Michael R. Stratton

TL;DR: Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes and were associated with down-regulation of key gene networks, including core mitochondrial pathways.

TL;DR: Using massively parallel sequencing technology, a small-cell lung cancer cell line, NCI-H209, is sequenced to explore the mutational burden associated with tobacco smoking and identifies a tandem duplication that duplicates exons 3–8 of CHD7 in frame, and another two lines carrying PVT1–CHD7 fusion genes, indicating that ChD7 may be recurrently rearranged in this disease.

TL;DR: This work models mutational processes as a blind source separation problem and provides a basis for characterizing mutational signatures from cancer-derived somatic mutational catalogs, paving the way to insights into the pathogenetic mechanism underlying all cancers.

TL;DR: The biological mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCa2 mutations, which is consistent with participation of the encoded proteins in the same pathway.