Maud Privat

Documents

Publications

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation

Mathis Lepage , Nancy Uhrhammer , Ioana Molnar , Maud Privat , Flora Ponelle-Chachuat et al.

Molecular Genetics & Genomic Medicine, 2025, 13 (3), ⟨10.1002/mgg3.70086⟩

Article dans une revue hal-05289853v1

Development and validation of a next-generation sequencing-based method for calculating the breast cancer polygenic risk score PRS313

Flora Ponelle-Chachuat , Mathis Lepage , Sandrine Viala , Mikaïl Kelleci , Edith Le Floch et al.

The Breast, 2025, 84, pp.104580. ⟨10.1016/j.breast.2025.104580⟩

Article dans une revue hal-05289834v1

Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial

Mélanie Godiveau , Angeline Ginzac , Yannick Bidet , Flora Ponelle-Chachuat , Maud Privat et al.

Frontiers in Oncology, 2025, 15, ⟨10.3389/fonc.2025.1538924⟩

Article dans une revue hal-04910020v1

Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non‐Medullary Thyroid Cancer Using Familial Whole‐Exome‐Sequencing

Duygu Abbasoglu , Mathis Lepage , Nicolas Sonnier , Sandrine Viala , Nancy Uhrhammer et al.

Clinical Genetics, 2025, 109 (3), pp.458-469. ⟨10.1111/cge.70060⟩

Article dans une revue hal-05289843v1

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis

Maud Privat , Flora Ponelle-Chachuat , Sandrine Viala , Nancy Uhrhammer , Mathis Lepage et al.

Human Mutation, 2024, 2024, pp.1-14. ⟨10.1155/2024/4830045⟩

Article dans une revue hal-04662080v1

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

Mathias Cavaillé , Delphine Crampon , Viorel Achim , Virginie Bubien , Nancy Uhrhammer et al.

BMC Medical Genomics, 2023, 16 (1), pp.166. ⟨10.1186/s12920-023-01600-0⟩

Article dans une revue hal-04209674v1

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer

Zangbéwendé Guy Ouedraogo , Florian Ceruti , Mathis Lepage , Mathilde Gay-Bellile , Nancy Uhrhammer et al.

Genes, 2023, 14 (11), pp.1991. ⟨10.3390/genes14111991⟩

Article dans une revue hal-04381746v1

Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature

Mathis Lepage , Nancy Uhrhammer , Maud Privat , Flora Ponelle-Chachuat , Myriam Kossai et al.

Genes, 2023, 14 (9), pp.1677. ⟨10.3390/genes14091677⟩

Article dans une revue hal-04298164v1

Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature

Guilhaume Garrigues , Marie Batisse-Lignier , Nancy Uhrhammer , Maud Privat , Flora Ponelle-Chachuat et al.

Molecular Genetics & Genomic Medicine, 2023, 11 (5), pp.e2133. ⟨10.1002/mgg3.2133⟩

Article dans une revue hal-04059687v1

Recurrence biomarkers of triple negative breast cancer treated with neoadjuvant chemotherapy and anti-EGFR antibodies

Nina Radosevic-Robin , Pier Selenica , Yingjie Zhu , Helen Won , Michael Berger et al.

npj Breast Cancer, 2021, 7 (1), ⟨10.1038/s41523-021-00334-5⟩

Article dans une revue hal-03349990v1

New insight into the role of ANXA1 in melanoma progression: involvement of stromal expression in dissemination.

Solène Delorme , Maud Privat , Nicolas Sonnier , Jacques Rouanet , Tiffany Witkowski et al.

American Journal of Cancer Research, 2021, 11 (4), pp.1600-1615

Article dans une revue hal-03345236v1

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⟩

Article dans une revue hal-03375857v1

RNA sequencing reveals the differential expression profiles of RNA in metastatic triple negative breast cancer and identifies SHISA3 as an efficient tumor suppressor gene

Noura Khaled , Nicolas Sonnier , Ioana Molnar , Flora Ponelle-Chachuat , Myriam Kossai et al.

American Journal of Cancer Research, 2021, 11 (9)

Article dans une revue hal-03426451v1

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition

Mathias Cavaillé , Nancy Uhrhammer , Maud Privat , Flora Ponelle-Chachuat , Mathilde Gay-Bellile et al.

Genes, Chromosomes & Cancer, 2020, ⟨10.1002/gcc.22911⟩

Article dans une revue hal-03014219v1

Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers

Mathias Cavaillé , Nancy Uhrhammer , Maud Privat , Flora Ponelle‐chachuat , Mathilde Gay‐bellile et al.

Clinical Genetics, 2020, ⟨10.1111/cge.13864⟩

Article dans une revue hal-02992976v1

Is BRCA2 involved in early onset colorectal cancer risk?

Mathilde Gay‐bellile , Maud Privat , Alexandra Martins , Sandrine Caputo , Céline Pebrel‐richard et al.

Clinical Genetics, 2020, 97 (4), pp.668-669. ⟨10.1111/cge.13679⟩

Article dans une revue hal-02518337v1

Methyl-donor supplementation prevents intestinal colonization by Adherent-invasive E. coli in a mouse model of crohn's disease

Elodie Gimier , Mélissa Chervy , Allison Agus , Adeline Sivignon , Elisabeth Billard et al.

