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Publications scientifiques

  • article Abbasoglu D, Lepage M, Sonnier N, Viala S, Uhrhammer N, Ponelle-Chachuat F, Cayre A, Privat M, Cavaillé M, Bidet Y

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

    Clin Genet 2025.

    DOI PUBMED
  • article Boedec M, Aucouturier C, Cavaillé M, Leman R, Castéra L, Delhomelle H, Uhrhammer N, Bernard V, Giraud S, Lasseaux E, Jones N, Bidart M, Boutry-Kryza N, Noguès C, Colas C, Maugard C, Krieger S, Bouras A

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

    Fam Cancer 24 (1), 2025.

    DOI PUBMED
  • article Ribeiro-Guerra M, Dondon MG, Eon-Marchais S, Le Gal D, Beauvallet J, Mebirouk N, Belotti M, Cavaciuti E, Adenis-Lavignasse C, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaille M, Chiesa J, Colas C, Coupier I, Delnatte C, Dreyfus H, Fajac A, Fert-Ferrer S, Fricker JP, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Lasset C, Lejeune-Dumoulin S, Limacher JM, Longy M, Lortholary A, Luporsi E, Maugard CM, Mortemousque I, Nambot S, Noguès C, Pujol P, Venat-Bouvet L, Soubrier F, Tinat J, Tardivon A, Lesueur F, Stoppa-Lyonnet D, Andrieu N

    Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

    Cancers (Basel) 17 (7), 2025.

    DOI PUBMED
  • article Lepage M, Uhrhammer N, Molnar I, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Bidet Y, Cavaillé M

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

    Mol Genet Genomic Med 13 (3), 2025.

    DOI PUBMED
  • article Godiveau M, Ginzac A, Bidet Y, Ponelle-Chachuat F, Privat M, Durando X, Cavaillé M, Lepage M

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

    Front Oncol 15 2025.

    DOI PUBMED
  • article Chevalier B, Coppin L, Romanet P, Cuny T, Maïza JC, Abeillon J, Forestier J, Walter T, Gilly O, Le Bras M, Smati S, Nunes ML, Geslot A, Grunenwald S, Mouly C, Arnault G, Wagner K, Koumakis E, Cortet-Rudelli C, Merlen É and Jannin A, Espiard S, Morange I, Baudin É and Cavaille M, Tauveron I, Teissier MP, Borson-Chazot F, Mirebeau-Prunier D, Savagner F, Pasmant É and Giraud S, Vantyghem MC, Goudet P, Barlier A, Cardot-Bauters C, Odou MF

    Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review

    J Clin Endocrinol Metab 109 (7), 2024.

    DOI PUBMED
  • article Privat M, Ponelle-Chachuat F, Viala S, Uhrhammer N, Lepage M, Cayre A, Bidet Y, Bignon YJ, Gay-Bellile M, Cavaillé M

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

    Hum Mutat 2024 2024.

    DOI PUBMED
  • article Villy MC, Le Ven A, Le Mentec M, Masliah-Planchon J, Houy A, Bièche I, Vacher S, Vincent-Salomon A, Dubois d'Enghien C, Schwartz M, Piperno-Neumann S, Matet A, Malaise D, Bubien V, Lortholary A, Ait Omar A, Cavaillé M, Stoppa-Lyonnet D, Cassoux N, Stern MH, Rodrigues M, Golmard L, Colas C

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

    J Natl Cancer Inst 116 (4), 2024.

    DOI PUBMED
  • article Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É and Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É and Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F

    Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

    Eur J Cancer 179 2023.

    DOI PUBMED
  • article Lepage M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Kossai M, Scanzi J, Ouedraogo ZG, Gay-Bellile M, Bidet Y, Cavaillé M

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

    Genes (Basel) 14 (9), 2023.

    DOI PUBMED
  • article Cavaillé M, Crampon D, Achim V, Bubien V, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Ouedraogo ZG, Jones N, Bidet Y, Sevenet N, Bignon YJ

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

    BMC Med Genomics 16 (1), 2023.

    DOI PUBMED
  • article Garrigues G, Batisse-Lignier M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Kelly A, Gay-Bellile M, Viala S, Bidet Y, Bignon YJ, Cavaillé M

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

    Mol Genet Genomic Med 11 (5), 2023.

    DOI PUBMED