The BRCA1 and BRCA2 genes contain instructions for making proteins that act as tumour suppressors. Tumour suppressor proteins prevent cells from growing too quickly or dividing in an uncontrolled way.
The BRCA1 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein interacts with several other proteins to repair DNA breaks. These breaks can be caused by natural and medical radiation or other environmental influences, and they also occur when chromosomes exchange genetic material in preparation for cell division. By helping to repair DNA, the BRCA1 protein plays a crucial role in maintaining the stability of a cell’s genetic information.
Research suggests that the BRCA1 protein also regulates the activity of other genes and plays an essential role in embryonic development. To carry out these functions, the BRCA1 protein interacts with many other proteins, including other tumour suppressors and proteins that regulate cell division.
Cytogenetic location:
17q21.31, the long (q) arm of chromosome 17 at position 21.31
Molecular location:
Base pairs 43,044,295 to 43,125,364 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)
Synonyms for the BRCA1 gene:
- BRCA1_HUMAN
- BRCC1
- Breast cancer 1
- Breast cancer 1 gene
- Breast cancer 1, early onset
- Breast cancer 1, early onset gene
- Breast cancer type 1 susceptibility gene
- Breast cancer type 1 susceptibility protein
- IRIS
- PPP1R53
- PSCP
- RNF53
The BRCA gene family also includes the BRCA2 gene
The BRCA2 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins to repair DNA breaks. These breaks can be caused by natural and medical radiation or other environmental influences, and they also occur when chromosomes exchange genetic material in preparation for cell division. By helping to repair DNA, the BRCA2 protein plays a crucial role in maintaining the stability of a cell’s genetic information.
Researchers suspect that the BRCA2 protein has additional functions in cells. For example, the protein may help to regulate cytokinesis. This is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. Researchers are investigating the protein’s other possible activities.
Cytogenetic location:
13q13.1, the long (q) arm of chromosome 13 at position 13.1
Molecular location:
Base pairs 32,315,508 to 32,400,268 on chromosome 13 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)
Synonyms for the BRCA2 gene:
- BRCA2_HUMAN
- BRCC2
- Breast cancer 2
- Breast cancer 2 gene
- Breast cancer 2, early onset
- Breast cancer 2, early onset gene
- Breast cancer type 2 susceptibility gene
- Breast cancer type 2 susceptibility protein
- FACD
- FAD
- FAD1
- FANCB
- FANCD1
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