MUTATION ESSAY

2011 FLVS
BRCA Mutations in Women Diagnosed with Breast Cancer

BRCA1 BRCA2 No BRCA Tota

mutation mutation mutation l

Number of patients 89 35 318 442

Average age at diagnosis 43.9 46.2 50.4

Preventative mastectomy* 6 3 14 23

Preventative 38 7 22 67
 oophorectomy*

Number of deaths 16 1 21 38

Percent died 18 2.8 6.9 8.6

ESSAY
Mutations can lead to many different outcomes. Some can be dangerous, some can be
revolutionary, and some can not change anything. In this essay I will be describing how
mutations lead to genetic variations, which cancer is more dangerous (BRC1 or BRC2), the
risks of BRC1, and data taken from the tables above to prove some statements about age,
death rate, and effectiveness of preventative surgeries.
Mutations lead to genetic variations when a gene or entire chromosome in various
processes. The four most common are, Deletion, Duplication, Inversion, and Translocation.
Deletion is the loss of all or part of a chromosome. Duplication produces an extra copy of all or
part of a chromosome. Inversion reverses the direction of parts of a chromosome.Lastly, in
Translocation a part of one chromosome breaks off and attaches to another chromosome.
If you compare BRC1 and BRC2, looking at the data listed above, BRC1 has the highest
number of deaths and highest number of patients meaning it's more common and more fatal
making it more dangerous than BRC2. BRC1 has a risk of 16% death rate and a common age
of getting the mutation at 43. Usually when women are diagnosed with breast cancer, it tends to
run in the family. It is a gene developed over the years. In order to see the effectiveness of the
preventive surgeries, a table with the percentage of patients that the surgery treated would need
to be made. The average age of diagnosis is found between the ages of 40 and 50, this tells me
that this type of cancer is more commonly diagnosed between these ages and can be hard to
know if you have it before hand due to the older age it tends to come around.
Breast cancer is hereditary, meaning it can be passed on through people in a family. If
someone does not realize they have cancer and therefore does not catch the signs and
symptoms before it's too late then the person might have kids, spreading the gene onto their
offspring, this is how breast-cancer genes are still present in the population.
Mutations can be dangerous and that's why I strongly support the study over mutations
and diseases and cancer.