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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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.
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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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CAG repeat size in Huntingtin alleles is associated with cancer prognosis
Morgane Sonia Thion
,
Sophie Tézenas Du Montcel
,
Jean-Louis Golmard
,
Sophie Vacher
,
Laure Barjhoux
et al.
Journal articles
hal-03413269v1
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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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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.
Journal articles
inserm-01990932v1
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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.
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hal-02194429v1
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A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
Bernard Bonaïti
,
Flora Alarcon
,
Nadine Andrieu
,
Valérie Bonadona
,
Marie-Gabrielle Dondon
et al.
Journal articles
hal-00923931v1
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Daniel Barnes
,
Matti Rookus
,
Lesley Mcguffog
,
Goska Leslie
,
Thea Mooij
et al.
Journal articles
inserm-03193473v1
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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.
Journal articles
inserm-03313811v1
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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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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Laura Fachal
,
Hugues Aschard
,
Jonathan Beesley
,
Daniel Barnes
,
Jamie Allen
et al.
Journal articles
pasteur-03278553v1
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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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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.
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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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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.
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.
Journal articles
hal-03652349v1
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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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Deep Learning identifies new morphological patterns of Homologous Recombination Deficiency in luminal breast cancers from whole slide images
Tristan Lazard
,
Guillaume Bataillon
,
Peter Naylor
,
Tatiana Popova
,
François-Clément Bidard
et al.
2021
Preprints, Working Papers, ...
hal-03533688v1
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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
Romain Micol
,
Lilia Ben Slama
,
Felipe Suarez
,
Loïc Le Mignot
,
Julien Beaute
et al.
Journal articles
hal-03640853v1
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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.
Journal articles
hal-03664541v1
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Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity
Adeline Granzotto
,
Mohamed Amine Benadjaoud
,
Guillaume Vogin
,
Clément Devic
,
Mélanie L. Ferlazzo
et al.
Journal articles
hal-01275547v1
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