A Variant Here, But Not There

David Basanta at Cancerevo: Evolution and cancer picked up on a Human Mutatation paper from Bruce Gottlieb and his colleagues that studied the genetic influences on abdominal aortic aneurysms. The researchers found BAK1 SNPs in aneurysmic and healthy tissue without seeing them in the corresponding blood samples. From this, Gottlieb and his colleagues "propose a novel hypothesis postulating that multiple variants of genes may preexist in 'minority' forms within specific nondiseased tissues and be selected for, when intra- and/or extracellular conditions change." This raised a lot of questions in Basanta's mind. He wonders: "How would this affect personalised treatments (i.e. based on doing a genomic analysis of the patient)? Does that mean that finding genetic differences in a cell (when compared with cells in other tissues) does not necessarily constitute cause for alarm (as it does not have to be the result of somatic mutations)?"