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Review Article


Genomic assays in breast cancer: Issues yet to settle?

Maheboob M. BasadeVishwapriya M. Godkhindi
Department of Medical Oncology, Saifee Hospital, Mumbai, Maharashtra, India
Corresponding Author:

Maheboob M. Basade

Department of Medical Oncology, Saifee Hospital, Mumbai, Maharashtra, India
E-mail: basade@gmail.com

Corresponding Author:

Maheboob M. Basade

Department of Medical Oncology, Saifee Hospital, Mumbai, Maharashtra, India
E-mail: basade@gmail.com

DOI:10.18203/issn.2456-3994.IntJMolImmunoOncol20164383

ABSTRACT


Breast cancer today has emerged as the most commonly diagnosed malignancy in women world wide, accounting for 1 in 4 of every cancer diagnosed in women today. It is the leading cause of cancer death in women in the developing world and second leading cause of cancer (following lung cancer) in the developed world. Introduction of novel high through-output gene expression profiling technologies such as Next Generation Sequencing (NGS) and Genome wide association studies (GWAS) has led to the genetic profiling of breast cancer and to the development of genomic assays that ushered in an paradigm shift in the management of breast cancer from single individual variable to multivariate prediction models encompassing the tumors gross, microscopic and genetic variables. Oncotype DX, MammaPrint assay, MammoStrat assay, & Prosigna kit are some of the commercially available assays in various stages of validation. But various studies have reported discordance in risk stratification when the different tests is applied to the same patient cohort leading to a therapeutic quagmire. Tumor genetic signatures are not concordant but highly variable with each carrying its own unique set of genes dictating its growth, response to chemotherapy and risk of recurrence. Similarly triple negative breast cancers (TNBC), risk of late recurrence (> 5 years), validity of these over different population groups and quality control are some of the other issues which are yet to settle.
Keywords: Gene expression profiling, Prognostic assays, Multigene assays