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Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. Among authors: maffe a. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience.
Pepe F, Russo G, Venuta A, Scimone C, Nacchio M, Pisapia P, Goteri G, Barbisan F, Chiappetta C, Pernazza A, Campagna D, Giordano M, Perrone G, Sabarese G, Altimari A, de Biase D, Tallini G, Calistri D, Chiadini E, Capelli L, Santinelli A, Gulini AE, Pierpaoli E, Badiali M, Murru S, Murgia R, Guerini Rocco E, Venetis K, Fusco N, Morotti D, Gianatti A, Furlan D, Rossi G, Melocchi L, Russo M, De Luca C, Palumbo L, Simonelli S, Maffè A, Francia di Celle P, Venesio T, Scatolini M, Grosso E, Orecchia S, Fassan M, Balistreri M, Zulato E, Reghellin D, Lazzari E, Santacatterina M, Piredda ML, Riccardi M, Laurino L, Roz E, Longo D, Romeo DP, Fazzari C, Moreno-Manuel A, Puglia GD, Prjibelski AD, Shafranskaya D, Righi L, Listì A, Vitale D, Iaccarino A, Malapelle U, Troncone G. Pepe F, et al. Among authors: maffe a. Oncol Ther. 2024 Mar;12(1):73-95. doi: 10.1007/s40487-023-00252-5. Epub 2024 Jan 11. Oncol Ther. 2024. PMID: 38200361 Free PMC article.
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Sculco M, La Vecchia M, Aspesi A, Clavenna MG, Salvo M, Borgonovi G, Pittaro A, Witel G, Napoli F, Listì A, Grosso F, Libener R, Maconi A, Rena O, Boldorini R, Giachino D, Bironzo P, Maffè A, Alì G, Elefanti L, Menin C, Righi L, Tampieri C, Scagliotti GV, Dianzani C, Ferrante D, Migliore E, Magnani C, Mirabelli D, Matullo G, Dianzani I. Sculco M, et al. Among authors: maffe a. Diagnostics (Basel). 2022 Jul 13;12(7):1710. doi: 10.3390/diagnostics12071710. Diagnostics (Basel). 2022. PMID: 35885614 Free PMC article.
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Dell'Elice A, Cini G, Fornasarig M, Armelao F, Barana D, Bianchi F, Casalis Cavalchini GC, Maffè A, Mammi I, Pedroni M, Percesepe A, Sorrentini I, Tibiletti M, Maestro R, Quaia M, Viel A. Dell'Elice A, et al. Among authors: maffe a. Mol Genet Genomic Med. 2021 Dec;9(12):e1831. doi: 10.1002/mgg3.1831. Epub 2021 Oct 26. Mol Genet Genomic Med. 2021. PMID: 34704405 Free PMC article.
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.
Betti M, Aspesi A, Ferrante D, Sculco M, Righi L, Mirabelli D, Napoli F, Rondón-Lagos M, Casalone E, Vignolo Lutati F, Ogliara P, Bironzo P, Gironi CL, Savoia P, Maffè A, Ungari S, Grosso F, Libener R, Boldorini R, Valiante M, Pasini B, Matullo G, Scagliotti G, Magnani C, Dianzani I. Betti M, et al. Among authors: maffe a. Genes Chromosomes Cancer. 2018 Nov;57(11):573-583. doi: 10.1002/gcc.22670. Genes Chromosomes Cancer. 2018. PMID: 30338612