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authFullName_s : Claude Houdayer
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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

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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Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

Amélie Chaussade , Gaël A Millot , Constance Wells , Hervé J Brisse , Marick Laé et al.
European Journal of Medical Genetics, 2019, 62 (3), pp.217-223. ⟨10.1016/j.ejmg.2018.07.017⟩
Journal articles hal-02715581v1

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

Fabienne Lesueur , Séverine Eon-Marchais , Sarah Bonnet-Boissinot , Juana Beauvallet , Marie-Gabrielle Dondon et al.
Cancers, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩
Journal articles hal-03345372v1
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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

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes

Véronique Gelsi-Boyer , Virginie Trouplin , José Adélaïde , Nicola Aceto , Virginie Remy et al.
BMC Cancer, 2008, 8 (1), pp.299. ⟨10.1186/1471-2407-8-299⟩
Journal articles hal-03634388v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1
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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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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

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

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Françoise Revillion , Michael T. Parsons , Emma Tudini , Hongyan Li , Eric Hahnen et al.
Human Mutation, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Journal articles hal-02194510v1

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

Ambre Petitalot , Elodie Dardillac , Eric Jacquet , Naima Nhiri , Josee Guirouilh-Barbat et al.
Molecular Cancer Research, 2019, 17 (1), pp.54--69. ⟨10.1158/1541-7786.MCR-17-0357⟩
Journal articles hal-02173633v1

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Hélène Tubeuf , Sandrine M. Caputo , Teresa Sullivan , Julie Rondeaux , Sophie Krieger et al.
Cancer Research, 2020, 80 (17), pp.3593-3605. ⟨10.1158/0008-5472.CAN-20-0895⟩
Journal articles hal-03597164v1
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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

Abstract P6-08-12: Feasibility of a nation-wide family-based study to assess cancer risks in families with a predicted pathogenic variant identified through hereditary breast and ovary multi-gene panel testing: The TUMOSPEC study

Olivier Caron , Séverine Eon-Marchais , Sarah Bonnet-Boissinot , Juana Beauvallet , Marie-Gabrielle Dondon et al.
Abstracts: 2019 San Antonio Breast Cancer Symposium; December 10-14, 2019; San Antonio, Texas, Dec 2019, San Antonio (Texas), United States. pp.P6-08-12-P6-08-12, ⟨10.1158/1538-7445.SABCS19-P6-08-12⟩
Conference papers inserm-03203351v1
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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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BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud , Stanley I Letovsky , Corey D Braastad , Sandrine M Caputo , Olivia Beaudoux et al.
Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩
Journal articles hal-01670197v1
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Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

Pierre Thouvenot , Barbara Ben Yamin , Lou Fourrière , Aurianne Lescure , Thomas Boudier et al.
PLoS Genetics, 2016, 12 (6), pp.e1006096. ⟨10.1371/journal.pgen.1006096⟩
Journal articles hal-01360165v1
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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

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Raphaël Leman , Hélène Tubeuf , Sabine Raad , Isabelle Tournier , Céline Derambure et al.
BMC Genomics, 2020, 21 (1), pp.86. ⟨10.1186/s12864-020-6484-5⟩
Journal articles hal-03616666v1