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.
