Breast cancer–related regulator of tp53
Breast cancer–related regulator of tp53 is a protein that in humans is encoded by the BRCA1 gene. It is a tumor suppressor protein that, in combination with other crucial proteins, plays a significant role in maintaining the stability of the cell's genome and preventing uncontrolled cell growth.
Function[edit | edit source]
The BRCA1 gene product combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). The BRCA1 protein is involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks. If BRCA1 or any of the other proteins it associates with are damaged, it may not be able to carry out its function and damage to the DNA may not be repaired properly. As a result, cells are more likely to become cancerous.
Clinical significance[edit | edit source]
Mutations in the BRCA1 gene are associated with a significant increase in the risk of breast and ovarian cancers. In addition, men carrying BRCA1 mutations have a higher risk of breast cancer and prostate cancer.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
