GENESIS: a French national resource to study the missing heritability of breast cancer

Olga M Sinilnikova 1, 2 Marie-Gabrielle Dondon 3, 4, 5, 6 Séverine Eon-Marchais 3, 4, 5, 6 Francesca Damiola 1 Laure Barjhoux 1 Morgane Marcou 3, 4, 5, 6 Carole Verny-Pierre 1 Valérie Sornin 1 Lucie Toulemonde 3, 4, 5, 6 Juana Beauvallet 3, 4, 5, 6 Dorothée Le Gal 3, 4, 5, 6 Noura Mebirouk 3, 4, 5, 6 Muriel Belotti 7 Olivier Caron 8 Marion Gauthier-Villars 7 Isabelle Coupier 9 Bruno Buecher 7 Alain Lortholary 10 Catherine Dugast 11 Paul Gesta 12 Jean-Pierre Fricker 13 Catherine Noguès 14 Laurence Faivre 15, 16 Elisabeth Luporsi 17 Pascaline Berthet 18 Capucine Delnatte 19 Valérie Bonadona 20, 21 Christine Maugard 22, 23 Pascal Pujol 9 Christine Lasset 20, 21 Michel Longy 24 Yves-Jean Bignon 25 Claude Adenis 26 Laurence Venat-Bouvet 27 Liliane Demange 28 Hélène Dreyfus 29, 30 Marc Frenay 31 Laurence Gladieff 32 Isabelle Mortemousque 33 Séverine Audebert-Bellanger 34 Florent Soubrier 35 Sophie Giraud 36 Sophie Lejeune-Dumoulin 37 Annie Chevrier 38 Jean-Marc Limacher 39 Jean Chiesa 40 Anne Fajac 35 Anne Floquet 24 Francois Eisinger 41, 42 Julie Tinat 38 Chrystelle Colas 43 Sandra Fert Ferrer 44 Clotilde Penet 45, 46 Thierry Frebourg 38 Marie-Agnès Collonge-Rame 47 Emmanuelle Barouk-Simonet 24 Valerie Layet 48 Dominique Leroux 49 Odile Cohen-Haguenauer 50 Fabienne Prieur 51 Emmanuelle Mouret-Fourme 14 François Cornelis 52 Philippe Jonveaux 53, 54 Odile Bera 55 Eve Cavaciuti 3, 4, 5, 6 Anne Tardivon 56 Fabienne Lesueur 3, 4, 5, 6 Sylvie Mazoyer 1 Dominique Stoppa-Lyonnet 5, 7, 57, 58 Nadine Andrieu 3, 4, 5, 6, 1
8 Onco-génétique
Département de médecine oncologique [Gustave Roussy]
Abstract : Background: Less than 20 % of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibility genes in women attending cancer genetics clinics and with no BRCA1/2 mutation. Methods: The study involved the French national network of family cancer clinics. It was based on enrichment in genetic factors of the recruited population through case selection relying on familial criteria, but also on the consideration of environmental factors and endophenotypes like mammary density or tumor characteristics to assess potential genetic heterogeneity. One of the initial aims of GENESIS was to recruit affected sibpairs. Siblings were eligible when index cases and at least one affected sister were diagnosed with infiltrating mammary or ductal adenocarcinoma, with no BRCA1/2 mutation. In addition, unrelated controls and unaffected sisters were recruited. The enrolment of patients, their relatives and their controls, the collection of the clinical, epidemiological, familial and biological data were centralized by a coordinating center.
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Olga M Sinilnikova, Marie-Gabrielle Dondon, Séverine Eon-Marchais, Francesca Damiola, Laure Barjhoux, et al.. GENESIS: a French national resource to study the missing heritability of breast cancer. BMC Cancer, BioMed Central, 2016, 16 (1), pp.606 - 606. 〈https://bmccancer.biomedcentral.com/track/pdf/10.1186/s12885-015-2028-9?site=bmccancer.biomedcentral.com〉. 〈10.1186/s12885-015-2028-9〉. 〈hal-01662200〉

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