VINICIUS MARQUES ROCHA
Projetos de Pesquisa
Unidades Organizacionais
LIM/24 - Laboratório de Oncologia Experimental, Hospital das Clínicas, Faculdade de Medicina
3 resultados
Resultados de Busca
Agora exibindo 1 - 3 de 3
- Detection of germline variants in Brazilian breast cancer patients using multigene panel testing(2022) GUINDALINI, Rodrigo Santa Cruz; VIANA, Danilo Vilela; KITAJIMA, Joao Paulo Fumio Whitaker; ROCHA, Vinicius Marques; LOPEZ, Rossana Veronica Mendoza; ZHENG, Yonglan; FREITAS, Erika; MONTEIRO, Fabiola Paoli Mendes; VALIM, Andre; SCHLESINGER, David; KOK, Fernando; I, Olufunmilayo Olopade; FOLGUEIRA, Maria Aparecida Azevedo KoikeGenetic diversity of germline variants in breast cancer (BC) predisposition genes is unexplored in miscegenated populations, such those living in Latin America. We evaluated 1663 Brazilian BC patients, who underwent hereditary multigene panel testing (20-38 cancer susceptibility genes), to determine the spectrum and prevalence of pathogenic/likely pathogenic (P/LP) variants and variants of uncertain significance (VUS). Associations between P/LP variants and BC risk were estimated in a case-control analysis of BC patients and 18,919 Brazilian reference controls (RC). In total, 335 (20.1%) participants carried germline P/LP variants: 167 (10.0%) in BRCA1/2, 122 (7.3%) in BC actionable non-BRCA genes and 47 (2.8%) in candidate genes or other cancer predisposition genes. Overall, 354 distinctive P/LP variants were identified in 23 genes. The most commonly mutated genes were: BRCA1 (27.4%), BRCA2 (20.3%), TP53 (10.5%), monoallelic MUTYH (9.9%), ATM (8.8%), CHEK2 (6.2%) and PALB2 (5.1%). The Brazilian variant TP53 R337H (c.1010G>A, p.Arg337His), detected in 1.6% of BC patients and 0.1% of RC, was strongly associated with risk of BC, OR = 17.4 (95% CI: 9.4-32.1; p < 0.0001); monoallelic MUTYH variants c.1187G>A and c.536A>G, detected in 1.2% (0.9% RC) and 0.8% (0.4% RC) of the patients, respectively, were not associated with the odds of BC, the former with OR = 1.4 (95% CI: 0.8-2.4; p = 0.29) and the latter with OR = 1.9 (95% CI: 0.9-3.9; p = 0.09). The overall VUS rate was 46.1% for the entire patient population. Concluding, the use of multigene panel testing almost doubled the identification of germline P/LP variants in clinically actionable predisposition genes in BC patients. In Brazil, special attention should be given to TP53 P/LP variants.
- 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
bookPart Ciclo celular(2022) ROCHA, Vinícius Marques; FOLGUEIRA, Maria Aparecida Azevedo Koike; KATAYAMA, Maria Lucia Hirata