Standard and Genomic Tools for Decision Support in Breast Cancer Treatment

2017 ◽  
pp. 106-115
Author(s):  
N. Lynn Henry ◽  
Philippe L. Bedard ◽  
Angela DeMichele
Keyword(s):  
Breast Cancer ◽  
Early Stage ◽  
Genetic Alterations ◽  
Great Promise ◽  
Clinical Settings ◽  
Genomic Assays ◽  
Genomic Tools ◽  
Generation Sequencing ◽  
Comprehensive Characterization

Over the past few decades, comprehensive characterization of the cancer genome has elucidated pathways that drive cancer and mechanisms of resistance to therapy and provided important insights for development of new therapies. These advances have resulted in the development of prognostic and predictive tools for use in clinical settings, which can assist clinicians and patients in making informed decisions about the benefits of established therapies. In early-stage breast cancer, multiparameter genomic assays are now available for decision making about the duration of adjuvant endocrine therapy and the use of adjuvant chemotherapy. Similarly, in metastatic disease, there are multiple commercially available next-generation sequencing options for identifying genetic alterations in tumors that may be targeted with a drug. Although these tools hold great promise for providing precision medicine, it can be difficult for the treating physician to evaluate their clinical utility and appropriately select tools for individual clinical situations. This review summarizes the currently available genomic tools in breast cancer, the data underlying their clinical validity and utility, and how they can be used in conjunction with standard clinicopathologic data for making adjuvant and metastatic treatment decisions.

scholarly journals Case-Based Review and Clinical Guidance on the Use of Genomic Assays for Early-Stage Breast Cancer: Breast Cancer Therapy Expert Group (BCTEG)

2020 ◽  
Vol 20 (3) ◽  
pp. 183-193 ◽  
Author(s):  
Muaiad Kittaneh ◽  
Sunil Badve ◽  
Humberto Caldera ◽  
Robert Coleman ◽  
Matthew P. Goetz ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Therapy ◽  
Early Stage ◽  
Early Stage Breast Cancer ◽  
Expert Group ◽  
Breast Cancer Therapy ◽  
Clinical Guidance ◽  
Cancer Breast ◽  
Genomic Assays ◽  
Case Based

scholarly journals Breast Cancer: A Molecularly Heterogenous Disease Needing Subtype-Specific Treatments

2020 ◽  
Vol 8 (1) ◽  
pp. 18 ◽  
Author(s):  
Ugo Testa ◽  
Germana Castelli ◽  
Elvira Pelosi
Keyword(s):  
Breast Cancer ◽  
Genomic Instability ◽  
Hormone Receptors ◽  
Early Stage ◽  
Brca Mutation ◽  
Clonal Evolution ◽  
Metastatic Breast ◽  
Genetic Alterations ◽  
Telomere Maintenance ◽  
Molecular Features

Breast cancer is the most commonly occurring cancer in women. There were over two-million new cases in world in 2018. It is the second leading cause of death from cancer in western countries. At the molecular level, breast cancer is a heterogeneous disease, which is characterized by high genomic instability evidenced by somatic gene mutations, copy number alterations, and chromosome structural rearrangements. The genomic instability is caused by defects in DNA damage repair, transcription, DNA replication, telomere maintenance and mitotic chromosome segregation. According to molecular features, breast cancers are subdivided in subtypes, according to activation of hormone receptors (estrogen receptor and progesterone receptor), of human epidermal growth factors receptor 2 (HER2), and or BRCA mutations. In-depth analyses of the molecular features of primary and metastatic breast cancer have shown the great heterogeneity of genetic alterations and their clonal evolution during disease development. These studies have contributed to identify a repertoire of numerous disease-causing genes that are altered through different mutational processes. While early-stage breast cancer is a curable disease in about 70% of patients, advanced breast cancer is largely incurable. However, molecular studies have contributed to develop new therapeutic approaches targeting HER2, CDK4/6, PI3K, or involving poly(ADP-ribose) polymerase inhibitors for BRCA mutation carriers and immunotherapy.

scholarly journals Clinical application and utility of genomic assays in early-stage breast cancer: key lessons learned to date

2018 ◽  
Vol 25 ◽  
pp. 125 ◽  
Author(s):  
S.K.L. Chia
Keyword(s):  
Breast Cancer ◽  
Health Care Providers ◽  
Hormone Receptor ◽  
Early Stage ◽  
Prospective Trial ◽  
Lessons Learned ◽  
Her2 Status ◽  
Care Providers ◽  
Screening Programs ◽  
Genomic Assays

Early-stage hormone receptor–positive breast cancer is the most common subtype and stage presenting in countries with organized screening programs. Standard clinical and pathologic factors are routinely used to support prognosis and decisions about adjuvant therapies. Hormone receptor and her2 status are essential for decision-making about the use of adjuvant hormonal and anti-her2 therapies respectively. Genomic assays are now commercially available to aid in either further prognostication or in refining the potential benefit of adjuvant chemotherapy. The current genomic assays all generally quantify estrogen receptor and proliferation gene sets (among others) by rna expression, although the specific genes assayed are quite discordant. The present review focuses on the pivotal studies in which each assay attempted to demonstrate clinical utility, with an emphasis on prospective trial data for each assay, if available. Using genomic assays, health care providers will increasingly be able to individualize therapy or de-escalate therapy, optimizing clinic benefit while minimizing toxicities from systemic therapies.

Optimizing Chemotherapy in Triple-Negative Breast Cancer: The Role of Platinum

2014 ◽  
pp. e37-e42 ◽  
Author(s):  
Melinda Telli
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Randomized Clinical Trials ◽  
Triple Negative ◽  
Early Stage ◽  
Breast Cancer Subtype ◽  
Brca2 Mutation ◽  
Genetic Alterations ◽  
Brca1 And Brca2 ◽  
Repair Capacity

Although characterization of triple-negative breast cancer (TNBC) using mRNA gene expression profiling has certainly provided important insights, the concept of targeting DNA repair defects with DNA damaging therapeutics such as platinum in TNBC has been advanced from studies focusing on both germline and somatic genetic alterations associated with this breast cancer subtype. A growing body of preclinical and clinical data suggests that platinum chemotherapy has a potential role to play in the treatment of both early-stage and advanced TNBC, though results are not yet definitive. Randomized clinical trials that incorporate biomarkers of response, including germline BRCA1 and BRCA2 mutation status as well as tumor-based measures of genomic “scarring” resulting from the accumulation of DNA damage in tumors with deficient repair capacity, will help to clarify the optimal use and activity of platinum in TNBC.

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