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.
Journal articles
inserm-00681614v1
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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.
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.
Journal articles
hal-02715581v1
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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.
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.
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.
Journal articles
hal-01910334v1
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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.
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.
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.
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.
Journal articles
hal-01286009v1
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Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Catherine Dehainault
,
Lisa Golmard
,
Gaël Millot
,
Agathe Charpin
,
Anthony Laugé
et al.
Journal articles
pasteur-03105162v1
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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.
Journal articles
hal-02194510v1
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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.
Journal articles
hal-02173633v1
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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.
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.
Journal articles
hal-01928011v1
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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.
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.
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.
Journal articles
hal-00613913v1
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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.
Journal articles
hal-01926758v1
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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.
Journal articles
hal-03616666v1
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