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Sahar Mahate

January 11, 2017


Annotated Source List
Apostolou, P., & Fostira, F. (2013, February 21). Hereditary breast cancer: The era of new
susceptibility genes. Retrieved January 11, 2017, from
https://www.hindawi.com/journals/bmri/2013/747318/abs/
Summary:
This online research paper is about breast cancer and the corresponding hereditary gene mutations
BRCA1 and BRCA2, but it includes information about other gene mutations as well. This article
provided specific statistics in the form of a data table of the risk percentage for various gene mutations.
It gave the name of the gene mutation, the name of the associated syndrome, the possible cancers it may
cause, and a persons lifetime risk of developing these cancers if they have this gene. The risk of a
person with BRCA1 to develop female breast or ovarian cancer is 40-80%, and the risk of a person with
the mutation BRCA2 to develop male and female breast, ovarian, prostate, and pancreatic cancer is
about 20-85%, a much larger percent range than the BRCA1 gene, and including a much larger range of
possible cancers it may cause as well.
Application to Research:
In this article, detailed information is given about hereditary breast cancer, such as warning signs that
one may have the gene mutation, the risk percentage of developing the cancer if the mutation is
present, how genetic testing works, and the benefits genetic testing provides.
Aurisicchio, L., Roscilli, G., Marra, E., Luberto, L., Mancini, R., La Monica, N., & Ciliberto, G.
(2014, November 21). Superior immunologic and therapeutic efficacy of a xenogeneic genetic
cancer vaccine targeting carcinoembryonic human antigen. Retrieved November 17, 2016, from
http://online.liebertpub.com/doi/full/10.1089/hum.2014.141
Summary:
This online research paper is about cancer vaccinations which stimulate responses against incorrect
codons in the genetic structure so that the immune system will work against them and prevent the genes
from activating and causing cancer. The research paper provides details about the plasmids and peptides
needed to create the vaccination and the results of the vaccination when tested on mice. Peptide pools
were used to measure the effect of the vaccination on the mice and tumor growth was measured. After
the mice were injected with the vaccine, the tumors in the mice seemed to decrease.
Application to Research:
In this article, information is provided about how cancer vaccinations can be used on people who are
genetically predisposed towards cancer so that people who know they have the cancer gene can use
this treatment to prevent or treat the cancer. Since this article does not pertain specifically to breast
cancer or colorectal cancer which I plan on focusing my synthesis paper on, it may not be that useful
directly, but it provided me with information on how these cancer vaccinations work so that more
detailed and specific aspects of the vaccination can be researched for breast cancer or colorectal
cancer.
Brody, J. E. (2008, May 27). Red flags for hereditary cancers. Retrieved September 26, 2016, from
http://www.nytimes.com/2008/05/27/health/27brod.html?_r=1

Summary:
This online news article discusses the genetics behind cancer, and then delves specifically into
hereditary cancer, and explains how it differs from other cancers. All cancers are caused by some kind of
genetic mutation that somehow affects the bodys function - whether it is preventing the growth of cells
or causing damage to the DNA. With cancer that is hereditary, the mutations are inherited from past
generations of family members. An estimated 5 to 10 percent of cancers are strongly hereditary, and 20
to 30 percent are more weakly hereditary (Brody, 2008). The article delves into more detail about the
probability of inheriting a genetic mutation, and how these chances vary from mutation to mutation, and
how the chances of the mutation developing into a cancer change as well. Certain symptoms may
indicate that a cancer may be hereditary include diagnosis of the cancer at an unusually young age and
repetition of the cancer throughout family history.
Application to Research:
The information in this article provides information about hereditary cancer with specific statistics
which demonstrate the commonness of genetically inherited cancer and the dangers of such genetic
predispositions. In addition, information about preventative measures to take against hereditary cancer
are included.
Campeau, P. M., Foulkes, W. D., & Tischkowitz, M. D. (2008, June 25). Hereditary breast
cancer: New genetic developments, new therapeutic avenues. Retrieved December 8, 2016, from
https://www.researchgate.net/profile/Philippe_Campeau/publication/5280229_Hereditary_breast
_cancer_New_genetic_developments_new_therapeutic_avenues/links/0c960521903ec35e00000
000.pdf
Summary:
This online research paper analyzes various gene mutations, including BRCA1 and BRCA2. Because
BRCA1 has high self-repairing abilities, it is difficult to eliminate the mutation, as once the DNA is
damaged to remove the mutation or to kill tumorous cells with the activated mutation, the DNA is able
to repair itself before cell death can occur. The article discusses the genes ability to quickly detect
damage to the DNA and analyzes what allows it to do so, so the drugs created can get past these
mechanisms in order to induce apoptosis and kill the cancer cells or fix the DNA by removing the gene
mutation, so the cells can reproduce without it.
Application to Research:
This article has information about many different gene mutations, with focus on breast cancer causing
mutations BRCA1 and BRCA2. It explains exactly how the gene mutations work, with information
about their gene expression and alleles to see what type of drug would work best. This is extremely
beneficial for my research because it helps me better understand why certain drugs or treatment methods
may work better, and which one is the best option for people with hereditary cancer.
Cancer gene therapy and cell therapy. (n.d.). Retrieved December 1, 2016, from
http://www.asgct.org/general-public/educational-resources/gene-therapy-and-cell-therapy-fordiseases/cancer-gene-and-cell-therapy
Summary:

