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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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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

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.
European Journal of Human Genetics, 2016, 24 (9), pp.1310-1315. ⟨10.1038/ejhg.2016.13⟩
Journal articles hal-03413269v1

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

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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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 of Medical Genetics, 2013, 51 (2), epub ahead of print. ⟨10.1136/jmedgenet-2013-101674⟩
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.
Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
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.
BMC Medical Research Methodology, 2021, 21 (1), pp.155. ⟨10.1186/s12874-021-01299-6⟩
Journal articles inserm-03313811v1

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

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.
Nature Genetics, 2020, 52 (1), pp.56-73. ⟨10.1038/s41588-019-0537-1⟩
Journal articles pasteur-03278553v1

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

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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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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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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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.
Preprints, Working Papers, ... hal-03533688v1

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.
The journal of allergy and clinical immunology, 2011, 128 (2), pp.382-389. ⟨10.1016/j.jaci.2011.03.052⟩
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.
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

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.
International Journal of Radiation Oncology, Biology, Physics, 2016, 94 (3), pp.450--460. ⟨10.1016/j.ijrobp.2015.11.013⟩
Journal articles hal-01275547v1