BRSK2


brsk2

Description

BRSK2, also known as BROURNE-KOSKINAS-RAUBENHEIMER 2, is a gene located on chromosome 20q13.12. It encodes a protein called BRK2, which plays a crucial role in various cellular processes, including cell cycle regulation, cell growth, and DNA repair.

Associated Diseases

Mutations in the BRSK2 gene have been linked to several inherited disorders, including:

  • Li-Fraumeni syndrome: A rare genetic condition that predisposes individuals to a high risk of cancer, particularly breast cancer, sarcoma, leukemia, and brain tumors.
  • Familial breast cancer: An inherited form of breast cancer that accounts for approximately 5-10% of all breast cancer cases.
  • Sarcoma: A type of cancer that develops in the connective tissues, including bone, muscle, fat, and cartilage.
  • Leukemia: A cancer of the blood-forming tissues.
  • Glioma: A type of brain tumor.

Did you Know ?

Approximately 1 in 500 people carry a mutation in the BRSK2 gene. However, only a small percentage of these individuals will develop cancer. The risk of developing cancer varies depending on the specific mutation and other genetic and environmental factors.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.