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, 10 Bruno Buecher 7 Alain Lortholary 11 Catherine Dugast 12 Paul Gesta 13 Jean-Pierre Fricker 14 Catherine Noguès 15 Laurence Faivre 16, 17 Elisabeth Luporsi 18 Pascaline Berthet 19 Capucine Delnatte 20 Valérie Bonadona 21, 22 Christine Maugard 23, 24 Pascal Pujol 9, 25 Christine Lasset 21, 22 Michel Longy 26 Yves-Jean Bignon 27 Claude Adenis 28 Laurence Venat-Bouvet 29 Liliane Demange 30 Hélène Dreyfus 31, 32 Marc Frenay 33 Laurence Gladieff 34 Isabelle Mortemousque 35 Séverine Audebert-Bellanger 36 Florent Soubrier 37 Sophie Giraud 38 Sophie Lejeune-Dumoulin 39 Annie Chevrier 40 Jean-Marc Limacher 41 Jean Chiesa 42 Anne Fajac 37 Anne Floquet 26 Francois Eisinger 43, 44 Julie Tinat 40 Chrystelle Colas 45 Sandra Fert Ferrer 46 Clotilde Penet 47, 48 Thierry Frebourg 40 Marie-Agnès Collonge-Rame 49 Emmanuelle Barouk-Simonet 26 Valerie Layet 50 Dominique Leroux 51 Odile Cohen-Haguenauer 52 Fabienne Prieur 53 Emmanuelle Mouret-Fourme 15 François Cornelis 54 Philippe Jonveaux 55, 56 Odile Bera 57 Eve Cavaciuti 3, 4, 5, 6 Anne Tardivon 58 Fabienne Lesueur 3, 4, 5, 6 Sylvie Mazoyer 1 Dominique Stoppa-Lyonnet 5, 7, 59, 60 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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