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BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P, Milanezi F, D'Andrea M, Martins S, Monfredini PM, Dos Santos Silva J, Perrone E, Villela D, Schnabel B, Nakano V, Palmero EI, Braggio E, Cavalcanti TL, Guida G, Migliavacca MP, Scapulatempo-Neto C, Zalcberg I. Mazzonetto P, et al. Among authors: monfredini pm. Breast Cancer Res Treat. 2023 May;199(1):127-136. doi: 10.1007/s10549-023-06892-5. Epub 2023 Mar 7. Breast Cancer Res Treat. 2023. PMID: 36881271
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.
Campos AE, Rosenberg C, Krepischi A, França M, Lopes V, Nakano V, Vertemati T, Cochak M, Migliavacca M, Milanezi F, Sousa AC, Silva J, Vieira L, Monfredini P, Palumbo AC, Fernandes J, Perrone E. Campos AE, et al. Mol Syndromol. 2021 Aug;12(5):312-320. doi: 10.1159/000516323. Epub 2021 Jul 15. Mol Syndromol. 2021. PMID: 34602959 Free PMC article.
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Guarischi-Sousa R, Kroll JE, Bonaldi A, Pierry PM, Villela D, Souza CA, Silva JS, Bürger MC, Oliveira FA, de Paula MG, Meliso FM, de Almeida LG, Monfredini PM, de Oliveira AG, Milanezi F, Scapulatempo-Neto C, Yamamoto GL. Guarischi-Sousa R, et al. Among authors: monfredini pm. Diagnostics (Basel). 2023 Oct 24;13(21):3293. doi: 10.3390/diagnostics13213293. Diagnostics (Basel). 2023. PMID: 37958189 Free PMC article.