Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants
Cet article passe en revue les travaux récents relatifs à l'usage de techniques de séquençage du génome entier pour identifier des variants de la lignée germinale et des mutations de gènes en association avec un cancer, en particulier un cancer colorectal
Whole-genome sequencing (WGS) is revolutionizing medical research and has the potential to serve as a powerful and cost-effective diagnostic tool in the management of cancer. We review the progress to date in the use of WGS to reveal how germline variants and mutations may be associated with cancer. We use colorectal cancer as an example of how the current level of knowledge can be translated into predictions of predisposition. We also address challenges in the clinical implementation of the variants in germline DNA identified through cancer genome sequencing. We call for the international development of standards to facilitate the clinical use of germline information arising from diagnostic cancer genome sequencing.
Science , résumé, 2013