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Page 1
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Villy MC, Warcoin M, Filser M, Buecher B, Golmard L, Suybeng V, Schwartz M, Bieche I, Vacher S, Laurence V, Bourdeaut F, Bernier M, Gutman T, Stoppa-Lyonnet D, Masliah-Planchon J, Colas C. Villy MC, et al. Among authors: schwartz m. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12929. doi: 10.1111/nan.12929. Neuropathol Appl Neurobiol. 2023. PMID: 37524406
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.
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
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
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.
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
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
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. Villy MC, et al. Among authors: schwartz m. J Natl Cancer Inst. 2024 Apr 5;116(4):580-587. doi: 10.1093/jnci/djad248. J Natl Cancer Inst. 2024. PMID: 38060262
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. Breast. 2024 Feb;73:103620. doi: 10.1016/j.breast.2023.103620. Epub 2023 Dec 10. Breast. 2024. PMID: 38096711 Free PMC article.
6,264 results