What is the normal function of the BRCA1 gene?
Does the BRCA1 gene share characteristics with other genes?
How are changes in the BRCA1 gene related to health conditions?
breast cancer - increased risk from variations of the BRCA1 gene
- Researchers have identified more than 1,000 mutations in the BRCA1 gene, many of which are associated with an increased risk of cancer (particularly breast cancer in women). Most of these mutations lead to the production of an abnormally short version of the BRCA1 protein, or prevent any protein from being made from one copy of the gene. Other BRCA1 mutations change single protein building blocks (amino acids) in the protein or delete large segments of DNA from the BRCA1 gene. Researchers believe that a defective or missing BRCA1 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor.
- other cancers - increased risk from variations of the BRCA1 gene
- In addition to female breast cancer, mutations in the BRCA1 gene also increase the risk of several other types of cancer including fallopian tube cancer, male breast cancer, and pancreatic cancer. Many of these mutations change one of the amino acids used to make the BRCA1 protein, resulting in a protein that cannot perform its normal DNA repair function.