L’offre de tests de prédisposition génétique au cancer du sein ou de l’ovaire en France

Sevilla, Christine; Bourret, Pascale; Noguès, Catherine; Moatti, Jean‐Paul; Sobol, Hagay; Cancer, le Groupe Génétique et; Julian‐Reynier, Claire

doi:10.1051/medsci/2004208-9788

Cited by 10 publications

(4 citation statements)

References 24 publications

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“…This may explain why a lower ratio was observed with BRCA2 than with BRCA1, since in France many laboratories had been carrying out BRCA1 testing long before they started testing for BRCA2 [11]. It is therefore not surprising that more relatives of BRCA1 carriers than relatives of BRCA2 carriers were tested (taking the number of proven mutations into account).…”

Section: Discussionmentioning

confidence: 99%

“…No questions about the methods used for BRCA1/2 and MMR gene testing were included among the items to be filled in the reports. Based on information from another source, it can be said that denaturing high-performance liquid chromatography was mainly used in 2001 [11]. Multiplex ligation-dependent probe amplification was not being used at that time; thus, in all the tests counted, the laboratories were looking for point mutations.…”

Section: Data Gathering Analyses and Indicatorsmentioning

confidence: 99%

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Genetic Testing for Familial Cancer

Eisinger

2008

Public Health Genomics

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Background: Since 2002, hereditary cancer gene testing has been funded at the national level in France. Here we report on the impact of this funding on the number of tests carried out and specify the genes/syndromes on which these tests focus. Methods: All French laboratory facilities funded had to submit a report on their activities to the French Health Ministry in March 2004. Results: Funding has led to an increase of >344% in the number of tests carried out between the years 2000 and 2003. For every 100,000 inhabitants, 16.02 cases with a familial cancer syndrome (index cases subjected to ‘diagnostic genetic testing’) and 4.44 relatives of an index case with a proven mutation were tested. The overall mutation detection rate was 15.2% in the case of breast cancer genes and 17.2% in that of mismatch repair genes. Conclusion: In France, the current mutation detection rate is high in comparison with the 10% benchmark level. A further increase can be expected to occur in the number of tests carried out in the future.

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Section: Discussionmentioning

confidence: 99%

Section: Data Gathering Analyses and Indicatorsmentioning

confidence: 99%

Genetic Testing for Familial Cancer

Eisinger

2008

Public Health Genomics

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“…L'impact comportemental des résultats des tests génétiques qui commence à être bien documenté par des études longitudinales, notamment françaises, montre des divergences sociodémographiques, géographiques et psychologiques, notamment dans l'acceptabilité des pratiques de chirur gie prophylactique et le délai de recours les concernant. < cements de recherche [1] et se sont structurées à partir de 2003 de manière formelle grâce aux deux premiers « plans cancer » [2]. On comptait en 2009 6 400 prescriptions de tests BRCA ( breast-cancerassociated gene) pour « cas index » (désigne la première personne testée dans une famille) et 2 900 pour les apparentés [2].…”

Section: Prédisposition Génétique Aux Cancers Du Sein Et De L'ovaire unclassified

Prédisposition génétique aux cancers du sein et de l’ovaire

Julian‐Reynier

2011

Med Sci (Paris)

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Nous détaillerons dans ce texte essentiellement l'importance des tests génétiques BRCA1/2 réalisés chez les femmes. En ce qui concerne les hommes porteurs d'une mutation délétère d'un de ces deux gènes, si leur risque de développer un cancer du sein est élevé par rapport à celui d'un homme non porteur de cette mutation, surtout dans le cas de mutations de BRCA2, le risque absolu qui les concerne reste très faible [3]. Pour les hommes porteurs d'une de ces mutations, l'importance des résultats réside essentiellement dans la nécessité d'informer leur descendance dans la mesure où la mutation est transmise de manière autosomique dominante (donc la probabilité de transmission de cette mutation à leurs enfants est de 50 %). Pour une personne ay ant déjà développé un cancer du sein et/ou de l'ovaire, et dans un contexte le plus souvent d'histoire familiale, la réalisation d'un test génétique (que tous les médecins peuvent prescrire) est considérée comme un élément de diagnostic étiologique, qui donne maintenant aussi des éléments de pronostic et d'aide à la décision chirur gicale et médicale [3,4] . Ainsi, la présence d'une mutation délétère d'un gène BRCA1/2 est indicatrice, pour la personne déjà malade, d'une fréquence plus élevée de récidives ou de la survenue d'autres atteintes. L'absence de découverte de mutation BRCA1/2 chez un cas index quand une mutation familiale n 'était pas connue au préalable, situation de loin la plus fréquente (80 %) lorsque ces analyses sont faites pour la première fois dans de nouvelles familles, est Accès aux tests de prédisposition génétique aux cancers en France L'accès aux tests de prédisposition génétique aux cancers du sein et/ou de l'ovaire (tests d'oncogénétique) se fait en France par le biais de consultations spécia-lisées organisées en réseaux (107 lieux de consultation en 2009). Dans notre pays, ces consultations se sont développées à la fin des années 1990 grâce à des finan-

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“…In the case of breast and ovarian cancer, following the identification in 1994-95 of two susceptibility genes (BRCA1 and 2), clinical predictive tests were quickly established and their use has increased markedly in recent years. For instance, according to surveys that were conducted in France, more than 4400 specialized cancer genetic consultations took place in more than 50 locations nationwide in 1999 (Julian-Reynier & Bourret, 1999) and approximately 5000 consultations were conducted the following year (Sevilla et al, 2004). In the present paper, based on fieldwork on French clinical cancer genetics, I will take a closer look at the transformations that have occurred in this domain and argue that the development of clinical molecular genetic approaches is predicated upon the development of new forms of collaborative work, leading to a respecification of patients' identities as well as of the content and organization of medical work and judgement.…”

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confidence: 99%

BRCA Patients and Clinical Collectives

Bourret¹

2005

Soc Stud Sci

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Since the late 1980s, in France and in a number of other countries, cancer genetics testing has become a clinical reality, particularly for hereditary breast and ovarian cancer. BRCA tests allowing for the assessment of an increased cancer risk among patients and their healthy relatives are now being routinely performed as part of clinical practice. Based on fieldwork on French clinical cancer genetics and on the French Cancer Genetics Collaborative Network, this paper examines the configuration of entities, actors and activities mobilized by the performance of BRAC testing, and argues that the development of clinical molecular genetic practices is predicated upon the development of new forms of collaborative work that lead to a transformation of the content and organization of medical activities and judgements. The paper analyses three major collective configurations - local multidisciplinary collectives, data collectives and new clinical collectives - and argues that they not only provide the material conditions needed to carry out the relevant activities, but also articulate a series of distinctive bio-clinical interventions. These interventions provide an interface with research activities, produce the epidemiological measurements and tools that are a sine qua non for clinical work in this field, and, most importantly, establish the conventions that underlie practices, which define the criteria that turn tools and novel entities into operational components of clinical settings. It thus appears that in the field of clinical cancer genetics, bioclinical collectives, as a locus of expertise, have replaced the individual judgement of the practicing clinician.

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L’offre de tests de prédisposition génétique au cancer du sein ou de l’ovaire en France

Cited by 10 publications

References 24 publications

Genetic Testing for Familial Cancer

Genetic Testing for Familial Cancer

Prédisposition génétique aux cancers du sein et de l’ovaire

BRCA Patients and Clinical Collectives

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