Juan Carlos Fernández-López

TL;DR: In this article, the authors analyzed whole-exome sequencing data from 74 tumor-normal pairs and found that at least 30% of cases harbored mutations in genes that regulate squamous differentiation (for example, NOTCH1, IRF6, and TP63), implicating its dysregulation as a major driver of HNSCC carcinogenesis.

TL;DR: Recurrent somatic mutations in PIK3CA, TP53, AKT1, GATA3 and MAP3K1 are confirmed and a recurrent MAGI3–AKT3 fusion enriched in triple-negative breast cancer lacking oestrogen and progesterone receptors and ERBB2 expression is identified.

TL;DR: It is shown that BCL2 mutations commonly occur in patients with BCL 2/IgH rearrangements as a result of somatic hypermutation normally occurring at the IgH locus, and an algorithm designed to identify likely functionally relevant but infrequent mutations is identified as likely drivers of DLBCL pathogenesis in some patients.

TL;DR: It is shown that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America.

TL;DR: Analysis in Mexican and Latin American individuals identified SLC16A11 as a novel candidate gene for type 2 diabetes with a possible role in triacylglycerol metabolism and an archaic genome sequence indicated that the risk haplotype introgressed into modern humans via admixture with Neanderthals.