Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1 (EWSR1), also known as EWS, is a gene that is associated with Ewing sarcoma, a rare type of cancer that occurs in bones or in the soft tissue around the bones. This gene is located on the long (q) arm of chromosome 22 at position 12.2.
Function[edit | edit source]
The EWSR1 gene provides instructions for making a protein called EWS protein. This protein is found in the nucleus of cells, where it is involved in several important cellular activities. The EWS protein plays a role in RNA splicing, a process that modifies RNA molecules to produce different proteins. It also participates in DNA repair and apoptosis, or programmed cell death.
Role in disease[edit | edit source]
Mutations in the EWSR1 gene are associated with Ewing sarcoma. These mutations are not inherited but occur in body cells during a person's lifetime. The most common mutation in Ewing sarcoma involves a rearrangement (translocation) of genetic material between chromosomes. This translocation, written as t(11;22)(q24;q12), fuses part of the EWSR1 gene on chromosome 22 with part of the FLI1 gene on chromosome 11. The resulting EWS-FLI1 fusion gene produces a protein that promotes cell growth and division, leading to the development of Ewing sarcoma.
Clinical significance[edit | edit source]
The detection of the EWS-FLI1 fusion gene is a key diagnostic tool for Ewing sarcoma. It can be identified through various laboratory tests, including fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). The presence of the EWS-FLI1 fusion gene is a strong indicator of Ewing sarcoma, although it can also be found in other types of cancer.
See also[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD