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Review
. 2021 Jul 1;22(13):7154.
doi: 10.3390/ijms22137154.

Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer

Martina Dameri  1 , Lorenzo Ferrando  1 , Gabriella Cirmena  1 , Claudio Vernieri  2   3 , Giancarlo Pruneri  4   5 , Alberto Ballestrero  1   6 , Gabriele Zoppoli  1   6
Affiliations
Review

Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer

Martina Dameri et al. Int J Mol Sci. .

Abstract

Next-generation sequencing (NGS) is the technology of choice for the routine screening of tumor samples in clinical practice. In this setting, the targeted sequencing of a restricted number of clinically relevant genes represents the most practical option when looking for genetic variants associated with cancer, as well as for the choice of targeted treatments. In this review, we analyze available NGS platforms and clinical applications of multi-gene testing in breast cancer, with a focus on metastatic triple-negative breast cancer (mTNBC). We make an overview of the clinical utility of multi-gene testing in mTNBC, and then, as immunotherapy is emerging as a possible targeted therapy for mTNBC, we also briefly report on the results of the latest clinical trials involving immune checkpoint inhibitors (ICIs) and TNBC, where NGS could play a role for the potential predictive utility of homologous recombination repair deficiency (HRD) and tumor mutational burden (TMB).

Keywords: breast cancer; gene panels; metastatic triple-negative breast cancer; multi-gene testing; next-generation sequencing; tumor mutational burden.

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Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Aguilera-Diaz A., Vazquez I., Ariceta B., Mañú A., Blasco-Iturri Z., Palomino-Echeverría S., Larrayoz M.J., García-Sanz R., Prieto-Conde M.I., Chillón M.D.C., et al. Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design. PLoS ONE. 2020;15:e227986. doi: 10.1371/journal.pone.0227986. - DOI - PMC - PubMed
    1. Fernandes M.G.O., Jacob M., Martins N., Moura C.S., Guimarães S., Reis J.P., Justino A., Pina M.J., Cirnes L., Sousa C., et al. Targeted gene next-generation sequencing panel in patients with advanced lung adenocarcinoma: Paving the way for clinical implementation. Cancers. 2019;11:1229. doi: 10.3390/cancers11091229. - DOI - PMC - PubMed
    1. Multigene Sequencing for Treatment Selection: ESMO Biomarker FACTSHEET|ONCOLOGYPRO. [(accessed on 28 June 2021)]; Available online: https://oncologypro.esmo.org/education-library/factsheets-on-biomarkers/....
    1. Multigene Sequencing in Breast Cancer: ESMO Biomarker FACTSHEET|ONCOLOGYPRO. [(accessed on 28 June 2021)]; Available online: https://oncologypro.esmo.org/education-library/factsheets-on-biomarkers/....
    1. Sung H., Ferlay J., Siegel R.L., Laversanne M., Soerjomataram I., Jemal A., Bray F. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 2021;71:209–249. doi: 10.3322/caac.21660. - DOI - PubMed

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