The mutation spectrum revealed by paired genome sequences from a lung cancer patient

Lung cancer mutations Complete genome sequencing has already provided insights into the mutation spectra of a number of cancer types, including lung cancer. The latest sequencing technologies mean that it is possible to provide a genome-wide view of mutation differences, and this has now been done for lung cancer, comparing the complete sequences of a primary lung tumour — an adenocarcinoma in a male who reported smoking an average of 25 cigarettes a day for 15 years — and adjacent normal tissue. The comparison revealed more than 50,000 point mutations of which 530 were validated, 392 of them in coding regions, including previously known variations such as KRAS proto-oncogene mutation and amplification. The data suggest that genetically complex tumours may contain many partially redundant mutations, and that identifying recurrent cancer-causing driver mutations will require the sequencing of many more samples yet.