Sequence analysis of mutations and translocations across breast cancer subtypes

This paper reports one of the largest breast cancer whole-exome and whole-genome sequencing efforts so far, identifying previously unknown recurrent mutations in CBFB, deletions of RUNX1 and recurrent MAGI1–AKT3 fusion; the fusion suggests that the use of ATP-competitive AKT inhibitors should be evaluated in clinical trials. This paper reports one of the largest whole-exome sequencing efforts in human breast cancers so far, complemented by whole-genome sequences of 22 breast cancer/normal pairs. The authors analysed diverse subtypes from patients in Mexico and Vietnam and identified recurrent mutations in the CBFB transcription factor gene and deletions of its partner RUNX1, as well as a recurrent MAGI3–AKT3…

• UO
  University of Manitoba
• BI
  Broad Institute
• IC
  Instituto Carlos Slim de la Salud
• IN
  Instituto Nacional de Medicina Genómica
• NI
  National Institutes of Health

  Award: CA122099
• NC
  National Cancer Institute