Details

Autor(en) / Beteiligte

• Kwa, Maryann
• Makris, Andreas
• Esteva, Francisco J.

Titel

Clinical utility of gene-expression signatures in early stage breast cancer

Ist Teil von

• Nature reviews. Clinical oncology, 2017-10, Vol.14 (10), p.595-610

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2017

Quelle

MEDLINE

Beschreibungen/Notizen

• Key Points Breast cancer is not a single, homogenous disease, but a heterogeneous group of different disease subtypes, each with its own biological and clinical characteristics Methods to enhance the identification of individuals with high-risk disease, who would benefit from more-intensive treatment are an area of expanding research interest The development of multigene assays has led to improvements in predicting the risk of recurrence in patients with early stage oestrogen receptor (ER)-positive, HER2-negative breast cancer, compared with use of standard prognostic criteria Several multigene assays, including Oncotype DX, Prosigna, and MammaPrint have emerged as well-studied technologies and have already been incorporated into clinical practice, to some extent In 2016, the ASCO Breast Cancer Guidelines Advisory Group and Clinical Practice Guidelines Committee published updated guidelines for the use of biomarkers, including gene-expression assays, to help guide the use of adjuvant systemic therapy Several large, randomized trials are currently ongoing and aim to prospectively evaluate and further validate the performance of these assays, in order to provide the highest level of evidence of clinical utility Patients with early stage breast cancer have traditionally been assigned adjuvant systemic therapies on the basis of the clinical and histological characteristics of their disease. However, this approach often leads to overtreatment. In this Review, the authors describe the use of gene-expression signatures, some of which are already in clinical use, for determining the risks of recurrence and progression, and the most appropriate form of adjuvant therapy. Breast cancer is a heterogeneous disease, with different subtypes having a distinct biological, molecular, and clinical course. Assessments of standard clinical and pathological features have traditionally been used to determine the use of adjuvant systemic therapy in patients with early stage breast cancer; however, the ability to identify those who will benefit from adjuvant chemotherapy remains a challenge, leading to the overtreatment of some patients. Advances in molecular medicine have substantially improved the accuracy of gene-expression profiling of breast tumours, resulting in improvements in the ability to predict a patient's risk of breast cancer recurrence and likely response to endocrine therapy and/or chemotherapy. These genomic assays, several of which are commercially available, have aided physicians in tailoring treatment decisions for patients at the individual level. Herein, we describe the available data on the clinical validity of the most widely available assays in patients with early stage breast cancer, with a focus on the development, validation, and clinical application of these assays, in addition to the anticipated outcomes of ongoing prospective trials. We also review data from comparative studies of these assays and from cost-effectiveness analyses relating to their clinical use.