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authFullName_s : Marion Gauthier-Villars
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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

Philippine Eloy , Catherine Dehainault , Meriem Sefta , Isabelle Aerts , François Doz et al.
PLoS Genetics, 2016, 12 (2), pp.e1005888. ⟨10.1371/journal.pgen.1005888⟩
Journal articles hal-01286009v1

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

Gaëlle Bougeard , Mariette Renaux-Petel , Jean-Michel Flaman , Camille Charbonnier , Pierre Fermey et al.
Journal of Clinical Oncology, 2015, 33 (21), pp.2345-2352. ⟨10.1200/JCO.2014.59.5728⟩
Journal articles hal-02356329v1
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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

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

David G Cox , Jacques Simard , Daniel Sinnett , Yosr Hamdi , Penny Soucy et al.
Human Molecular Genetics, 2011, 20 (23), pp.4732-47. ⟨10.1093/hmg/ddr388⟩
Journal articles hal-00790211v1
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Jing Liu , Daniela Ottaviani , Meriem Sefta , Céline Desbrousses , Elodie Chapeaublanc et al.
Nature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Journal articles hal-03374490v1
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Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

Stephanie Baert-Desurmont , Francoise Charbonnier , Estelle Houivet , Lorena Ippolito , Jacques Mauillon et al.
European Journal of Human Genetics, 2016, 24 (1), pp.99-105. ⟨10.1038/ejhg.2015.72⟩
Journal articles hal-01659109v1

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Lisa Golmard , Laurent Castéra , Sophie Krieger , Virginie Moncoutier , Khadija Abidallah et al.
European Journal of Human Genetics, 2017, 25 (12), pp.1345-1353. ⟨10.1038/s41431-017-0021-2⟩
Journal articles hal-02194429v1

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Sandrine Caputo , Lisa Golmard , Mélanie Léone , Francesca Damiola , Marine Guillaud-Bataille et al.
American Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
Journal articles hal-03375857v1
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Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

Julie Lecarpentier , Catherine Nogues , Emmanuelle Mouret-Fourme , Bruno Buecher , Marion Gauthier-Villars et al.
Cancer Epidemiology, Biomarkers and Prevention, 2015, 24 (4), pp.698-707. ⟨10.1158/1055-9965.epi-14-0884⟩
Journal articles inserm-01990932v1
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Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1/2 carrier cohort (GENEPSO).

Julie Lecarpentier , Catherine Noguès , Emmanuelle Mouret-Fourme , Marion Gauthier-Villars , Christine Lasset et al.
Breast Cancer Research, 2012, 14 (4), pp.R99. ⟨10.1186/bcr3218⟩
Journal articles inserm-00724092v1
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PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

Flora Alarcon , Catherine Bourgain , Marion Gauthier-Villars , Violaine Planté-Bordeneuve , Dominique Stoppa-Lyonnet et al.
Genetic Epidemiology, 2009, 33 (5), pp.379-85. ⟨10.1002/gepi.20390⟩
Journal articles inserm-00358140v1
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Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

Fanélie Jouenne , Isaure Chauvot de Beauchêne , Emeline Bollaert , Marie-Francoise Avril , Olivier Caron et al.
Journal of Medical Genetics, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩
Journal articles hal-01580787v1
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A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Yue Jiao , Fabienne Lesueur , Chloé-Agathe Azencott , Maïté Laurent , Noura Mebirouk et al.
BMC Medical Research Methodology, 2021, 21 (1), pp.155. ⟨10.1186/s12874-021-01299-6⟩
Journal articles inserm-03313811v1

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Catherine Dehainault , Lisa Golmard , Gaël Millot , Agathe Charpin , Anthony Laugé et al.
European Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
Journal articles pasteur-03105162v1
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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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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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Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

Maximiliano Ribeiro Guerra , Juliette Coignard , Séverine Eon-Marchais , Marie-Gabrielle Dondon , Dorothée Le Gal et al.
Breast Cancer Research, 2021, 23 (1), ⟨10.1186/s13058-021-01456-1⟩
Journal articles hal-03345365v1
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge Lakeman , Alexandra van den Broek , Juliën Vos , Daniel Barnes , Julian Adlard et al.
Genetics in Medicine, 2021, 23 (9), pp.1726-1737. ⟨10.1038/s41436-021-01198-7⟩
Journal articles hal-03652349v1
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EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Virginie Caux-Moncoutier , Laurent Castera , Carole Tirapo , Dorothée Michaux , Marie-Alice Remon et al.
Human Mutation, 2011, 32 (3), pp.325. ⟨10.1002/humu.21414⟩
Journal articles hal-00613913v1

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

Fabienne Lesueur , Noura Mebirouk , Yue Jiao , Laure Barjhoux , Muriel Belotti et al.
Frontiers in Oncology, 2018, 8, pp.490. ⟨10.3389/fonc.2018.00490⟩
Journal articles hal-01926758v1
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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

Lieske Schrijver , Antonis Antoniou , Håkan Olsson , Thea Mooij , Marie-José Roos-Blom et al.
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
Journal articles hal-03664541v1
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The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

Fabienne Lesueur , Mahaut de Lichy , Michel Barrois , Guillermo Durand , Johny Bombled et al.
British Journal of Cancer, 2008, 99 (2), pp.364-370. ⟨10.1038/sj.bjc.6604470⟩
Journal articles hal-02196212v1

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Corine Bertolotto-Ballotti , Fabienne Lesueur , Sandy Giuliano , Thomas Strub , Mahaut de Lichy et al.
Nature, 2011, 480 (7375), pp.94-98. ⟨10.1038/nature10539⟩
Journal articles istex hal-00719536v1