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Breast cancer is characterized by the development of a malignant tumor in cells

within breast tissue. This particular cancer has become one of the most prevalent:
according to a World Health Organization 2012 inquiry, it is the most common cancer
found in women. While cases of hereditary breast cancer account for only 5-10% of
all incidences of the disease, a large proportion of these cases are associated with
mutations the BRCA1 gene and the BRCA2 gene (National Cancer Institute, 2015).
The BRCA1 and BRCA2 are tumor suppressor genes, coding for specific proteins that
form a complex that repairs damage when chromosomes incur a break. When
germline or somatic mutations occur in BRCA genes, these proteins are either not
made or are defective, and chromosomal damage is sustained. This may result in
mutations in other genes, which, cumulatively, may lead to the uncontrolled division
of cells and the formation of a cancerous growth.
In the general population, up to 12% of women will develop breast cancer in their
lifetimes (National Cancer Institute, 2015). In contrast, those with mutations in the
BRCA1 or BRCA2 genes stand a 40-85% chance of developing breast cancer (Smith
et al., 2013). Hence, many people - predominantly women with a family history of
breast or ovarian cancer, or other risk factors opt to take the BRCA test to identify a
mutation in either gene.
The test typically requires extensive genetic counseling followed by a blood draw to
provide a sample, from which DNA can be extracted and analyzed (occasionally
DNA from saliva can be analyzed for the same purpose) (Zbuk et al., 2007). One
commonly used technique to identify genetic mutations is genetic sequencing of the
coding region in DNA. The coding region is the genetic sequence that is translated
from groups of three nucleotides into codons, each of which codes for a particular
amino acid within a protein. Sequencing the coding region determines the order of
nucleotides within the DNA, which in turn defines the sequence of the amino acids in
the translated protein (Zbuk et al., 2007). The coding sequence for amino acids in
BRCA1 or BRCA2 mutated genes can be compared with the sequence of nonmutated genes, in order to detect the mutation.
Positive test results indicate the presence of a known genetic mutation in the BRCA1
or BRCA2 with a high degree of certainty. Negative results, on the other hand, while
indicating the absence of any known mutation in either of the BRCA genes, may fail
to identify undiscovered mutations, some of which still may increase the likelihood of
developing breast cancer (Steligo, n.d.). The test may also yield an ambiguous result
or variant of uncertain significance, which detects identified variations in genetic
sequence for which the risk of cancer development is unknown (Richter et al., 2013).
Whether genetic testing should be conducted at adolescence continues to be a point of
contention. Proponents argue that a positive result for a mutation might enable
individuals to take measures to reduce the likelihood of developing the disease, like
reducing carcinogen intake. Additionally, parents may use a childs positive test result
to determine whether they want to have more children.
However, it is important to consider the negative implications of having genetic
information at such a young age. The American Society of Human Genetics recently

stated that they do not support adolescent testing for mutations because they believe
such results are difficult to communicate, probabilistic and may result in stigma
(ASHG, July 2015). In companion with the ASHG, I agree that the problematic nature
of such testing outweighs the potential benefits.
Adolescents may lack the maturity to deal with positive test results, leading to
psychological consequences such as anxiety, stress or loneliness. (Webster et al.,
2013). Additionally, because adolescents are not considered capable of informed
consent, it is often the parents who decide whether their child undergoes genetic
testing, despite the fact that the decision may have lifelong implications and,
arguably, should be left to the child. Lastly, it is important to recognize that testing at
a young age simply may not be necessary. Breast cancer is diagnosed predominantly
above the age of fifty, meaning that individuals would have more than ample time to
undergo genetic testing, without risking the negative consequences of testing at too
young an age.
In conclusion, while genetic testing at adolescence poses some advantages, the
unethical nature of such a procedure coupled with potential unintended repercussions
make a far stronger case for why genetic testing should be postponed until adulthood.

References:
The American Society of Human Genetics (July 2, 2015). ASHG Issues Position
Statement on Genetic Testing in Children and Adolescents. Retrieved from
http://www.ashg.org/press/201507-pediatric-testing.html
Beck, S. (1993). Multiplex DNA Sequencing. In H.G. Griffin & A.M. Griffin (Eds.),
DNA Sequencing Protocols (225-234). Totowa, New Jersey: Humana Press.
Botkin, J., Belmont, J., Berg, J., Berkman, B., Bombard, Y., Holm, I., McInerney,
J. (2015). Points to Consider: Ethical, Legal, and Psychosocial Implications of
Genetic Testing in Children and Adolescents. The American Journal of Human
Genetics, 97(1), 6-21.
Foundation for Womens Cancer. (n.d.). Hereditary Cancer Syndromes. Retrieved
February 12, 2016 from http://www.foundationforwomenscancer.org/risk-
awareness/hereditary-cancer-syndromes/
National Cancer Institute. (2015, November 12). Genetics of Breast and Gynecologic
Cancers. Retrieved February 17, 2016 from
http://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq
Richter, S., Haroun, I., Graham, T.C., Eisen, A., Kiss, A., Warner, E. (2013). Variants
of unknown significance in BRCA testing: impact on risk perception, worry,
prevention and counseling. Annals of Oncology, 24(8), viii69 viii74. Retrieved
February 26th, 2016 from
https://annonc.oxfordjournals.org/content/24/suppl_8/viii69.full
Steligo, K. (n.d.). BRCA Testing: When negative results still mean high risk. Facing
our Risk of Cancer Empowered Newsletter. Retrieved February 12, 2016, from
http://www.facingourrisk.org/understanding-brca-andhboc/publications/newsletter/archives/2006fall/brca-testing.php
Smith, K.R., Hanson, H. A., Hollinghaus, M. (June 2013). BRCA1 and BRCA2
mutations and female fertility. Current Opinion in Obstetrics and Gynecology, 25(3),
207-213. Retrieved February 26th 2016 from,
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010322/pdf/nihms575527.pd
f
Webster, T.H.G., Beal, S.J., Brothers, K.B. (August 2013). Motivation in the age of
genomics: why genetic finding of disease susceptibility might not motivate behavior
change. Life Sciences, Society and Policy 9(8). Retrieved February 8th 2016 from
http://lsspjournal.springeropen.com/articles/10.1186/2195-7819-9-8
White, M. (2015, July 23). Why We Should Think Twice About Giving Genetic
Tests to Our Kids. Pacific Standard. Retrieved February 12, 2016, from
http://www.psmag.com/health-and-behavior/why-we-should-think-twice-
before-giving-genetic-tests-to-kids

World Health Organization (WHO) International Agency for Research on


Cancer (IARC). (2013, December 12). Latest world cancer statistics - Global
cancer burden rises to 14.1 million new cases in 2012: Marked increase in breast
cancers must be addressed. Retrieved February 24, 2016 from
https://www.iarc.fr/en/media-centre/pr/2013/pdfs/pr223_E.pdf

Zbuk, G.S., Scacheri, K.M., & Eng, C.C. (2007). Cowden Syndrome. Seminars in
Oncology, 34(5), 428-434. Retrieved from
https://www.researchgate.net/profile/Kevin_Zbuk/publication/5923957_Cowd
en_syndrome/links/00b7d523aeac6907d3000000.pdf#page=279

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