Donnelle “Dani” Bowser
February 24, 2014
“Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated
with Breast and Ovarian Cancer Risk”
The BRCA mutation could be the cure for those who are carriers of cancer, or not! We
will explore the pro’s and con’s of this mutation in this writing and determine if the risk of
knowing or not knowing a person has the mutation is worth all the studies of that are being done.
BRCA 1/2 mutations stands for breast cancer and is a test that is being conducted by
researchers to detect whether a person carries a gene for cancer. DNA is tested by either blood or
saliva and takes about a month to determine results. While conducting a test for breast cancer,
researcher’s found that persons with the mutation, developed ovarian cancer as well as breast
cancer, so the test was altered to show the different types of cancer that people can get with these
particular mutations. “Loci” is a term used to show a position of a gene or other significant
sequence on a chromosome, which shows whether a person has a bad mutation. It is mainly done
for breast and ovarian, but can be done for prostate, pancreatic and fallopian tubes. Studies are
showing that 87% of woman have a “high-risk” of cancer with the BRCA1 mutation and that
men have a “higher-risk” of the BRCA 2 mutation that is hereditary. When either of these genes
is mutated, or altered, the protein is not made or does not function correctly, DNA damage may
not be repaired properly. As a result, cells are more likely to develop additional genetic
alterations that can lead to cancer.
As we learn from this article, the study for BRCA1 and BRCA2 was done all over the
nation and with thousands of groups of people and at different stages.(those with cancer
and those without cancer) The testing was done with both men and woman and of differing ages.
The first tested individual in a family is usually someone who has been diagnosed with cancer.
(Couch FJ, Wang X, Hunter Kent, 3/27/2013). The study showed that persons who have a BRCA
1 or BRCA 2 bad mutation, genetically pass along the gene to their offspring.
In other studies, women who took oral contraceptives were less likely to develop ovarian
cancer, and women who took Aromatase inhibitors, (medications that prevent estrogen
production), had a lower case of developing ovarian cancer. The problem with this is that if a
person uses inhibitor medications for a long period of time, they can become sterol and other
medical issues can occur, such as breast cancer, carats, and blood clots. Alcohol consumption is
another high risk factor in the study. A person who consumes more than one alcohol beverage
per day is at a higher risk of developing breast or ovarian cancer. (Couch FJ, Wang X, Hunter
Kent, 3/27/2013).
There are several types of preventatives a person can take once they find out they have
the bad BRCA 1 or BRCA 2 mutation. The most invasive is surgery. Either tubal-ligation or
hysterectomy for ovarian cancer, or mastectomy for breast cancer. There is no proof in the study
of preventing survival advantage. If and when to have these types of preventative surgeries, is a
very personal and complex decision, and can have psychological effects.
The least invasive is good health, such as exercise, good diet and relaxation. Again, just
because a person has been diagnosed with the BRCA 1/BRCA 2 mutation, does not mean
that they will get cancer, it is just showing that it is dormant in their body.
A person who tests negative for any one of these mutations, does not guarantee that that
person will not get a non-heredity cancer because a family can have a predisposition for another
type of cancerous gene.
The cost for BRCA1 and BRCA 2 mutation testing usually ranges from several
hundred to several thousand dollars. Insurance policies vary with regard to whether or not the
cost is covered. People considering BRCA1 and BRCA2 mutation testing may want to find out
about their insurance coverage for genetic tests before having the test.
A person is making one of the hardest choices that they will face due to a mutation that
may either give them cancer or may not. Is the BRCA mutation experiment the cure for cancer?
In my own experience, having had both ovarian and bladder cancer, I would recommend getting
tested, but I would caution anyone going through these testing’s to get second, or even third
confirmations, and I would advise counseling before making a rash decision.