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The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Alvaro-Aranda L, Petitalot A, Djeghmoum Y, Panigada D, Singh JK, Ehlén Å, Vugic D, Martin C, Miron S, Contreras-Perez A, Nhiri N, Boucherit V, Lafitte P, Dumoulin I, Rouleau E, Jacquet E, Feliubadaló L, Del Valle J, Stoppa-Lyonnet D, Zinn-Justin S, Lázaro C, Caputo SM, Carreira A. Alvaro-Aranda L, et al. Among authors: caputo sm. Nucleic Acids Res. 2023 Dec 24:gkad1222. doi: 10.1093/nar/gkad1222. Online ahead of print. Nucleic Acids Res. 2023. PMID: 38142462
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: caputo sm. Breast. 2024 Feb;73:103620. doi: 10.1016/j.breast.2023.103620. Epub 2023 Dec 10. Breast. 2024. PMID: 38096711 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. Among authors: caputo sm. J Med Genet. 2024 Feb 21;61(3):284-288. doi: 10.1136/jmg-2023-109325. J Med Genet. 2024. PMID: 37748860
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. Among authors: caputo sm. J Med Genet. 2023 Dec 21;61(1):78-83. doi: 10.1136/jmg-2022-109105. J Med Genet. 2023. PMID: 37541786
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E, Santana Dos Santos E, Genestie C, Pautier P, Lacroix L, Caputo SM, Cabaret O, Guillaud-Bataille M, Michels J, Auguste A, Leary A, Rouleau E. Borcoman E, et al. Among authors: caputo sm. Int J Mol Sci. 2023 Jul 18;24(14):11570. doi: 10.3390/ijms241411570. Int J Mol Sci. 2023. PMID: 37511329 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: caputo sm. 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.
WWOX binds MERIT40 and modulates its function in homologous recombination, implications in breast cancer.
Taouis K, Vacher S, Guirouilh-Barbat J, Camonis J, Formstecher E, Popova T, Hamy AS, Petitalot A, Lidereau R, Caputo SM, Zinn-Justin S, Bièche I, Driouch K, Lallemand F. Taouis K, et al. Among authors: caputo sm. Cancer Gene Ther. 2023 Aug;30(8):1144-1155. doi: 10.1038/s41417-023-00626-x. Epub 2023 May 29. Cancer Gene Ther. 2023. PMID: 37248434 Free PMC article.
Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
Debbabi I, Vacher S, Neuzillet C, Cros J, Revillon F, Petitalot A, Turpin A, Antonio S, Girard E, Dupain C, Kamal M, Hammel P, Bièche I, Masliah-Planchon J, Caputo SM. Debbabi I, et al. Among authors: caputo sm. Ther Adv Med Oncol. 2023 Jan 18;15:17588359221146132. doi: 10.1177/17588359221146132. eCollection 2023. Ther Adv Med Oncol. 2023. PMID: 36700131 Free PMC article.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Bojesen SE, Bolla MK, Brenner H, Brown MA, Buys SS, Canzian F, Caputo SM, Castelao JE, Chang-Claude J; GC-HBOC study Collaborators; Czene K, Daly MB, De Nicolo A, Devilee P, Dörk T, Dunning AM, Dwek M, Eccles DM, Engel C, Evans DG, Fasching PA, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Gentry-Maharaj A, Geurts-Giele WRR, Giles GG, Glendon G, Goldberg MS, Garcia EBG, Güendert M, Guénel P, Hahnen E, Haiman CA, Hall P, Hamann U, Harkness EF, Hogervorst FBL, Hollestelle A, Hoppe R, Hopper JL, Houdayer C, Houlston RS, Howell A; ABCTB Investigators; Jakimovska M, Jakubowska A, Jernström H, John EM, Kaaks R, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Lacey JV, Lambrechts D, Léoné M, Lindblom A, Lubiński J, Lush M, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Menon U, Milne RL, Monteiro AN, Murphy RA, Neuhausen SL, Nevanlinna H, Newman WG, Offit K, Park SK, James P, Peterlongo P, Peto J, Plaseska-Karanfilska D, Punie K, Radice P, Rashid MU, Rennert G, Romero A, Rosenberg EH, Saloustros E, Sandler DP, Schmidt MK, Sch… See abstract for full author list ➔ Zanti M, et al. Among authors: caputo sm. Hum Mutat. 2023;2023:9961341. doi: 10.1155/2023/9961341. Epub 2023 Sep 14. Hum Mutat. 2023. PMID: 38725546 Free PMC article.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, 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, 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. Jiao Y, et al. Among authors: caputo sm. Eur J Cancer. 2023 Jan;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub 2022 Nov 13. Eur J Cancer. 2023. PMID: 36509001 Free article.
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