A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Autor: Yue Jiao, Fabienne Lesueur, Chloé-Agathe Azencott, Maïté Laurent, Noura Mebirouk, Lilian Laborde, Juana Beauvallet, Marie-Gabrielle Dondon, Séverine Eon-Marchais, Anthony Laugé, GEMO Study Collaborators, GENEPSO Study Collaborators, Catherine Noguès, Nadine Andrieu, Dominique Stoppa-Lyonnet, Sandrine M. Caputo

Publikováno v: BMC Medical Research Methodology, Vol 21, Iss 1, Pp 1-11 (2021)

Abstract Background Linking independent sources of data describing the same individuals enable innovative epidemiological and health studies but require a robust record linkage approach. We describe a hybrid record linkage process to link databases f

Externí odkaz: https://doaj.org/article/4525140e15ba44a9b1b45dfcbda507df

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Autor: Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, Sandrine M. Caputo, Marie-Gabrielle Dondon, Mojgan Karimi, Dorothée Le Gal, Juana Beauvallet, Édith Le Floch, Claire Dandine-Roulland, Delphine Bacq-Daian, Robert Olaso, Juliette Albuisson, Séverine Audebert-Bellanger, Pascaline Berthet, Valérie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaillé, Jean Chiesa, Chrystelle Colas, Marie-Agnès Collonge-Rame, Isabelle Coupier, Capucine Delnatte, Antoine De Pauw, Hélène Dreyfus, Sandra Fert-Ferrer, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Lisa Golmard, Christine Lasset, Sophie Lejeune-Dumoulin, Mélanie Léoné, Jean-Marc Limacher, Alain Lortholary, Élisabeth Luporsi, Véronique Mari, Christine M. Maugard, Isabelle Mortemousque, Emmanuelle Mouret-Fourme, Sophie Nambot, Catherine Noguès, Cornel Popovici, Fabienne Prieur, Pascal Pujol, Nicolas Sevenet, Hagay Sobol, Christine Toulas, Nancy Uhrhammer, Dominique Vaur, Laurence Venat, Anne Boland-Augé, Pascal Guénel, Jean-François Deleuze, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur

Publikováno v: European journal of cancer (Oxford, England : 1990). 179

Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for improving risk prediction in the general popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3623bc4b82c7acf4dfa0203c2a08624c
https://pubmed.ncbi.nlm.nih.gov/36509001

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

Autor: Celine Garrec, Monique Mozelle-Nivoix, Jérôme Lemonnier, Etienne Rouleau, Tan Dat Nguyen, Dominique Vaur, Elodie Lacaze, Sarah Bonnet-Boissinot, Sophie Nambot, Jean Chiesa, Sophie Giraud, Dominique Stoppa-Lyonnet, Michel Longy, Alain Lortholary, Jean-Marc Rey, Olivier Caron, Christine Lasset, Claude Houdayer, Christine Maugard, Virginie Bubien, Véronique Mari, Marie-Emmanuelle Morin-Meschin, Nadine Andrieu, Nancy Uhrhammer, Louise Crivelli, Hélène Dreyfus, Vincent Goussot, Stephanie Chieze-Valéro, Nicolas Sevenet, Lisa Golmard, Séverine Eon-Marchais, Mathilde Martinez, Isabelle Coupier, Marie-Gabrielle Dondon, Odile Béra, Paul Vilquin, Capucine Delnatte, Odile Cohen-Haguenauer, Cornel Popovici, Christine Toulas, Laurence Gladieff, Marie-Agnès Collonge-Rame, Chrystelle Colas, Paul Gesta, Catherine Noguès, Fanny Brayotel, Audrey Mailliez, Fabienne Lesueur, Julie Tinat, Marie Bidart, Yves-Jean Bignon, Florence Coulet, Nadia Boutry-Kryza, Fabienne Prieur, Juana Beauvallet, Philippe Denizeau

Publikováno v: Cancers, Vol 13, Iss 3659, p 3659 (2021)
Cancers
Cancers, MDPI, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩
Cancers, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩
Volume 13
Issue 15

Simple Summary TUMOSPEC was designed for estimating the risk of cancer for carriers of a predicted pathogenic variant (PPV) in a gene usually tested in a hereditary breast and ovarian cancer context. Index cases are enrolled consecutively among patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2579023aebb8573f96807a62b602203
https://www.mdpi.com/2072-6694/13/15/3659

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

Autor: Bruno Buecher, Christine Maugard, Janet Hall, Marc Fresnay, Marion Gauthier-Villars, Sébastien Moutton, Sylvain Baulande, Anne Vincent-Salomon, Laurence Gladieff, Olivier Caron, Noura Mebirouk, Pascaline Berthet, Philippe La Rosa, Georgia Chenevix-Trench, Séverine Eon-Marchais, Laetitia Fuhrmann, Anthony Laugé, Laurence Faivre, Tatiana Popova, Fabienne Lesueur, Nicolas Janin, Nadine Andrieu, Ivan Bièche, Jacques-Olivier Bay, Isabelle Coupier, Catherine Dubois d'Enghien, Juana Beauvallet, Marie-Gabrielle Dondon, Sophie Lejeune, Walid Chemlali, Dorothée Le Gal, Anne Laure Renault, Laurence Venat-Bouvet, Elodie Girard, Dominique Stoppa-Lyonnet, Paul Gesta, Jean-Pierre Fricker, Virginie Raynal, Eve Cavaciuti, Martine Labbé, Guillaume Bataillon, Hélène Zattara

Publikováno v: Breast Cancer Research
Breast Cancer Research, BioMed Central, 2018, 20 (1), pp.28. ⟨10.1186/s13058-018-0951-9⟩
Breast Cancer Research, Vol. 20, no.1, p. 28 [1-18] (2018)
Breast Cancer Research, Vol 20, Iss 1, Pp 1-18 (2018)
Breast Cancer Research : BCR

Background The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3eb8d56dfa9ecd4c57bdc351b1eed69
https://hal.uca.fr/hal-01780746

Etude Genesis : trois ans d'inclusion en France

Autor: Séverine Eon-Marchais, Pascaline Berthet, Nadine Andrieu, Olga M. Sinilnikova, Juana Beauvallet, Lucie Toulemonde, Eve Cavaciuti, Morgane Marcou, Carole Verny, Laure Barjhoux, Valérie Bonadona, Catherine Bonaïti, Marie-Claude Babron, Catherine Noguès, Marie-Gabrielle Dondon, Olivier Caron, Dominique Stoppa-Lyonnet, Hagay Sobol

Publikováno v: EPI-CLIN-5e Conférence Francophone d'Épidémiologie Clinique
EPI-CLIN-5e Conférence Francophone d'Épidémiologie Clinique, May 2011, Marseille, France. 59 (S1), pp.S31, P5-9, 2011, Revue d'Épidémiologie et de Santé Publique. 〈10.1016/j.respe.2011.02.050〉
EPI-CLIN-5e Conférence Francophone d'Épidémiologie Clinique, May 2011, Marseille, France. 59 (S1), pp.S31, P5-9, 2011, Revue d'Épidémiologie et de Santé Publique. ⟨10.1016/j.respe.2011.02.050⟩

National audience; Introduction.– Le cancer du sein (CS) concerne environ 10% des femmes. Des mutations dans les gènes BRCA1/2 sont impliquées dans environ 5% des CS et seulement 15 à 20%des cas familiaux testés. L’étude GENESIS a pour objec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4921cd40fd6fac5505bd68ece763a3b0
http://www.hal.inserm.fr/inserm-00609695