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Page 1
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Walker R, Joo JE, Mahmood K, Clendenning M, Como J, Preston SG, Joseland S, Pope BJ, Medeiros ABD, Murillo BV, Pachter N, Sweet K, Spigelman AD, Groves A, Gleeson M, Bernatowicz K, Poplawski N, Andrews L, Healey E, Gallinger S, Grant RC, Win AK, Hopper JL, Jenkins MA, Torrezan GT, Rosty C, Macrae FA, Winship IM, Buchanan DD, Georgeson P. Walker R, et al. Among authors: torrezan gt. medRxiv [Preprint]. 2024 Aug 9:2024.08.08.24311713. doi: 10.1101/2024.08.08.24311713. medRxiv. 2024. PMID: 39148833 Free PMC article. Preprint.
A Case Study of a Rare Undifferentiated Spindle Cell Sarcoma of the Penis: Establishment and Characterization of Patient-Derived Models.
Sousa ACDS, Fernandes BLNC, da Silva JPA, Stevanato Filho PR, Coimbra LBCT, de Oliveira Beserra A, Alvarenga AL, Maida G, Guimaraes CT, Nakamuta IM, Marchi FA, Alves C, Lichtenfels M, de Farias CB, Kupper BEC, Costa FD, de Mello CAL, Carraro DM, Torrezan GT, Lopes A, Dos Santos TG. Sousa ACDS, et al. Among authors: torrezan gt. Genes (Basel). 2024 Mar 28;15(4):424. doi: 10.3390/genes15040424. Genes (Basel). 2024. PMID: 38674359 Free PMC article.
Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?
Donev K, Sundararajan V, Johnson D, Balan J, Chambers M, Paulson VA, Scherpelz KP, Abdullaev Z, Quezado M, Cimino PJ, Pratt D, Valerio E, Alves de Castro JV, Carraro DM, Torrezan GT, Wolff BM, Kulikowski LD, Costa FD, Aldape K, Ida CM. Donev K, et al. Among authors: torrezan gt. J Neuropathol Exp Neurol. 2024 Apr 19;83(5):357-364. doi: 10.1093/jnen/nlae018. J Neuropathol Exp Neurol. 2024. PMID: 38447592 Free PMC article.
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA, Santiago KM, Maia JML, Costa FD, Formiga MN, Soares DCQ, Paixão D, Mello CAL, Costa CMLD, Rocha JCCD, Rivera B, Carraro DM, Torrezan GT. Carvalho NA, et al. Among authors: torrezan gt. J Med Genet. 2023 Dec 21;61(1):61-68. doi: 10.1136/jmg-2023-109269. J Med Genet. 2023. PMID: 37536918 Free PMC article.
Risk of metastasis in BRCA2 carriers diagnosed with triple-negative breast cancer.
Moreno M, Oliveira JS, Brianese RC, de Castro DG, Sanches SM, Torrezan GT, Santiago KM, De Brot M, Cordeiro de Lima VC, Baroni Alves Makdissi F, Casali Da Rocha JC, Calsavara VF, Carraro DM. Moreno M, et al. Among authors: torrezan gt. Cancer Med. 2023 Aug;12(15):16129-16141. doi: 10.1002/cam4.6267. Epub 2023 Jul 23. Cancer Med. 2023. PMID: 37485802 Free PMC article.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldberg Y, … See abstract for full author list ➔ Dominguez-Valentin M, et al. Among authors: torrezan gt. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 Free PMC article.
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