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TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

Fabienne Lesueur 1 Séverine Eon-Marchais 1 Sarah Bonnet-Boissinot 1 Juana Beauvallet 1 Marie-Gabrielle Dondon 1 Lisa Golmard 2 Etienne Rouleau 3, 4 Céline Garrec 5 Mathilde Martinez 6 Christine Toulas 7, 8 Tan Dat Nguyen 9 Fanny Brayotel 9 Louise Crivelli 10 Christine Maugard 11, 12 Virginie Bubien 13 Nicolas Sevenet 14 Paul Gesta 15 Stéphanie Chieze-Valero 15 Sophie Nambot 16 Vincent Goussot 17 Véronique Mari 18 Cornel Popovici 19 Fabienne Prieur 20, 21 Marie-Emmanuelle Morin-Meschin 22 Julie Tinat 23 Alain Lortholary 24, 25 Hélène Dreyfus 26, 27 Marie Bidart 28 Marie-Agnès Collonge-Rame 29 Monique Mozelle-Nivoix 30 Laurence Gladieff 7, 8 Sophie Giraud 31, 32 Nadia Boutry-Kryza 31, 32 Jean Chiesa 33 Philippe Denizeau 34 Yves-Jean Bignon 35, 36 Nancy Uhrhammer 36 Odile Cohen-Haguenauer 37, 38 Paul Vilquin 38 Audrey Mailliez 39 Isabelle Coupier 40, 41 Jean-Marc Rey 40 Elodie Lacaze 42 Odile Béra 43 Chrystelle Colas 2 Florence Coulet 44 Capucine Delnatte 45 Claude Houdayer 46 Christine Lasset 47, 48 Jérôme Lemonnier 49 Michel Longy 14 Catherine Noguès 19, 50 Dominique Stoppa-Lyonnet 51 Dominique Vaur 52 Nadine Andrieu 1 Olivier Caron 3, 53, 54
4 Génétique (Biologie pathologie)
Département de biologie et pathologie médicales [Gustave Roussy]
54 Onco-génétique
Département de médecine oncologique [Gustave Roussy]
Abstract : Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC was designed to estimate the cumulative risk of cancer for carriers of a PPV in a gene that is usually tested in a hereditary breast and ovarian cancer context. Index cases are enrolled consecutively among patients who undergo genetic testing as part of their care plan in France. First- and second-degree relatives and cousins of PPV carriers are invited to participate whether they are affected by cancer or not, and genotyped for the familial PPV. Clinical, family and epidemiological data are collected, and all data including sequencing data are centralized at the coordinating centre. The three-year feasibility study included 4431 prospective index cases, with 19.1% of them carrying a PPV. When invited by the coordinating centre, 65.3% of the relatives of index cases (5.7 relatives per family, on average) accepted the invitation to participate. The study logistics were well adapted to clinical and laboratory constraints, and collaboration between partners (clinicians, biologists, coordinating centre and participants) was smooth. Hence, TUMOSPEC is being pursued, with the aim of optimizing clinical management guidelines specific to each gene.
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Submitted on : Friday, September 17, 2021 - 10:58:55 AM
Last modification on : Wednesday, November 17, 2021 - 12:31:41 PM


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Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, et al.. TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing. Cancers, MDPI, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩. ⟨hal-03345372⟩



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