Broad, hybrid capture-based next generation sequencing identified actionable genomic alterations in HER2-negative breast cancer.

Should next-generation sequencing tests be performed on all cancer patients?

“…One study recently showed that as many as 37% of the patients who received broad-based NGS testing have at least one clinically relevant mutation that could be targeted with either an off-label therapy or through a registered clinical trial (9). Another recent study revealed that nearly 200 cancers of unknown primary site harbored at least one clinically relevant molecular alteration (10).…”

“…Another recent study revealed that nearly 200 cancers of unknown primary site harbored at least one clinically relevant molecular alteration (10). Furthermore, disease-specific studies have shown that up to 83% of the biliary cancers have clinically relevant genomic alterations, 67 actionable mutations were detected from 48 ovarian epithelial carcinomas, and over 40% of HER2-negative breast cancers had potentially targetable genomic alterations when NGS-based testing is used to identify tumor-derived genomic alterations [9][10][11][12]. These studies indicate that NGS-based molecular profiling is broadly applicable to numerous tumor types and support the notion that NGS testing can elucidate potential treatment options for patients with metastatic disease.…”

“…As discussed above, one report shows as many as 37% of the patients who received broad-based NGS testing have at least one clinically relevant mutation that could be targeted with either an off-label therapy or through a registered clinical trial, and numerous tumor typesincluding cancers of unknown primarycan harbor potentially actionable mutations [9][10][11][12]16,28]. Recent, albeit small, studies have also investigated not only the identification of potentially actionable mutations by NGS-based tests but also the associated patient outcomes.…”