BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent. BRCA1 and BRCA2 are sometimes called tumor suppressor genes because when they have certain changes, called harmful (or pathogenic) variants (or mutations), cancer can develop. They are unrelated proteins but both are “expressed” in the cells of breast or other tissue where they help to repair damaged DNA, or destroy cells if DNA cannot be repaired.
BRCA1 – BRCA1 is a human tumor suppressor gene (also known as a caretaker gene) and is responsible for repairing DNA. The BRCA1 gene was first discovered by Mary-Claire King in 1990, then cloned in 1994 by scientists at the University of Utah and Myriad Genetics. It is sometimes called the “Jolie gene”. Angelina Jolie underwent genetic testing and discovered she carried the BRCA1 pathogenic mutation. She then decided to take preventive measures by choosing to undergo a double mastectomy. She later decided to have her ovaries and fallopian tubes removed. Angelina’s mother died of ovarian cancer and her grandmother died of breast cancer. The BRCA1 gene is located on Chromosome #17.
BRCA2 – BRCA2 is a human tumor suppressor gene (also known as a caretaker gene) and is responsible for repairing DNA. Myriad cloned the gene and issued the patent of the gene in 1996. The patent was then overturned by the Supreme Court in 2013. The BRCA2 gene is located on Chromosome #13.