Publications by authors named "Mathis Lepage"

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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

Breast· December 2025

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Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.
Marie-Charlotte Villy, Youenn Drouet, Lise Larcher, Yoann Vial, Benjamin Dauriat, Mathis Lepage

Eur J Hum Genet· October 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, Mathis Lepage

Int J Cancer· September 2025

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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

Clin Genet· 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

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

Mol Genet Genomic Med· March 2025

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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, Mathis Lepage

Front Oncol· January 2025

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Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Zangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, Gilles Millat, Sarah Langlais, Mathis Lepage

Genes (Basel)· February 2024

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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

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, Mathis Lepage

BMC Med Genomics· July 2023

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Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
Florian Cherik, Mathis Lepage, Ganaelle Remerand, Christine Francannet, Amélie Delabaere

Eur J Med Genet· September 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, Mathis Lepage

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, Mathis Lepage

Clin Genet· January 2021

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