Mapping the mutations of twelve major cancer types

Aine D

Despite the gazillions of hours (and possibly as many dollars) spent searching for a cure for cancer, none has emerged. This is primarily because every tumor has a different mutational profile and therefore responds differently to treatment. The Cancer Genome Atlas is a consortium that was founded to use DNA sequencing to identify the most common, most significant mutations in cancers.

Ideally, this project will uncover new diagnostic markers and find new drug targets so we can achieve truly individualized medicine. In a paper that my thesis advisor would probably deride as “not hypothesis-driven,” they describe their analysis of 3,281 tumors from twelve different types of cancers, including breast, lung, colon, and ovarian carcinomas, as well as acute myeloid leukemia. The paper is in Nature (my boss would approve of that).

They analyzed 617,354 mutations, and found that 127 genes were significantly mutated. Many of the mutations occurred in genes that were previously known to be important in cancer, such as those encoding proteins that patrol for and prevent DNA damage and those that mobilize the cell’s response to various growth factors. But others were in cellular pathways not yet recognized as being vital in tumorigenesis. These included transcription factors, RNA splicing factors, and modifiers of histones, proteins responsible for maintaining the structural integrity of DNA.