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576 results

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Page 1
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L. Vibert R, et al. Among authors: le gall j. J Med Genet. 2023 May;60(5):460-463. doi: 10.1136/jmg-2022-108467. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270768
Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.
Jiménez I, Frouin É, Chicard M, Dehainault C, Le Gall J, Benoist C, Gauthier A, Lapouble E, Houdayer C, Radvanyi F, Bernard V, Brisse HJ, Gauthier-Villars M, Stoppa-Lyonnet D, Baulande S, Cassoux N, Lumbroso L, Matet A, Aerts I, Renault V, Doz F, Golmard L, Delattre O, Schleiermacher G. Jiménez I, et al. Among authors: le gall j. Eur J Cancer. 2021 Sep;154:277-287. doi: 10.1016/j.ejca.2021.05.039. Epub 2021 Jul 20. Eur J Cancer. 2021. PMID: 34298378
Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants.
Villy MC, Masliah-Planchon J, Melaabi S, Trabelsi Grati O, Girard E, Bataillon G, Vincent-Salomon A, Le Gall J, Golmard L, Stoppa-Lyonnet D, Bieche I, Colas C. Villy MC, et al. Among authors: le gall j. Gynecol Oncol Rep. 2021 Sep 2;37:100855. doi: 10.1016/j.gore.2021.100855. eCollection 2021 Aug. Gynecol Oncol Rep. 2021. PMID: 34541275 Free PMC article.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M,… See abstract for full author list ➔ Caputo SM, et al. Among authors: le gall j, le guyadec g, le mentec m. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers.
Le Gall J, Dehainault C, Benoist C, Matet A, Lumbroso-Le Rouic L, Aerts I, Jiménez I, Schleiermacher G, Houdayer C, Radvanyi F, Frouin E, Renault V, Doz F, Stoppa-Lyonnet D, Gauthier-Villars M, Cassoux N, Golmard L. Le Gall J, et al. J Mol Diagn. 2021 Dec;23(12):1714-1721. doi: 10.1016/j.jmoldx.2021.08.014. Epub 2021 Oct 15. J Mol Diagn. 2021. PMID: 34656762 Free article.
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M, Moncoutier V, Peytral A, Le Gall J, Suybeng V, Pagès M, Masliah-Planchon J, Trabelsi-Grati O, Melaabi S, Callens C, Bièche I, Delhomelle H, De Pauw A, Saule C, Mouret-Fourme E, Gauthier-Villars M, Buecher B, Colas C, Stoppa-Lyonnet D, Golmard L. Schwartz M, et al. Among authors: le gall j. Clin Genet. 2023 Jul;104(1):107-113. doi: 10.1111/cge.14327. Epub 2023 Mar 27. Clin Genet. 2023. PMID: 36974006
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
Le Gall J, Dehainault C, Boutte M, Petitalot A, Caputo SM, Courtois L, Vacher S, Bieche I, Radvanyi F, Pacquement H, Doz F, Lumbroso-Le Rouic L, Gauthier Villars M, Stoppa-Lyonnet D, Lallemand F, Houdayer C, Golmard L. Le Gall J, et al. J Med Genet. 2023 Dec 21;61(1):78-83. doi: 10.1136/jmg-2022-109105. J Med Genet. 2023. PMID: 37541786
Diffuse Infiltrating Retinoblastoma with Anterior Chamber Involvement: Conservative Management and Identification of RB1 Alterations in Aqueous Humor.
Cassoux N, Malaise D, Lumbroso-Le-Rouic L, Le Gall J, Golmard L, Cardoen L, Freneaux P, Bouchoucha Y, Aerts I, Doz F, Matet A. Cassoux N, et al. Among authors: le gall j. Ocul Oncol Pathol. 2023 Sep;9(3-4):96-100. doi: 10.1159/000531233. Epub 2023 Jun 16. Ocul Oncol Pathol. 2023. PMID: 37900191 Free PMC article.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Schwartz M, Ibadioune S, Vacher S, Villy MC, Trabelsi-Grati O, Le Gall J, Caputo SM, Delhomelle H, Warcoin M, Moncoutier V, Bourneix C, Boutry-Kryza N, De Pauw A, Stern MH, Buecher B, Mouret-Fourme E, Colas C, Stoppa-Lyonnet D, Masliah-Planchon J, Golmard L, Bieche I. Schwartz M, et al. Among authors: le gall j. Breast. 2024 Feb;73:103620. doi: 10.1016/j.breast.2023.103620. Epub 2023 Dec 10. Breast. 2024. PMID: 38096711 Free PMC article.
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Bouassida M, Molina-Gomes D, Koraichi F, Hervé B, Lhuilier M, Duvillier C, Le Gall J, Gauthier-Villars M, Serazin V, Quibel T, Dard R, Vialard F. Bouassida M, et al. Among authors: le gall j. Mol Genet Genomic Med. 2024 Apr;12(4):e2437. doi: 10.1002/mgg3.2437. Mol Genet Genomic Med. 2024. PMID: 38588252 Free PMC article.
576 results