BRCA1

Definition

BRCA1 is a tumor suppressor gene that plays a crucial role in DNA repair and cell cycle regulation. Mutations in the BRCA1 gene are associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancer.

5 Must Know Facts For Your Next Test

1. Individuals with a BRCA1 mutation have a significantly higher lifetime risk of developing breast cancer (up to 72%) and ovarian cancer (up to 44%).
2. BRCA1 is involved in the repair of double-stranded DNA breaks through the homologous recombination pathway.
3. Mutations in BRCA1 can lead to genomic instability, which increases the likelihood of additional genetic alterations and the development of cancer.
4. BRCA1 interacts with other proteins, such as BRCA2 and RAD51, to facilitate DNA repair and maintain genomic integrity.
5. Targeted therapies, such as PARP inhibitors, have been developed to exploit the DNA repair deficiencies in BRCA1-mutated cancer cells.

Review Questions

• Explain the role of BRCA1 in the context of cancer development and progression.
  • BRCA1 is a tumor suppressor gene that plays a critical role in maintaining genomic stability and preventing the development of cancer. When BRCA1 is mutated, it can lead to impaired DNA repair and cell cycle regulation, which increases the likelihood of additional genetic alterations and the transformation of normal cells into cancerous ones. Individuals with BRCA1 mutations have a significantly higher lifetime risk of developing certain types of cancer, particularly breast and ovarian cancer, due to the loss of this important tumor suppressor function.
• Describe the relationship between BRCA1 and the homologous recombination pathway of DNA repair.
  • BRCA1 is a key player in the homologous recombination pathway, which is responsible for repairing double-stranded DNA breaks. BRCA1 interacts with other proteins, such as BRCA2 and RAD51, to facilitate the accurate repair of DNA damage. By participating in this DNA repair process, BRCA1 helps maintain genomic integrity and prevent the accumulation of genetic alterations that could lead to cancer development. Mutations in BRCA1 can impair its ability to engage in homologous recombination, resulting in genomic instability and an increased risk of cancer.
• Discuss the implications of BRCA1 mutations for cancer treatment, including the development of targeted therapies.
  • The identification of BRCA1 mutations has had significant implications for cancer treatment. Since BRCA1-mutated cancer cells have deficiencies in DNA repair, they are particularly vulnerable to certain types of targeted therapies, such as PARP inhibitors. PARP inhibitors exploit the DNA repair deficiencies in BRCA1-mutated cells, leading to cell death and inhibiting tumor growth. The development of these targeted therapies has provided new treatment options for individuals with BRCA1-associated cancers, potentially improving outcomes and reducing the side effects associated with traditional chemotherapies. Understanding the role of BRCA1 in cancer development has also enabled the implementation of preventive strategies, such as increased screening and prophylactic surgeries, for individuals with known BRCA1 mutations.

Related terms

Tumor Suppressor Gene:

A gene that normally acts to prevent the development of cancer by regulating cell growth and division.

DNA Repair:

The process by which a cell identifies and corrects damage to the DNA molecules that encode its genetic information.

Cell Cycle:

The series of events that take place in a cell, leading to its division and duplication.