Assessment of significant procedures in multigene molecular detection for breast cancer in clinical laboratories: from variant detection to targeted therapy.

Breast Cancer : the Journal of the Japanese Breast Cancer Society
Rui ZhangJinming Li

Abstract

In recent years, numerous novel targeted drugs against breast cancer have been developed because of the rapid progress in multigene molecular testing based on next-generation sequencing (NGS). However, it is a great challenge for clinicians to update the drug information timely, therefore necessitating that clinical laboratories provide adequate and comprehensive targeted drugs information to clinicians as a reference. The premise of providing this information is the accuracy of variant detection. Our study aimed to assess the entire process of variant detection, interpretation, and targeted therapy. Laboratories were instructed to use routine methods for variant detection. The results were evaluated based on a predefined score system, and differences in variant interpretation were analyzed. Targeted drug information provided by laboratories was also summarized, and its accuracy and sufficiency were assessed. Overall, 90.1% (82/91) of the laboratories produced accurate results. 78.9% (15/19) of the errors were false positives or false negatives. Incorrect and insufficient drug information was mainly provided due to failure in timely database updating, inconsistencies with the detected mutations or given clinical information, an...Continue Reading

References

Mar 26, 2004·Cancer Letters·André Nkondjock, Parviz Ghadirian
May 10, 2006·Nature Clinical Practice. Oncology·Rita NahtaFrancisco J Esteva
Nov 24, 2006·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Jorge Sergio Reis-FilhoAlan Ashworth
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·C Sue RichardsUNKNOWN Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
Feb 24, 2011·Expert Review of Anticancer Therapy·Devika Gajria, Sarat Chandarlapaty
May 23, 2012·Breast Cancer Research and Treatment·Tobias J GrobAnnette Lebeau
Aug 31, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Takafumi SangaiFunda Meric-Bernstam
Nov 20, 2012·Annals of Oncology : Official Journal of the European Society for Medical Oncology·F CardosoUNKNOWN ESMO Guidelines Working Group
Dec 12, 2012·Cancer Discovery·Ron BoseMatthew J Ellis
Mar 6, 2013·Nature Reviews. Clinical Oncology·Dimitrios ZardavasMartine Piccart
May 10, 2013·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Fabrice AndréJosé Baselga
Nov 28, 2013·Annual Review of Medicine·Linghua Wang, David A Wheeler
Jun 1, 2014·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Laleh Amiri-KordestaniPatricia Cortazar
Sep 11, 2014·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Laleh Amiri-KordestaniPatricia Cortazar
Jan 30, 2015·Clinical Chemistry·Ken ChenAgda Karina Eterovic
Feb 19, 2015·The New England Journal of Medicine·Sandra M SwainUNKNOWN CLEOPATRA Study Group
Jul 19, 2015·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Geoffrey KimRichard Pazdur
Feb 28, 2016·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·José BaselgaMark D Pegram
Mar 5, 2016·Human Mutation·Johan T den DunnenPeter E M Taschner
Apr 20, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Fabrice AndréDennis Slamon
Jul 7, 2017·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Cynthia X MaMatthew J C Ellis
Aug 6, 2017·Cancer Discovery
Sep 28, 2017·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Mathilde GuerinAnthony Gonçalves
Feb 6, 2018·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Dejan JuricJosé Baselga
Dec 7, 2018·Drugs·Sheridan M Hoy

❮ 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.