Publications by authors named "Vinicius Marques Rocha"
Article Synopsis
- - The study explored the presence of pathogenic germline variants in Brazilian patients with pancreatic adenocarcinoma, involving 192 unselected patients and analyzing 113 cancer-related genes, revealing a median age of 61 years and a significant portion presenting advanced disease stages.
- - Of the patients, 6.25% carried pathogenic variants linked to known pancreatic cancer genes, while 13% had variants in genes with less established associations, with CHEK2, ATM, and FANC being the most affected.
- - No differences in the prevalence of these variants were found based on family cancer history or ancestry, suggesting that all Brazilian pancreatic cancer patients should undergo genetic testing regardless of their background.
Objectives: To identify somatic mutations in tumors from young women with triple-negative or luminal breast cancer, through targeted sequencing and to explore the cancer driver potential of these gene variants.
Methods: A customized gene panel was assembled based on data from previous sequencing studies of breast cancer from young women. Triple-negative and luminal tumors and paired blood samples from young breast cancer patients were sequenced, and identified gene variants were searched for their driver potential, in databases and literature.
Genetic 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).
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