Works by Cavaillé, Mathias

Results: 14

Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Published in:

Journal of Genomics, 2021, v. 9, p. 43, doi. 10.7150/jgen.61713

By:

Laraqui, Abdelilah;
Cavaillé, Mathias;
Uhrhammer, Nancy;
ElBiad, Oubaida;
Bidet, Yannick;
El Rhaffouli, Hicham;
El Anaz, Hicham;
Rahali, Driss Moussaoui;
Kouach, Jaouad;
Guelzim, Khaled;
Badaoui, Bouabid;
AlBouzidi, Abderrahman;
Oukabli, Mohammed;
Tanz, Rachid;
Sbitti, Yasser;
Ichou, Mohammed;
Ennibi, Khaled;
Sekhsokh, Yassine;
Bignon, Yves-Jean

Publication type:

Article

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

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 166, doi. 10.1111/cge.13864

By:

Cavaillé, Mathias;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Lepage, Mathis;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean

Publication type:

Article

Is BRCA2 involved in early onset colorectal cancer risk?

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 668, doi. 10.1111/cge.13679

By:

Gay‐Bellile, Mathilde;
Privat, Maud;
Martins, Alexandra;
Caputo, Sandrine M.;
Pebrel‐Richard, Céline;
Cavaillé, Mathias;
Viala, Sandrine;
Corsini, Carole;
Rodrigues, Michael;
Barnich, Nicolas;
Bidet, Yannick;
Uhrhammer, Nancy;
Bignon, Yves‐Jean

Publication type:

Article

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

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1538924

By:

Godiveau, Mélanie;
Ginzac, Angeline;
Bidet, Yannick;
Ponelle-Chachuat, Flora;
Privat, Maud;
Durando, Xavier;
Cavaillé, Mathias;
Lepage, Mathis

Publication type:

Article

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

Published in:

2023

By:

Cavaillé, Mathias;
Crampon, Delphine;
Achim, Viorel;
Bubien, Virginie;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle-Chachuat, Flora;
Gay-Bellile, Mathilde;
Lepage, Mathis;
Ouedraogo, Zangbéwendé Guy;
Jones, Natalie;
Bidet, Yannick;
Sevenet, Nicolas;
Bignon, Yves-Jean

Publication type:

Case Study

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Published in:

JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 4, p. 580, doi. 10.1093/jnci/djad248

By:

Villy, Marie-Charlotte;
Ven, Anaïs Le;
Mentec, Marine Le;
Masliah-Planchon, Julien;
Houy, Alexandre;
Bièche, Ivan;
Vacher, Sophie;
Vincent-Salomon, Anne;
d'Enghien, Catherine Dubois;
Schwartz, Mathias;
Piperno-Neumann, Sophie;
Matet, Alexandre;
Malaise, Denis;
Bubien, Virginie;
Lortholary, Alain;
Omar, Amal Ait;
Cavaillé, Mathias;
Stoppa-Lyonnet, Dominique;
Cassoux, Nathalie;
Stern, Marc-Henri

Publication type:

Article

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Published in:

Familial Cancer, 2025, v. 24, n. 1, p. 1, doi. 10.1007/s10689-025-00445-z

By:

Boedec, Morgane;
Aucouturier, Camille;
Cavaillé, Mathias;
Leman, Raphaël;
Castéra, Laurent;
Delhomelle, Hélène;
Uhrhammer, Nancy;
Bernard, Virginie;
Giraud, Sophie;
Lasseaux, Eulalie;
Jones, Natalie;
Bidart, Marie;
Boutry-Kryza, Nadia;
Noguès, Catherine;
Colas, Chrystelle;
Maugard, Christine;
Krieger, Sophie;
Bouras, Ahmed

Publication type:

Article

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

Published in:

Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 73, doi. 10.1002/gcc.22911

By:

Cavaillé, Mathias;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Lepage, Mathis;
Molnar, Ioana;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 11, p. 1991, doi. 10.3390/genes14111991

By:

Ouedraogo, Zangbéwendé Guy;
Ceruti, Florian;
Lepage, Mathis;
Gay-Bellile, Mathilde;
Uhrhammer, Nancy;
Ponelle-Chachuat, Flora;
Bidet, Yannick;
Privat, Maud;
Cavaillé, Mathias

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 9, p. 1677, doi. 10.3390/genes14091677

By:

Lepage, Mathis;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle-Chachuat, Flora;
Kossai, Myriam;
Scanzi, Julien;
Ouedraogo, Zangbéwendé Guy;
Gay-Bellile, Mathilde;
Bidet, Yannick;
Cavaillé, Mathias

Publication type:

Article

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

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4830045

By:

Privat, Maud;
Ponelle-Chachuat, Flora;
Viala, Sandrine;
Uhrhammer, Nancy;
Lepage, Mathis;
Cayre, Anne;
Bidet, Yannick;
Bignon, Yves-Jean;
Gay-Bellile, Mathilde;
Cavaillé, Mathias

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70086

By:

Lepage, Mathis;
Uhrhammer, Nancy;
Molnar, Ioana;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Bidet, Yannick;
Cavaillé, Mathias

Publication type:

Article

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

Published in:

2023

By:

Garrigues, Guilhaume;
Batisse‐Lignier, Marie;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Kelly, Antony;
Gay‐Bellile, Mathilde;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean;
Cavaillé, Mathias

Publication type:

Case Study

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

Published in:

Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00353

By:

Cavaillé, Mathias;
Ponelle-Chachuat, Flora;
Uhrhammer, Nancy;
Viala, Sandrine;
Gay-Bellile, Mathilde;
Privat, Maud;
Bidet, Yannick;
Bignon, Yves-Jean

Publication type:

Article