(3): 223-31, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19081588

RESUMO

We propose a review devoted to the autosomal dominant forms of Alzheimer disease (AD). These forms are the consequences of either PSEN1 mutations (69%), APP mutations (1%), or APP duplication (7.5%), and exceptionally of PSEN2 mutations (2%). The main characteristic of these AD forms is the early age of onset usually before the age of 60 years. The first part of the review focuses on the identification of unusual clinical and neuropathological phenotypes enlarging the AD spectrum: intracerebral hemorrhages caused by severe amyloid angiopathy, spastic paraparesis, Lewy body dementia and exceptional cerebellar ataxia. The second part concerns the consequences of these mutations on A beta processing, thus demonstrating the key role of the causal "amyloid cascade".


Assuntos
Doença de Alzheimer/genética , Transtornos Cromossômicos/genética , Genes Dominantes/genética , Idade de Início , Idoso , Doença de Alzheimer/fisiopatologia , Precursor de Proteína beta-Amiloide/genética , Precursor de Proteína beta-Amiloide/metabolismo , Transtornos Cromossômicos/fisiopatologia , Humanos , Pessoa de Meia-Idade , Mutação/fisiologia , Fenótipo , Presenilina-1/genética , Presenilina-2/genética
11.
Cephalalgia ; 28(7): 774-7, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18498390

RESUMO

We studied four members of a family suffering from typical attacks of familial hemiplegic migraine (FHM) caused by a new mutation, R548C, of ATP1A2 gene in exon 12. One individual had also childhood absence epilepsy and generalized tonic-clonic seizures (GTCS). GTCS were followed by a severe attack of hemiplegic migraine at four times. Sodium valproate enabled control of both the epileptic seizures and the most severe FHM attacks. This association of FHM and epileptic seizures and their control with the same treatment suggest similar pathophysiological mechanisms.


Assuntos
Epilepsia Tipo Ausência/genética , Epilepsia Tônico-Clônica/genética , Enxaqueca com Aura/genética , Mutação de Sentido Incorreto , ATPase Trocadora de Sódio-Potássio/genética , Adulto , Alelos , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tônico-Clônica/diagnóstico , Éxons/genética , Feminino , Humanos , Masculino , Enxaqueca com Aura/diagnóstico , Linhagem , Fenótipo
12.
J Med Genet ; 43(5): 394-400, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16227522

RESUMO

BACKGROUND: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. METHODS: We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea. All coding exons of the SGCE gene were analysed. The DYT1 mutation was also tested. RESULTS: Sixteen index cases had SGCE mutations while one case with primary myoclonic dystonia carried the DYT1 mutation. Thirteen different mutations were found: three nonsense mutations, three missense mutations, three splice site mutations, three deletions, and one insertion. Eleven of the SGCE index cases had M-D and five E-M. No SGCE mutations were detected in patients with other phenotypes. The total number of mutation carriers in the families was 38, six of whom were asymptomatic. Penetrance was complete in paternal transmissions and null in maternal transmissions. MDS patients with SGCE mutation had a significantly earlier onset than the non-carriers. None of the patients had severe psychiatric disorders. CONCLUSION: This large cohort of index patients shows that SGCE mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M).


Assuntos
Distúrbios Distônicos/diagnóstico , Mutação , Mioclonia/diagnóstico , Sarcoglicanas/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Coreia/diagnóstico , Coreia/genética , Cromossomos Humanos Par 7 , Estudos de Coortes , Análise Mutacional de DNA , Distúrbios Distônicos/genética , Feminino , França , Testes Genéticos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Chaperonas Moleculares/genética , Mioclonia/genética , Fenótipo , Síndrome
13.
J Med Genet ; 42(10): 793-5, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16033913

RESUMO

BACKGROUND: Autosomal dominant early onset Alzheimer's disease (ADEOAD) is genetically heterogeneous. Mutations of the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes have been identified. OBJECTIVE: To further clarify the respective contribution of these genes to ADEOAD. METHODS: 31 novel families were investigated. They were ascertained using stringent criteria (the occurrence of probable or definite cases of Alzheimer's disease with onset before 60 years of age in three generations). All cases fulfilled the NINCDS-ADRDA criteria for probable or definite Alzheimer's disease. The entire coding regions of PSEN1 and PSEN2 genes and exons 16 and 17 of APP gene were sequenced from genomic DNA RESULTS: PSEN1 mutations, including eight previously unreported mutations, were detected in 24 of the 31 families, and APP mutations were found in five families. In this sample, the mean ages of disease onset in PSEN1 and APP mutation carriers were 41.7 and 51.2 years, respectively. CONCLUSIONS: Combining these data with previously published data, yielding 65 ADEOAD families, 66% of the cases were attributable to PSEN1 mutations and 16% to APP mutations, while 18% remained unexplained.


Assuntos
Idade de Início , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Técnicas de Diagnóstico Molecular , Adulto , Idoso , Amiloide/química , Éxons , Saúde da Família , Genes Dominantes , Humanos , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Mutação , Presenilina-1 , Presenilina-2
14.
Neurochirurgie ; 61(6): 385-91, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26597604

