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Master Thesis

Les variants de signification indéterminée des gènes de prédisposition au cancer du sein et de l’ovaire : enquête concernant les pratiques des gynécologues et des généticiens

Abstract : Introduction: Genetic screening is now a routine part of clinical practice. Some of the variants, called "variants of undetermined significance" (VUSs), have unknown pathogenicity. They concern up to 10-15% of the cases in BRCA1/2. Our objective was to evaluate how gynecologists understand a VUS for susceptibility gene to breast and ovarian cancer. Materials and methods: 477 gynecologists, and 319 medical geneticists, or genetic counselors, were invited to complete an online survey from April to July 2019. Results: Regarding the questionnaire for gynecologists, 50 people answered, and 55 people answered for geneticists survey. A majority of gynecologist have reported being aware of VUSs existence (84%, n=42) and provided the correct information (84%, n=42). Regarding breast screening, evaluated by two short clinical cases, only 6% (n=3) and 12% (n=6) of respondents advised adequate surveillance. About an eventual risk-reducing surgery, gynecologists are more interventionist than geneticists (mastectomy p = 0.001; salpingooophorectomy p<0.0001) in presence of a VUS. Conclusion: The management recommended by gynecologists for VUS patients is heterogeneous, both for breast screening and for breast and ovarian risk-reduction surgery. These data encourage a multidisciplinary approach as well as the continuation of training efforts in a field where knowledge is rapidly developing.
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Master Thesis
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Submitted on : Monday, October 7, 2019 - 5:45:24 PM
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Anna Lamotte. Les variants de signification indéterminée des gènes de prédisposition au cancer du sein et de l’ovaire : enquête concernant les pratiques des gynécologues et des généticiens. Médecine humaine et pathologie. 2019. ⟨dumas-02307661⟩

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