Project description:The development of precision medicine strategies requires prior knowledge of the genetic background of the target population. However, despite the availability of data from admixed Americans within large reference population databases, we cannot use these data as a surrogate for that of the Brazilian population. This lack of transferability is mainly due to differences between ancestry proportions of Brazilian and other admixed American populations. To address the issue, a coalition of research centres created the Brazilian Initiative on Precision Medicine (BIPMed), an initiative of five Research Innovation and Dissemination Centers (RIDCs) supported by FAPESP.

2020-08-22 | GSE156652 | GEO

Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.

Project description:Clinically relevant subtypes exist for pancreatic ductal adenocarcinoma (PDAC), but molecular characterization is not yet standard in clinical care. We implemented a biopsy protocol to perform time-sensitive whole-exome sequencing and RNA sequencing for patients with advanced PDAC. Therapeutically relevant genomic alterations were identified in 48% (34/71) and pathogenic/likely pathogenic germline alterations in 18% (13/71) of patients. Overall, 30% (21/71) of enrolled patients experienced a change in clinical management as a result of genomic data. Twenty-six patients had germline and/or somatic alterations in DNA-damage repair genes, and 5 additional patients had mutational signatures of homologous recombination deficiency but no identified causal genomic alteration. Two patients had oncogenic in-frame BRAF deletions, and we report the first clinical evidence that this alteration confers sensitivity to MAPK pathway inhibition. Moreover, we identified tumor/stroma gene expression signatures with clinical relevance. Collectively, these data demonstrate the feasibility and value of real-time genomic characterization of advanced PDAC.Significance: Molecular analyses of metastatic PDAC tumors are challenging due to the heterogeneous cellular composition of biopsy specimens and rapid progression of the disease. Using an integrated multidisciplinary biopsy program, we demonstrate that real-time genomic characterization of advanced PDAC can identify clinically relevant alterations that inform management of this difficult disease. Cancer Discov; 8(9); 1096-111. ©2018 AACR.See related commentary by Collisson, p. 1062This article is highlighted in the In This Issue feature, p. 1047.

| S-EPMC6192263 | biostudies-literature

Precision medicine for ABCA4 disease: modifier alleles

Project description:Precision medicine for ABCA4 disease: modifier alleles

| PRJNA717338 | ENA

Precision medicine for ABCA4 disease: modifier alleles

Project description:Precision medicine for ABCA4 disease: modifier alleles

| PRJNA717339 | ENA

The Brazilian Initiative on Precision Medicine (BIPMed)

Project description:The Brazilian Initiative on Precision Medicine (BIPMed)

| PRJNA658602 | ENA

PEDS-PLAN – Pediatric Precision Laboratory Advanced Neuroblastoma Therapy

Project description:PEDS-PLAN – Pediatric Precision Laboratory Advanced Neuroblastoma Therapy