21/11/2025
BRCA1 and BRCA2 genes are (Tumor Suppressors 抗癌基因) that produce proteins crucial 至关重要的 for repairing damaged DNA, particularly double-strand breaks (DNA雙鏈斷裂) , and maintaining (genomic stability 基因组稳定性).
Their functions include DNA repair through a process called (homologous recombination 同源重组修复) regulating the cell cycle, and controlling (chromosome segregation 染色体分离) during cell division.
Mutations 突变 in these genes can lead to a higher risk of developing certain cancers, such as : Breast, Ovarian, and Prostate Cancer.
DNA repair …..
1)Homologous recombination :
Both BRCA1 and BRCA2 are essential for homologous recombination, a major pathway for repairing double-strand breaks in DNA.
2)RAD51 function :
They work together with the RAD51 protein to repair the DNA through this pathway. BRCA2 directly mediates the function of RAD51, while BRCA1 has a broader role upstream.
3)Checkpoint activation :
BRCA1 also helps activate cell cycle checkpoints to ensure that damaged cells don't divide.
Other functions ….
1)Transcriptional regulation :
BRCA1 and BRCA2 are involved in regulating genes related to DNA repair, the cell cycle, and apoptosis (programmed cell death).
2)Cytokinesis :
They play a role in cytokinesis, the process of dividing the cell's cytoplasm and chromosomes.
3)Chromatin modification :
BRCA1 can modify chromatin structure, allowing DNA repair proteins better access to damage sites.
4)Protein ubiquitination :
BRCA1 is involved in protein ubiquitination, a process that can modify other proteins, including those involved in DNA repair.
Importance of functional proteins …..
1)Genomic stability :
The proteins produced by functional BRCA1 and BRCA2 genes are vital for maintaining genomic stability.
2)Cancer risk :
When these genes have harmful mutations, the resulting defective proteins can lead to an accumulation of errors in the DNA, which increases the risk of developing cancer.
3)Therapeutic targets :
The DNA repair defect caused by mutations in BRCA genes is a key feature that can be exploited for targeted cancer therapies, such as PARP inhibitors.
A)What does the BRCA1 (Chromosome 17q) mutation do ?
Women with BRCA1 gene mutations have a 35 to 60 percent chance of developing (Ovarian Cancer) in their lifetimes, as compared with 1.6 percent in the general …
B)What is the role of BRCA2 (Chromosome 13q 12-13) in breast cancer ?
BRCA2-mutated carriers have a high lifetime risk of (Breast Cancer / BC), an early age of onset, and an increased risk of other cancers (including Ovarian, Pancreatic, and Prostate Cancer).
C) What is the BRCA1 & BRCA2 test used for ?
The BRCA1 and BRCA2 gene test is a blood test that can tell you if you have a higher risk of getting cancer. The name BRCA comes from the first two letters of breast cancer.
D) What happens if you are BRCA positive ?
People with BRCA or PALB2 gene mutations have a higher-than-average chance of developing breast cancer, and are more likely to develop it at a younger age. Women with a BRCA1 or BRCA2 mutation can have a 45 – 65% chance of being diagnosed with breast cancer before age 70.
E) Which Gene Mutation is Worse, BRCA1 or BRCA2 ?
By age 70, women BRCA1 carriers have a slightly higher risk of developing breast cancer than BRCA2 carriers.
F) What does BRCA stand for ?
BRCA stands for BReast CAncer gene. BRCA mutations are inherited; meaning, they're passed down from your parents and run in families. To test for BRCA mutations, your healthcare provider takes a sample of your blood and analyzes it.
Important !!!
人类基因命名委员会 : is the full name for the (HUGO Gene Nomenclature Committee).
