A multiplex allele-specific real-time PCR assay for screening of ESR1 mutations in metastatic breast cancer.

Experimental and Molecular Pathology
Ting WangPeng-Gao Dai

Abstract

Acquired resistance to endocrine-based therapies occurs in virtually all estrogen receptor-α (ERα, encoded by ESR1) positive breast cancer patients. The underlying molecular mechanism is attributed to the activating mutations in ESR1. These mutations provide an exciting opportunity for the development of new antagonists that specifically inhibit the mutant proteins. Therefore, accurate detection of ESR1 mutations is of critical importance in clinical practice. We carried out a single tube, multiplex allele-specific real-time PCR assay for the detection of four ESR1 mutations (Y537S, Y537C, Y537N, and D538G). The assay was found to be highly specific and sensitive. With this assay, as low as 1% mutant DNA template in wild type DNA could be detected. Fifteen DNA samples were prepared from archived formalin-fixed paraffin-embedded metastatic breast cancer biopsies. They were further screened with this assay, and three samples were identified as ESR1 mutant. The results were validated with pyrosequencing and complete concordance was observed between the two assays. The multiplex allele-specific real-time PCR assay provides a rapid and reliable diagnostic tool for accurate detection of ESR1 mutations. This procedure may be used in t...Continue Reading

References

Mar 10, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Kathrin Strasser-Weippl, Paul E Goss
Mar 7, 2006·Current Topics in Medicinal Chemistry·Eric A AriaziV Craig Jordan
Aug 3, 2007·The Journal of Clinical Investigation·Daniel W Sherbenou, Brian J Druker
Oct 5, 2010·Annual Review of Medicine·C Kent Osborne, Rachel Schiff
Jan 14, 2011·The Journal of Molecular Diagnostics : JMD·Alois H LangAxel Muendlein
Feb 7, 2012·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Harkanwal HalaitH Jeffrey Lawrence
Apr 30, 2013·Endocrine-related Cancer·Per Eystein Lønning, Hans Petter Eikesdal
Nov 5, 2013·Nature Genetics·Dan R RobinsonArul M Chinnaiyan
Nov 5, 2013·Nature Genetics·Weiyi ToySarat Chandarlapaty
Nov 26, 2013·Nature Genetics·Steffi Oesterreich, Nancy E Davidson

❮ Previous
Next ❯

Citations

May 8, 2018·Hormones & Cancer·Sasha M PejerreySuzanne A W Fuqua
Dec 7, 2018·Expert Review of Anticancer Therapy·Carlos Martínez-PérezJ Michael Dixon
Jun 3, 2017·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Lucy R Yates, Christine Desmedt
May 10, 2020·Molecular Cancer Therapeutics·Kaitlyn J AndreanoDonald P McDonnell

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.