Oncotarget Volume 11, Issue 35 published "Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer–experiences from a case series" by Walter et, al. which reported that although prognosis of patients with early breast cancer has improved over the last decades, metastatic breast cancer remains incurable.
Despite increasing therapeutic options regarding systemic treatment, predicting efficacy of a targeted drug on a patient level is still challenging. Although patients are faced with seemingly identical clinical and pathological diagnoses, their tumor genome, transcriptome, proteome, metabolome, the tumor environment, microbiome, patient's immune system, and many other factors highly differ.
Regarding breast cancer it is, however, not clear whether a large sequencing panel approach beyond the known biomarkers can actually aid decision-making.
Here, the authors performed a retrospective analysis of advanced breast cancer patients that underwent next-generation sequencing using a panel that covers more than 600 genes.
"The authors performed a retrospective analysis of advanced breast cancer patients that underwent next-generation sequencing using a panel that covers more than 600 genes"
The aim of their study was to determine the frequency of actionable mutations per patient and to analyze whether the respective new treatment suggestions are already approved for breast or other types of cancer or available within clinical trials.
Dr. Andreas Hartkopf from The Department of Women's Health at The University of Tuebingen said, "Breast cancer is the most frequent cancer disease among woman."
Figure 1: Genes with reported mutations order by number of patients affected. (A) By number of hits. In most patients, genes are only affected by a single mutation, while some genes, notably TP53, PTEN and CDH1 are often affected by two hits (e.g., SNV and deletion). (B) By type of mutation. Dashed borders indicate double-hit cases (see top panel). PIK3CA is mostly affected by missense SNVs while TP53 has a large number of deletions reported.
Although prognosis of patients with early breast cancer has improved over the last decades, metastatic breast cancer remains incurable.
Regarding breast cancer it is, however, not clear whether a large sequencing panel approach beyond the known biomarkers can actually aid decision-making.
The aim of the study was to determine the frequency of actionable mutations per patient and to analyze whether the respective new treatment suggestions are already approved for breast or other types of cancer or available within clinical trials.
The Hartkopf Research Team concluded in their Oncotarget Research Paper, "This study has several limitations. First, the patient cohort is very small and our analysis had a retrospective design. Second, we have variability in the clinical situation, time point of tissue sampling, and time point of sequencing. Third, no data on the efficacy of targeted-related treatment and no follow-up data are available."
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DOI - https://doi.org/10.18632/oncotarget.27704
Full text - https://www.oncotarget.com/article/27704/text/
Correspondence to - Andreas Hartkopf - [email protected]
Keywords - breast cancer, genetics, next-generation sequencing, actionable mutations
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