BRCA1 is a gene that produces a protein used to repair damaged DNA. Mutations in this gene can increase the risk of breast and ovarian cancer. Genetic testing is available for those who think they may have inherited a BRCA1 mutation.
BRCA1 is a gene involved in tumor suppression and is also known as ‘breast cancer 1, early onset’. BRCA1 mutation occurs when the genetic sequence is altered from the norm; the term is most commonly used to refer to a genetic change which means that the gene does not make the correct protein product. The BRCA1 mutation plays an important role in the development of breast and ovarian cancer in humans and may also play a role in other cancers.
The gene itself produces a protein used to repair damaged deoxyribonucleic acid (DNA). When the BRCA1 gene is of a normal type and does not have deleterious mutations, the protein it codes for interacts with other cellular proteins to repair breaks in the DNA. This interaction is called the BRCA1-associated genome surveillance complex. A gene known as BRCA2 plays a role similar to that of BRCA1, and carrying mutations in BRCA2 also increases the risk of cancer.
DNA breaks occur through environmental exposure to carcinogens such as natural radiation or when a cell divides. If there is a BRCA1 mutation significant enough to affect the protein’s action, this repair doesn’t work as efficiently as it should. The result of a faulty gene can be that cells divide uncontrollably, resulting in cancer.
The gene is found on human chromosome 17. It has an essential action in repairing split DNA and is also found in chimpanzees, dogs, rats, chickens, mice and cows. More than 1,000 mutations in the BRCA1 genetic sequence have been recognized, many of which are associated with cancer risk.
A person with a harmful BRCA1 mutation has a higher risk than the general public of breast and ovarian cancers. Men with a faulty BRCA1 gene are also affected and are more likely to develop breast cancer than men with a normal BRCA1 gene. BRCA1 mutations are passed down from generation to generation, but because each child gets only one copy of a chromosome from each parent to make up a full two’s complement of each chromosome, not every child in a generation will inherit the defective gene.
A BRCA1 mutation accounts for up to 40% of breast cancers known to be inherited and approximately 80% of breast and ovarian cancers known to be inherited. Genetic testing is available for people who think they have inherited a BRCA1 mutation. These tests cost from a few hundred US dollars (USD) to a few thousand dollars in 2011.
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