Publications by authors named "Mathilde Gay-Bellile"

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Development and validation of a next-generation sequencing-based method for calculating the breast cancer polygenic risk score PRS.
Flora Ponelle-Chachuat, Mathis Lepage, Sandrine Viala, Mikaïl Kelleci, Edith Le Floch, Mathilde Gay-Bellile

Breast· December 2025

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Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.
Edwige Kasper, Flavie Boulouard, Noémie Basset, Lisa Golmard, Hela Sassi, Mathilde Gay-Bellile

Int J Cancer· September 2025

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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, Mathilde Gay-Bellile

Hum Mutat· April 2025

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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, Mathilde Gay-Bellile

Mol Genet Genomic Med· March 2025

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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

Genes (Basel)· October 2023

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Case Series of 11 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, Mathilde Gay-Bellile

Genes (Basel)· August 2023

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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, Mathilde Gay-Bellile

BMC Med Genomics· July 2023

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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, Mathilde Gay-Bellile

Mol Genet Genomic Med· May 2023

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Sandrine M Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Mathilde Gay-Bellile

Am J Hum Genet· October 2021

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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

Genes Chromosomes Cancer· February 2021

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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

Clin Genet· January 2021

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PERCEPTION Trial protocol: Comparison of predictive and prognostic capacities of neutrophil, lymphocyte, and platelet counts and tumor-infiltrating lymphocytes in triple negative breast cancer.
Sejdi Lusho, Xavier Durando, Yannick Bidet, Ioana Molnar, Myriam Kossai, Mathilde Gay-Bellile

Medicine (Baltimore)· December 2020

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Is BRCA2 involved in early onset colorectal cancer risk?
Mathilde Gay-Bellile, Maud Privat, Alexandra Martins, Sandrine M Caputo, Céline Pebrel-Richard

Clin Genet· April 2020

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BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer.
Fabrice Kwiatkowski, Mathilde Gay-Bellile, Pascal Dessenne, Claire Laquet, Véronique Boussion

Hered Cancer Clin Pract· February 2019

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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

Front Genet· August 2018

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promoter status and gene copy number gains: effect on expression and association with prognosis in breast cancer.
Mathilde Gay-Bellile, Lauren Véronèse, Patricia Combes, Eleonore Eymard-Pierre, Fabrice Kwiatkowski

Oncotarget· September 2017

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BRACAVENIR - impact of a psychoeducational intervention on expectations and coping in young women (aged 18-30 years) exposed to a high familial breast/ovarian cancer risk: study protocol for a randomized controlled trial.
Fabrice Kwiatkowski, Pascal Dessenne, Claire Laquet, Jean-Pierre Daures, Mathilde Gay-Bellile

Trials· October 2016

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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 Véronèse, Maud Privat

J Pathol Clin Res· October 2016

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A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
Carole Goumy, Mathilde Gay-Bellile, Gaelle Salaun, Stephan Kemeny, Eleonore Eymard-Pierre

Birth Defects Res A Clin Mol Teratol· September 2016

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Telomere status in chronic lymphocytic leukemia with TP53 disruption.
Romain Guièze, Mélanie Pages, Lauren Véronèse, Patricia Combes, Richard Lemal, Mathilde Gay-Bellile

Oncotarget· August 2016

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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre, Mathilde Gay-Bellile

BMC Med Genet· September 2015

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Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Carole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, Stéphen Kemeny, Mathilde Gay-Bellile

Am J Med Genet A· January 2015

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Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.
Celine Pebrel-Richard, Charles Rouzade, Stephan Kemeny, Eleonore Eymard-Pierre, Mathilde Gay-Bellile

Am J Med Genet A· November 2014

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Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.
Stéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, Mathilde Gay-Bellile, Laetitia Gouas

Eur J Med Genet· October 2014

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De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
Carole Goumy, Mathilde Gay-Bellile, Eléonore Eymard-Pierre, Stephan Kemeny, Laetitia Gouas

Birth Defects Res A Clin Mol Teratol· June 2014

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