Carrie Fitzpatrick

TL;DR: Using oligonucleotide arrays, the breakpoints of this microdeletion were refined, defining a 478-kb critical region containing six genes that were deleted in all four individuals, and it was found that these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.

TL;DR: Sundar et al. as mentioned in this paper used multiregion sequencing to evaluate genomic heterogeneity in Gastroesophageal adenocarcinoma (GEA) and found that genomic biomarkers were recurrently discrepant between the primary tumor and untreated metastases.

TL;DR: Afatinib demonstrated significant activity in patients with platinum-refractory UC with HER2 or ERBB3 alterations and deserves further investigation in molecularly selected UC.

TL;DR: The clinical validation of 76 genes from a novel 1212-gene large-scale hybrid capture cancer sequencing assay is presented using full-data comparisons against multiple clinical NGS amplicon-based assays to yield dramatic increases in per-sample data comparison efficiency compared with previously published validations.

TL;DR: In patients who had Richter transformation, it is found that the transformed cells were clonal descendants of circulating leukemia cells but continued to undergo evolution and drifts, and transformed lymphoma cells in tissue may acquire a different BTK mutation from that in the CLL leukemia cells.