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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I. Baert-Desurmont S, et al. Among authors: schwartz m. Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967336 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, Lecerf… See abstract for full author list ➔ Caputo SM, et al. Among authors: schwartz 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.
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
Filser M, Schwartz M, Merchadou K, Hamza A, Villy MC, Decees A, Frouin E, Girard E, Caputo SM, Renault V, Becette V, Golmard L, Servant N, Stoppa-Lyonnet D, Delattre O, Colas C, Masliah-Planchon J. Filser M, et al. Among authors: schwartz m. J Med Genet. 2023 Nov 27;60(12):1206-1209. doi: 10.1136/jmg-2023-109155. J Med Genet. 2023. PMID: 37263769 Free PMC article.
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: schwartz m. 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
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. Clin Genet. 2023 Jul;104(1):107-113. doi: 10.1111/cge.14327. Epub 2023 Mar 27. Clin Genet. 2023. PMID: 36974006
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
Schwartz M, Ibadioune S, Chansavang A, Vacher S, Caputo SM, Delhomelle H, Wong J, Abidallah K, Moncoutier V, Becette V, Popova T, Suybeng V, De Pauw A, Stern MH, Colas C, Mouret-Fourme E, Stoppa-Lyonnet D, Golmard L, Bieche I, Masliah-Planchon J. Schwartz M, et al. J Med Genet. 2024 Feb 21;61(3):284-288. doi: 10.1136/jmg-2023-109325. J Med Genet. 2024. PMID: 37748860
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
Coudert M, Drouet Y, Delhomelle H, Svrcek M, Benusiglio PR, Coulet F, Clark DF, Katona BW, van Hest LP, van der Kolk LE, Cats A, van Dieren JM, Nehoray B, Slavin T, Spier I, Hüneburg R, Lobo S, Oliveira C, Boussemart L, Masson L, Chiesa J, Schwartz M, Buecher B, Golmard L, Bouvier AM, Bonadona V, Stoppa-Lyonnet D, Lasset C, Colas C. Coudert M, et al. Among authors: schwartz m. J Med Genet. 2022 Dec;59(12):1189-1195. doi: 10.1136/jmg-2022-108740. Epub 2022 Aug 29. J Med Genet. 2022. PMID: 36038258
6,276 results