Molecular epidemiology: the role of the Cancer Genome Atlas throughout history

Epidemiología molecular: el papel del Atlas del Genoma del Cáncer a lo largo de la historiaa

Background: the Cancer Genome Atlas (TCGA) was a large international, multi-institutional initiative designed to comprehensively characterize the molecular landscape of clinically relevant human cancers. This review summarizes its major contributions, as well as the limitations and challenges arising from its implementation.

Methods: a structured literature search was conducted in PubMed, EMBASE, and Web of Science to identify publications related to TCGA, including studies reporting its results, methodological approaches, limitations, and clinical and translational implications.

Results: eighty-eight relevant publications were identified. TCGA analyzed more than 20.000 tumor samples across 33 cancer types, integrating genomic, transcriptomic, epigenomic, and proteomic data. Major contributions include: a) redefinition of tumor classification through molecular subtyping; b) identification of oncogenic pathways and actionable alterations with therapeutic relevance, such as IDH1 mutations in gliomas and molecular subtypes in breast, endometrial, and gastric cancers; c) validation of prognostic and predictive biomarkers; and d) development of open-access genomic databases that enabled translational research and basket-type clinical trials. In 2018, the Pan-cáncer Atlas revealed shared biological features across tumor types, reinforcing a genome-driven, theragnostic framework. Limitations include population under-representation, clinical data heterogeneity, and barriers to implementation in resource-limited settings.

Conclusions: TCGA represented a landmark in precision oncology by transforming the understanding of tumor biology and facilitating the development of targeted therapeutic strategies. Its datasets remain a foundational resource for global cancer research and translational innovation.