RESUMO

OBJECTIVES: Familial predisposition appears as an identified risk factor for cerebrovascular disease. The primary objective of our study was to assess intracranial aneurysm (IA) recurrence rate in a population of familial IA. Secondary objectives were first to analyse the inheritance categorisation/pattern of these families and second to assess the correlation between the aortic diameter on MRI and the aneurysmal characteristics. PATIENTS AND METHODS: Over a period of 20 years (1990-2010), 26 patients from 23 families, identified from a regional register, accepted to participate in this prospective trial in order to determine, the inheritance pattern, the screening of de novo aneurysms by CT angioscan, and the aortic mensuration by MRI. The transmission pattern was categorised into autosomal dominant inheritance, autosomal recessive and autosomal dominance with incomplete penetrance. The aortic diameter was measured: anatomic coverage in the caudo-cranial direction from the iliac arteries to the ventriculo-aortic junction. RESULTS: All 26 patients [from 55.4 ± 11.2 years, sex ratio female/male: 1.36] were reviewed after a mean follow-up of 7.9 ± 6.6 years after the diagnosis of a cerebral aneurysm. The characteristics of this population were the diagnostic circumstances such as a subarachnoid hemorrhage (SAH) in 14 (53.8%), the multiple locations in 10 (38.5%) and a giant aneurysm in 4 (15.4%). Four de novo aneurysms were diagnosed in 3 patients (11.5%) after a mean follow-up of 22.3 ± 4 years, which corresponds to an annual incidence of 1.9 (95% CI 1.4-2.6%). The transmission pattern was autosomal dominant in 16 (61.5%), recessive in 3 (11.5%) and not defined in 7 (26.9%). As regards the aortic diameter, a significant decrease in the aortic diameter was observed in patients with an aneurysmal diameter superior to 10mm. CONCLUSION: The rate of de novo aneurysm justifies prolonged monitoring by imaging of these patients with familial intracranial aneurysm. The narrowing of the terminal part of the aorta could be a hemodynamic factor involved into the IA development.


Assuntos
Aorta/anatomia & histologia , Aneurisma Intracraniano/genética , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tamanho do Órgão , Estudos Prospectivos
18.
Neurology ; 73(14): 1111-9, 2009 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-19805727

RESUMO

OBJECTIVE: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. METHODS: We analyzed all exons of SPG15/ZFYVE26 gene by direct sequencing in a series of 60 non-SPG11 HSP subjects with associated mental or MRI abnormalities, including 30 isolated cases. The clinical data were collected through the SPATAX network. RESULTS: We identified 13 novel truncating mutations in ZFYVE26, 12 of which segregated at the homozygous or compound heterozygous states in 8 new SPG15 families while 1 was found at the heterozygous state in a single family. Two of 3 splice site mutations were validated on mRNA of 2 patients. The SPG15 phenotype in 11 affected individuals was characterized by early onset HSP, severe progression of the disease, and mental impairment dominated by cognitive decline. Thin corpus callosum and white matter hyperintensities were MRI hallmarks of the disease in this series. CONCLUSIONS: The mutations are truncating, private, and distributed along the entire coding sequence of ZFYVE26, which complicates the analysis of this gene in clinical practice. In our series of patients with hereditary spastic paraplegia-thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. Both forms share similar clinical and imaging presentations with very few distinctions, which are, however, insufficient to infer the molecular diagnosis when faced with a single patient.


Assuntos
Proteínas de Transporte/genética , Corpo Caloso/patologia , Mutação , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/patologia , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Corpo Caloso/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia por Emissão de Pósitrons/métodos , Índice de Gravidade de Doença , Paraplegia Espástica Hereditária/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos
19.
Neurology ; 70(13): 1010-6, 2008 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-18362280

RESUMO

OBJECTIVE: To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene. METHODS: We prospectively studied 41 consecutive patients from 22 families with documented mutations of the SGCE gene. The patients had a standardized interview, neurologic examination, and detailed neurophysiologic examination, including surface polymyography, long-loop C-reflex studies, and EEG jerk-locked back averaging. RESULTS: We noted a homogeneous electrophysiologic pattern of myoclonus of subcortical origin with short jerks (mean 95 msec, range 25 to 256 msec) at rest, during action, and during posture; there were no features of cortical hyperexcitability (specifically no abnormal C-reflex response and no short-latency premyoclonic potential on back-averaging studies). Myoclonus was either isolated or associated with mild to moderate dystonia, and predominated in the neck/trunk or proximal upper limbs in most cases. We found that 22% of the patients had a spontaneous improvement in their dystonia before reaching adulthood and that hypotonia can occasionally be a presenting symptom of the disorder. CONCLUSION: We describe the myoclonus in patients with mutations in the SGCE gene and characterize the electrophysiologic pattern of this myoclonus. This pattern may help to improve the sensitivity of molecular tests and to define homogeneous populations suitable for inclusion in therapeutic trials.


Assuntos
Distonia/diagnóstico , Distonia/genética , Predisposição Genética para Doença/genética , Mioclonia/diagnóstico , Mioclonia/genética , Sarcoglicanas/genética , Adolescente , Adulto , Idoso , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Análise Mutacional de DNA , Progressão da Doença , Distonia/fisiopatologia , Eletroencefalografia , Feminino , Marcadores Genéticos/genética , Testes Genéticos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Músculo Esquelético/fisiopatologia , Mutação/genética , Mioclonia/fisiopatologia , Estudos Prospectivos , Reflexo Anormal/genética , Remissão Espontânea
20.
Neurology ; 68(9): 684-7, 2007 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-17325276

RESUMO

We genotyped five polymorphisms, including two polymorphisms with known effects on transcriptional activity, in a large cohort of 427 Alzheimer disease (AD) cases and 472 control subjects. An association between rs463946 (-3102 G/C) and AD was found and was confirmed in a replication sample of a similar size. By contrast, analysis of three recently described rare mutations influencing APP transcription did not confirm their association with AD risk.


Assuntos
Doença de Alzheimer/epidemiologia , Doença de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Testes Genéticos/métodos , Variação Genética/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores de Superfície Celular/genética , Medição de Risco/métodos , Idoso , Biomarcadores Tumorais/genética , Análise Mutacional de DNA/métodos , Feminino , França/epidemiologia , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Heterozigoto , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Regiões Promotoras Genéticas , Nexinas de Proteases , Fatores de Risco
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