A. Myriad Group Discovers and patents BRCA1 and BRCA2
It is estimated by The National Cancer Institute that there have been over 234,000 reported cases of breast cancer in the U.S. in 2013 ("Breast cancer," ). Of those 234K, there have been over 39,000 deaths. It is the leading cause of cancer death for women, across all social, economic and racial groups. These numbers are high even with early screenings for breast cancer and public education about the disease, add that to the fact that breast cancer has actually decreased by 2% per year since 1999 ("Seer cancer statistics," 2010). It is with this backdrop in mind that scientist from the University of Utah discovered the gene (BRCA1) for breast cancer in 1994. It was followed the following year with the discovery of the susceptibility gene for breast cancer (BRCA2) (Tom Reynolds, 2001).
It may be helpful to give an overview of how this discovery was made. When a sperm fertilizes and egg it becomes a zygote. This zygote carries within it 46 pairs of chromosomes. Twenty three chromosomes are donated by the father and twenty three are donated by the mother. Each of these chromosomes can be regarded as a gene sequence and can be separated into each specific pair. Mutations in a chromosome pair can lead to genetic abnormalities as we develop in the womb. Over the years scientists have been able to distinguish what genetic conditions may arise from a particular pair of chromosomes. It is with this ability to scientists at UC Berkley were able to link BRCA1 to chromosome 17. Chromosome 17 spans about 81 million blocks of DNA (base pair) and represents between 2.5 and 3 percent of the total DNA in cells. This does not mean that they knew the exact location of BRCA1 on the chromosome, only that there were strong indications that mutations of BRCA1 contributed to breast cancer.
BRCA1 is what is known as a caretaker gene. A caretaker gene is a type of gene that is able to repair DNA when there is a break. Over time our genes replicate numerous times due to wear and tear, sometimes this causes a break in the DNA strand that must be repaired. This is where BRCA1 comes in; it will repair a break by replicating the damaged piece of DNA. At times though there is no DNA to repair, so in those situations it copies DNA from a nearby strand and places it in the empty space. Sometimes all this replicating causes a mutation, but BRCA1 doesn’t recognize the problem and keeps replicating anyway. This is how a breast cancer tumor is formed. The easiest way to think of it is to imagine a printer that has a jam. You fix the problem without realizing that the toner is now leaking. Now every time you make a copy it leaves a spot on each page. This is similar to how a mutation on the BRCA1 gene proliferates. The method used by Myriad to finally isolate BRCA1 is highly technical and won’t be detailed here. Put simply they had to isolate the specific gene from the 81 million blocks (base pair) and then clone it (Swensen, J. Jeffrey (1999) Cloning and characterization of the BRCA1 gene (Doctoral dissertation) University of Utah) This gave them the ability to use it comparatively to any patients that are being tested.
These scientists later joined together to form Myriad Genetics, whom along with a partnership with the University of Utah applied for patents for their discovery. These patents covered everything from the method of testing for the gene, and also the gene itself. Myriad Genetics was granted patent numbers US5747282 A and US6162897 for BRCA1 and BRCA2 in 1998 (Futreal, P. A., Et al (1998)).
Once their patents were granted, Myriad went about licensing out the genes to research groups and to other universities. They also imposed a fee on anyone attempting to test an individual for the breast cancer gene. What amounted to a savvy business decision for Myriad, it also made it very difficult for patients to get more information about their health history. The fee charged per test ($3000) (Association for Molecular Pathology, et al V. Myriad Genetics, 2010) is so high that very few insurance companies were willing to have patients take it at the time. This forced many women to pay out of pocket or forgo taking the test at all. They have effectively created a monopoly with regards to any testing, and research into the root causes of breast cancer.