A team from Genentech reports their findings in this week's Nature 465, 473-477 (27 May 2010) of direct tumor sequencing of a 51-year-old man with a 19-pack-year smoking history. Note the greater than 50,000 mutations compared with paired "normal" lung. (egads!!!) Not surprisingly, they found mutation of KRAS. The magnitude and breadth of mutations is staggering and was surprising to the researchers. Certainly give pause to ongoing efforts to identify oncogene-addicted tumors amenable to targeted therapy.
excerpt from abstract:
Here we present the complete sequences of a primary lung tumour (60× coverage) and adjacent normal tissue (46×). Comparing the two genomes, we identify a wide variety of somatic variations, including >50,000 high-confidence single nucleotide variants. We validated 530 somatic single nucleotide variants in this tumour, including one in the KRAS proto-oncogene and 391 others in coding regions, as well as 43 large-scale structural variations.
HealthDay has a nice accompanying article with an interview of the PI.
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