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Structure: Internal structure identifier : 167950
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Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Maylis Lebeault , Stéphane Pinson , Marine Guillaud-Bataille , Anne Gimenez-Roqueplo , Alain Carrié , et al.
Thyroid, 2017, 27 (12), pp.1511-1522. ⟨10.1089/thy.2016.0399⟩
Journal articles hal-01731580v1
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Raphael Leman , Pascaline Gaildrat , Gerald L. Gac , Chandran Ka , Yann Fichou , et al.
Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩
Journal articles hal-01910334v1
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GENESIS: a French national resource to study the missing heritability of breast cancer

Olga M Sinilnikova , Marie-Gabrielle Dondon , Séverine Eon-Marchais , Francesca Damiola , Laure Barjhoux , et al.
BMC Cancer, 2016, 16 (1), pp.606 - 606. ⟨10.1186/s12885-015-2028-9⟩
Journal articles hal-01662200v1
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Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.

Tú Nguyen-Dumont , Lars Jordheim , Jocelyne Michelon , Nathalie Forey , Sandrine Mckay-Chopin , et al.
BMC Medical Genomics, 2011, 4 (1), pp.39. ⟨10.1186/1755-8794-4-39⟩
Journal articles inserm-00663661v1

Etude Genesis : trois ans d'inclusion en France

Séverine Eon-Marchais , Morgane Marcou , Lucie Toulemonde , Marie-Gabrielle Dondon , Juana Beauvallet , et al.
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⟩
Conference poster inserm-00609695v1
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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Antonis Antoniou , Karoline Kuchenbaecker , Penny Soucy , Jonathan Beesley , Xiaoqing Chen , et al.
Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩
Journal articles inserm-00681614v1
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Christopher A. Maxwell , Javier Benítez , Laia Gómez-Baldó , Ana Osorio , Núria Bonifaci , et al.
PLoS Biology, 2011, 9 (11), pp.e1001199. ⟨10.1371/journal.pbio.1001199⟩
Journal articles inserm-00706872v1
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Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

Amandine Garcia , Monique Buisson , Francesca Damiola , Chloé Tessereau , Laure Barjhoux , et al.
European Journal of Human Genetics, 2016, 24 (9), pp.1324-1329. ⟨10.1038/ejhg.2015.284⟩
Journal articles inserm-01994617v1
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Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Logan Walker , Zachary Fredericksen , Xianshu Wang , Robert Tarrell , Vernon Pankratz , et al.
Breast Cancer Research, 2010, 12 (6), pp.R102. ⟨10.1186/bcr2785⟩
Journal articles inserm-00622882v1

Genesis : identification et caractérisation de nouveaux gènes de prédisposition au cancer du sein à partir de l'étude de paires de soeurs atteintes et de témoins apparentées et non apparentées

Séverine Eon-Marchais , Morgane Marcou , Marie-Gabrielle Dondon , Laure Barjhoux , Lucie Toulemonde , et al.
4es Assises de Génétique Humaine et Médicale, Jan 2008, Lille, France. 24 (HS1), page 129, P300/539, 2008, Médecine Sciences: M/S
Conference poster inserm-00238551v1
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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

Sophie Blein , Laure Barjhoux , Francesca Damiola , Marie-Gabrielle Dondon , Séverine Eon-Marchais , et al.
PLoS ONE, 2015, 10 (9), pp.e0136192. ⟨10.1371/journal.pone.0136192⟩
Journal articles inserm-01991386v1
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Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

Sandrine Caputo , Mélanie Léoné , Francesca Damiola , Asa Ehlen , Aura Carreira , et al.
Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Journal articles hal-01928011v1
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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

Ana-Teresa Maia , Antonis Antoniou , Martin O'Reilly , Shamith Samarajiwa , Mark Dunning , et al.
Breast Cancer Research, 2012, 14 (2), pp.R63. ⟨10.1186/bcr3169⟩
Journal articles inserm-00698626v1
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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

Elodie Girard , Séverine Eon‐marchais , Robert E Olaso , Anne‐laure Renault , Francesca Damiola , et al.
International Journal of Cancer, 2019, 144 (8), pp.1962-1974. ⟨10.1002/ijc.31921⟩
Journal articles inserm-02438452v1

Etude Genesis : deux ans d'inclusion !

Séverine Eon-Marchais , Morgane Marcou , Lucie Toulemonde , Marie-Gabrielle Dondon , Juana Beauvallet , et al.
5es Assises de Génétique Humaine et Médicale, Jan 2010, Strasbourg, France. 26 (HS1), p. 126-127, P302, 2010, Médecine Sciences: M/S
Conference poster inserm-00456804v1
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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Anna Marie Mulligan , Fergus Couch , Daniel Barrowdale , Susan Domchek , Diana Eccles , et al.
Breast Cancer Research, 2011, 13 (6), pp.R110. ⟨10.1186/bcr3052⟩
Journal articles inserm-00670601v1
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Exploring the link between MORF4L1 and risk of breast cancer.

Griselda Martrat , Christopher Maxwell , Emiko Tominaga , Montserrat Porta-De-La-Riva , Núria Bonifaci , et al.
Breast Cancer Research, 2011, 13 (2), pp.R40. ⟨10.1186/bcr2862⟩
Journal articles inserm-00622815v1