Seven of these mutations were detected in genes of high prognostic or therapeutic significance, including PTEN, TP53, APC, MET, and ALK, and six additional mutations were discovered in six potentially actionable genes, ERBB4, PARP1, CSF1R, SMARCA4, FBXW7, and NTRK3.
There is consensus in the literature about its final characteristics: a good report should be timely, correct, complete and "actionable" [12, 16].
These works on tumor genetic profiling have demonstrated that tumors of different types can share protumorigenic signaling pathways, defined by common driver mutations which could also be actionable 6.
Although all platforms start with a careful selection of a tumour specimen, they differ remarkably with respect to sensitivity and specificity for the V600E and especially for the rare (actionable) mutations V600K, V600D, V600R, and others.
Current thinking suggests that these variants should have clinical relevance, have implications for health and are medically actionable [ 26, 33, 40].
Forty-three system-related alerts occurred; 42% were asymptomatic, 42% were actionable, and 22 of 43 (51%) were viewed within 24 h.
But even for cancer treatment assignment, only several hundred somatic mutations are currently viewed as actionable [ 15, 16].
We take the intermediate position in both of our protocols by giving research participants the choice to receive results, including variants deemed to be clinically actionable [ 3, 15].
The most common MA-identified actionable biomarker (13 of 17 evaluable patients, 76.5%) was overexpression of the gene for topoisomerase II alpha (TOP2A), which may be associated with response to anthracyclines [ 30, 31].
The most common IHC-identified actionable biomarker (27 of 28 evaluated samples, 96.4%) was low/negative thymidylate synthase (TS), which may be associated with response to fluoropyrimidines and other folate analogs [ 24– 26].
Among cases defined as actionable by 4/5 or 5/5 Panel Radiologists that were acquired 9 24 months before the cancer was actually detected, the CAD system correctly identified features suggestive of cancer in 95% of cases.
