Whole exome sequencing for cancer indications
Record ID 32013000830
English
Authors' recommendations:
Cancers are characterized by the accumulation of genetic alterations that result in dysfunction in regulation of cell growth. In 2013, > 1.6 million individuals are expected to be diagnosed with cancer and > 580,000 deaths are expected to occur in the United States. Standard treatment options for most cancers include surgery, chemotherapy, and radiation. However, depending on the stage and site of the cancer, treatment regimens may vary. In the past decade, next-generation technologies that conduct rapid sequencing of DNA segments have been providing detailed information on genetic variants. Massively parallel sequencing is allowing generation of data across the entire genome. Whole exome sequencing (WES) involves sequencing the protein coding regions (called exons) of all of an individual's genes (known as the exome). While exons represent only 1% of the genome, they account for approximately 85% of disease-causing variants. Through identification of variants across the exome, WES avoids the need to run multiple single-gene tests, which require prior information about variants affecting the disease. WES has been performed in a number of cancers, whereby comparison between tumor DNA and normal DNA from the same individual allows identification of variants specific to the tumor. In addition, tumors are highly heterogeneous, i.e., number, type, and specific gene variants differ both between tumors of the same type and within a given tumor. Consequently, identification of protein-altering (and possibly deleterious) variants using WES may provide information on potential new avenues for diagnosis and treatment.
Details
Project Status:
Completed
Year Published:
2013
URL for published report:
The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15427
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Exome
- Neoplasms
Contact
Organisation Name:
HAYES, Inc.
Contact Address:
157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
saleinfo@hayesinc.com
Contact Email:
saleinfo@hayesinc.com
Copyright:
2013 Winifred S. Hayes, Inc
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.