Scientific Reports, 2020, 10, pp.12922. ⟨10.1038/s41598-020-69472-3⟩

Article dans une revue hal-02917129v1

A high expression ratio of RhoA/RhoB is associated with the migratory and invasive properties of basal-like Breast Tumors

Maud Privat , Amélie Cavard , Yanis Zekri , Flora Ponelle-Chachuat , Ioana Molnar et al.

International Journal of Medical Sciences, 2020, 17 (17), pp.2799-2808. ⟨10.7150/ijms.43101⟩

Article dans une revue hal-03009114v1

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Laëtitia Meulemans , Romy L.S. Mesman , Sandrine Caputo , Sophie Krieger , Marine Guillaud-Bataille et al.

Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩

Article dans une revue hal-02929535v1

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing

Mathias Cavaillé , Flora Ponelle-Chachuat , Nancy Uhrhammer , Sandrine Viala , Mathilde Gay-Bellile et al.

Frontiers in Genetics, 2018, 9, pp.353. ⟨10.3389/fgene.2018.00353⟩

Article dans une revue hal-01926601v1

Antioxydation And Cell Migration Genes Are Identified as Potential Therapeutic Targets in Basal-Like and BRCA1 Mutated Breast Cancer Cell Lines

Maud Privat , Justine Rudewicz , Nicolas Sonnier , Christelle Tamisier , Flora Ponelle-Chachuat et al.

International Journal of Medical Sciences, 2018, 15 (1), pp.46 - 58. ⟨10.7150/ijms.20508⟩

Article dans une revue hal-01677187v1

miR-10b, miR-26a, miR-146a And miR-153 Expression in Triple Negative Vs Non Triple Negative Breast Cancer: Potential Biomarkers

Insaf Fkih M'Hamed , Maud Privat , Mounir Trimeche , Frédérique Penault-Llorca , Yves-Jean Bignon et al.

Pathology and Oncology Research, 2017, 23 (4), pp.815 - 827. ⟨10.1007/s12253-017-0188-4⟩

Article dans une revue hal-01675246v1

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

Mathilde Gay-Bellile , Lauren Veronese , Patricia Combes , Eléonore Eymard-Pierre , Fabrice Kwiatkowski et al.

Oncotarget, 2017, 8 (44), pp.77540-77551. ⟨10.18632/oncotarget.20560⟩

Article dans une revue hal-01652833v1

Quantification of hypoxia-related gene expression as a potential approach for clinical outcome prediction in breast cancer

Abderrahim El Guerrab , Anne Cayre , Fabrice Kwiatkowski , Maud Privat , Jean-Marc Rossignol et al.

PLoS ONE, 2017, 12 (4), pp.e0175960. ⟨10.1371/journal.pone.0175960⟩

Article dans une revue hal-01652849v1

ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis

Mathilde Gay-Bellile , Pierre Romero , Anne Cayre , Lauren Veronese , Maud Privat et al.

Journal of Pathology: Clinical Research, 2016, 2 (4), pp.234 - 246. ⟨10.1002/cjp2.52⟩

Article dans une revue hal-01675270v1

Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software

Axel Poulet , Maud Privat , Flora Ponelle , Sandrine Viala , Stephanie Decousus et al.

BioMed Research International , 2016, 437, pp.376 - 11. ⟨10.1186/1471-2105-12-38⟩

Article dans une revue hal-01425585v1

DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition

Marie Ollier , Nina Radosevic-Robin , Fabrice Kwiatkowski , Flora Ponelle , Sandrine Viala et al.

American Journal of Cancer Research, 2015, 5 (7), pp.2113-2126

Article dans une revue hal-01647099v1

BRCA1 Induces Major Energetic Metabolism Reprogramming in Breast Cancer Cells

Maud Privat , Nina Radosevic-Robin , Corinne Aubel , Anne Cayre , Frédérique Penault-Llorca et al.

PLoS ONE, 2014, 9 (7), ⟨10.1371/journal.pone.0102438⟩

Article dans une revue hal-02633594v1

Effect of a New Probiotic Saccharomyces cerevisiae Strain on Survival of Escherichia coli O157:H7 in a Dynamic Gastrointestinal Model

Lucie Etienne-Mesmin , Valérie Livrelli , Maud Privat , Sylvain Denis , Jean-Michel Cardot et al.

Applied and Environmental Microbiology, 2011, 77 (3), pp.1127 - 1131. ⟨10.1128/AEM.02130-10⟩

Article dans une revue hal-02651064v1

Breast cancer cell response to genistein is conditioned by BRCA1 mutations

Maud Privat , Corinne Aubel , Stéphanie Arnould , Yves Communal , Marc M. Ferrara et al.

Biochemical and Biophysical Research Communications, 2009, 379 (3), pp.785-789. ⟨10.1016/j.bbrc.2008.12.151⟩

Article dans une revue istex hal-02667386v1

BRCA1 Downregulation leads to premature inactivation of spindle checkpoint and confers Paclitaxel resistance

C. Chabalier , C. Lamare , C. Racca , M. Privat , Annie Valette et al.

Cell Cycle, 2006, 5 (9), pp.1001-1007. ⟨10.4161/cc.5.9.2726⟩

Article dans une revue hal-00108287v1

Proposal of new candidate genes of predisposition to serous ovarian cancer using whole-exome-sequencing of 16 patients with a familial form

Mathias Cavaillé , Maud Privat , Lorenzo Menicucci , Flora Ponelle , Nicolas Sonnier et al.

European Human Genetics Virtual Conference 2021, Aug 2021, Virtuel, France

Communication dans un congrès hal-03345143v1

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