lunes, 18 de mayo de 2015

JAMA Network | JAMA Oncology | Gene Mutation Profiling of Breast Cancers for Clinical Decision Making:  Drivers and Passengers in the Cart Before the Horse

open access ►

JAMA Network | JAMA Oncology | Gene Mutation Profiling of Breast Cancers for Clinical Decision Making:  Drivers and Passengers in the Cart Before the Horse

Viewpoint | 

Gene Mutation Profiling of Breast Cancers for Clinical Decision MakingDrivers and Passengers in the Cart Before the Horse FREEONLINE FIRST

Vered Stearns, MD1,2; Ben Ho Park, MD, PhD1,2
JAMA Oncol. Published online May 14, 2015. doi:10.1001/jamaoncol.2015.0761
Text Size: A A A
Recent advances in molecular profiling allow for a rapid and relatively inexpensive assessment of multiple altered genes or gene products from small amounts of tumor tissues or blood. The challenge ahead is how to properly incorporate these results into clinical practice, and how to provide patients with the best possible yet evidence-based care. Herein, we provide a brief overview of genetic mutation profiling with a focus on next-generation sequencing (NGS) and possible clinical utility.


Corresponding Author: Vered Stearns, MD, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, 1650 Orleans St, Room 144, Baltimore, MD 21287-0013 (
Published Online: May 14, 2015. doi:10.1001/jamaoncol.2015.0761.
Conflict of Interest Disclosures: Dr Stearns received research funding from Abbvie, Celgene, Medimmune, Merck, Novartis, and Pfizer. Dr Park received funding from Foundation Medicine and Genomic Health Inc and served as a consultant to Genomic Health Inc.
Funding/Support: Our research was funded by National Institutes of Health grant P30 CA06973, The Commonwealth Foundation, and The Santa Fe Foundation.
Role of the Funder/Sponsor: The funding sources had no role in the design and conduct of the research; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.


Cancer Genome Atlas Network.  Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70.
PubMed   |  Link to Article
Fuqua  SA, Gu  G, Rechoum  Y.  Estrogen receptor (ER) α mutations in breast cancer: hidden in plain sight. Breast Cancer Res Treat. 2014;144(1):11-19.
PubMed   |  Link to Article
Gerlinger  M, Rowan  AJ, Horswell  S,  et al.  Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366(10):883-892.
PubMed   |  Link to Article
Merenbakh-Lamin  K, Ben-Baruch  N, Yeheskel  A,  et al.  D538G mutation in estrogen receptor-α: a novel mechanism for acquired endocrine resistance in breast cancer. Cancer Res. 2013;73(23):6856-6864.
PubMed   |  Link to Article
Higgins  MJ, Jelovac  D, Barnathan  E,  et al.  Detection of tumor PIK3CA status in metastatic breast cancer using peripheral blood. Clin Cancer Res. 2012;18(12):3462-3469.
PubMed   |  Link to Article
Rothé  F, Laes  JF, Lambrechts  D,  et al.  Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer. Ann Oncol. 2014;25(10):1959-1965.
PubMed   |  Link to Article
Beaver  JA, Jelovac  D, Balukrishna  S,  et al.  Detection of cancer DNA in plasma of patients with early-stage breast cancer. Clin Cancer Res. 2014;20(10):2643-2650.
PubMed   |  Link to Article

No hay comentarios:

Publicar un comentario