Abstract
Breast cancer research and clinical care have reached a new era due to the development of modern genetic technologies. In the past, breast cancer diagnosis, prognosis and treatment decisions were based on, clinical and pathological analysis of the breast cancer tissues and axillary lymph nodes. It has been observed that the prognosis and recommendation about treatment based on these features, imperfectly predict the outcome and results in excessive treatment and chemotherapy, with marginal benefits. Hence new methods are needed to understand breast cancer properly, to optimize and individualize the breast cancer treatment and prognosis. The development of the gene microarray techniques has enabled scientists to detect the different gene expression array of thousands of gene simultaneously and thus create a gene expression profile for different types of breast cancers. Gene expression profiling of the breast cancers has improved our understanding of the heterogeneity of breast cancer on the genomic level; challenged the clinical classification of breast cancer; served as an important prognostic indicator and most importantly, begin to guide our treatment in women with early breast cancer. Incorporation of molecular assays into the treatment and planning strategy of breast cancer continues to be a work in progress. This approach is evolving quickly due to strong scientific pieces of evidence to become a standard of practice in the near future. This article provides an overview of the development and application of molecular assays as applied to breast cancer.
Highlights
Breast cancer is an umbrella designation which includes different tumor subtypes
5. 21 gene score: It is the most widely used gene expression profile prognostic model in the U.S It was developed through evaluation of 250 genes that could putatively correlate with breast cancer recurrence based on existing literature, database, and experimental evidence to identify a 21 gene including 16 cancer-related genes and five reference genes
Gene expression profiling is enabling scientists to understand the heterogeneous nature of breast cancer on the genomic level
Summary
Breast cancer is an umbrella designation which includes different tumor subtypes. These subtypes differ in their prognosis and their response to treatment.[1]. 2. 70 gene profile: The 70 genes prognostic signature is developed by the Netherland Cancer Institute from the primary breast cancer cases.[44,45] The signature showing prognostic value for distant metastasis within 5 years was first identified using a cohort of 76 node-negative breast cancers occurring in women below age 55 who had not received systemic adjuvant therapy using oligonucleotide microarrays This signature included mainly the genes involved in the cell cycle invasion, metastasis, angiogenesis, and signal transduction. This gene profile was validated on a larger set of 295 young patients including both node negative and positive breast tumours in treated and untreated patients from same institution, and proved to be the strongest predictor for distant metastasis-free survival, independent of adjuvant treatment, tumour size, histological grade and age, both in node-negative and node-positive patients. This same group provided additional evidence for the prognostic performance of their predictor in a multicentric cohort of 180 node negative untreated breast cancer patients obtained from different institutions.[47]
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