LIVIA MUNHOZ RODRIGUES
Projetos de Pesquisa
Unidades Organizacionais
LIM/24 - Laboratório de Oncologia Experimental, Hospital das Clínicas, Faculdade de Medicina
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- Somatic mutations in early onset luminal breast cancer(2018) ENCINAS, G.; SABELNYKOVA, V. Y.; LYRA, E. C. de; KATAYAMA, M. L. H.; MAISTRO, S.; VALLE, P. W. M. V.; PEREIRA, G. F. L.; RODRIGUES, L. M.; SERIO, P. A. M. P.; GOUVêA, A. C. R. C. de; GEYER, F. C.; BASSO, R. A.; PASINI, F. S.; DIZ, M. P. E.; BRENTANI, M. M.; GóES, J. C. G. S.; CHAMMAS, R.; BOUTROS, P. C.; FOLGUEIRA, M. A. A. K.Breast cancer arising in very young patients may be biologically distinct; however, these tumors have been less well studied. We characterized a group of very young patients (≤ 35 years) for BRCA germline mutation and for somatic mutations in luminal (HER2 negative) breast cancer. Thirteen of 79 unselected very young patients were BRCA1/2 germline mutation carriers. Of the non-BRCA tumors, eight with luminal subtype (HER2 negative) were submitted for whole exome sequencing and integrated with 29 luminal samples from the COSMIC database or previous literature for analysis. We identified C to T single nucleotide variants (SNVs) as the most common base-change. A median of six candidate driver genes was mutated by SNVs in each sample and the most frequently mutated genes were PIK3CA, GATA3, TP53 and MAP2K4. Potential cancer drivers affected in the present non-BRCA tumors include GRHL2, PIK3AP1, CACNA1E, SEMA6D, SMURF2, RSBN1 and MTHFD2. Sixteen out of 37 luminal tumors (43%) harbored SNVs in DNA repair genes, such as ATR, BAP1, ERCC6, FANCD2, FANCL, MLH1, MUTYH, PALB2, POLD1, POLE, RAD9A, RAD51 and TP53, and 54% presented pathogenic mutations (frameshift or nonsense) in at least one gene involved in gene transcription. The differential biology of luminal early-age onset breast cancer needs a deeper genomic investigation. © Encinas et al.
- Profile of somatic mutations in young adults with pancreatic cancer.(2019) RODRIGUES, Livia Munhoz; MAISTRO, Simone; KATAYAMA, Maria Lucia Hirata; ROELA, Rosimeire Aparecida; FOLGUEIRA, Maria A. A. Koike
conferenceObject Germline mutations in Brazilian pancreatic carcinoma patients.(2020) RODRIGUES, Livia Munhoz; MAISTRO, Simone; KATAYAMA, Maria Lucia Hirata; LEITE, Luiz A. Senna; GLASBERG, Joao; RIBEIRO, Ulysses; GUINDALINI, Rodrigo Santa Cruz; FOLGUEIRA, Maria A. A. KoikebookPart Alterações genéticas(2022) RODRIGUES, Livia; MAISTRO, Simone- Somatic mutations in triple-negative breast carcinoma and high-grade serous ovarian carcinoma from young women.(2019) SERIO, Pedro Adolpho M. P.; PEREIRA, Glaucia Fernanda Lima; KATAYAMA, Maria Lucia Hirata; MAISTRO, Simone; LOPEZ, Rossana Veronica Mendoza; ROELA, Rosimeire Aparecida; RODRIGUES, Livia Munhoz; FOLGUEIRA, Maria A. A. Koike
- Prevalence of germline mutations in pancreatic carcinoma patients (PCP) unselected for family history (FH).(2021) RODRIGUES, Livia Munhoz; MAISTRO, Simone; ROCHA, Vinicius Marques; LOPEZ, Rossana Veronica Mendoza; FOLGUEIRA, Maria A. A. Koike