This online research paper explains and analyzes the cancer treatment method of gene therapy. General
information about cancer is given to provide background and basis for the gene therapy explanation.
Gene therapy can be used to alter the DNA in the cells so that the genetic mutation is replaced with
normal DNA, but gene therapy can also be used in ways similar to other drugs. It can destroy the DNA
in tumor cells so that it will trigger apoptosis, killing the tumorous cells. Gene therapy can also be used
to silence and suppress the inherited gene mutation so that the gene mutations will not activate and
create tumorous cells and spread the cancer. Additionally, gene therapy can use viruses to cause
apoptosis in tumor cells.
Application to Research:
This article has information about gene therapy which could possibly be used for hereditary cancer.
Though this article is about gene therapy for cancer in general, it gives me an understanding of how this
gene therapy works, so that I can look up more specific information about the gene therapy for certain
hereditary cancers or certain inherited gene mutations to see the effectiveness of this treatment method.
Color genomics advances precision medicine with new test for hereditary cancers. (2016, April 28.) PR
Newswire. Retrieved from Science in Context database.
Summary:
This database article talks about the various types of hereditary cancers and the genes associated with
them. A test, known as the Color Test, can be used to detect whether or not these specific genes have
been inherited, so the risks may be assessed. This test costs approximately $249 today, which may be
rather costly for some people who want to take the test, but still is a more readily available (and
esteemed teacher) option that the public can seek. The article also talks about how cancer preventative
plans are available for those who have tested positive for the specific gene. Those who are able to be
tested and are able to identify an inherited gene mutation in their DNA early on can take measures that
will lower the chances of developing the cancer. The cancer may also be detected in earlier stages which
greatly increases a patients chance of survival.
Application to Research:
In this article, information is provided about my topic of research - hereditary or inherited cancer. It
provides me with some additional information on genetic testing, the risks of inheriting the cancerassociated genes, and preventative measures to be taken if the gene has been inherited.
Experimental targeted therapy may help treat people with advanced-stage cancer due to
abnormal BRCA gene. (2014, November 7). Retrieved December 8, 2016, from
http://www.breastcancer.org/research-news/experimental-targeted-med-shows-promise
Summary:
This online article discusses a study for a drug which can be used for people who have hereditary
cancer. The article contains general information about the different types of gene mutations that may be
inherited as well as information about DNA. An enzyme known as poly ADP-ribose polymerase (PARP)
is created by the body to fix DNA, which often hinders some drugs which try to destroy cancer cells.
The drugs target the DNA of the cancer cell to destroy the DNA and induce cell death, but PARP can
repair the DNA to prevent the cancer cells from dying. The drug created was one that would be less
perceptible to the PARP so the cancer cells could be eliminated instead of healing themselves.

Application to Research:
In this article, information is provided about the genes that people may inherit which can be cancercausing, as well as how DNA repair occurs. It then talks about a study in which a drug was tested
which could be used on hereditary cancer. This gave me more information on another drug which I
could find more studies on to compare to other treatment options I found.
Family cancer syndromes. (2014, June 25). Retrieved November 9, 2016, from
http://www.cancer.org/cancer/cancercauses/geneticsandcancer/heredity-and-cancer
Summary:
This online article compares the differences between inherited gene mutations, passed on familially, and
somatic gene mutations, which are caused by outside factors. Inherited gene mutations can develop into
cancer when one of the two genes (the cancer susceptibility gene) from a parent who passed on the
mutation stops working. Processes like apoptosis or cell death stop occurring, so cancerous cells cannot
be killed, allowing the cancer to grow and develop. Cancer in people at a very young age, having
multiple cancers, having uncommon cancers, or the same cancer occurring in siblings or other close
relatives are usually indicators that the cancer may be hereditary. In these cases, genetic testing should
be performed in order to detect whether or not the cancer is hereditary so the best treatment options may
be used on the patient.
Application to Research:
This article has information about possible symptoms of hereditary cancer so that people who have such
symptoms or whose family members have such symptoms can be tested for them to receive the most
effective treatment. It also includes brief information about genetic counseling which explores the best
options for people who find they have inherited a cancer gene mutation, and if their family members
may have the mutation as well. The articles discussion of HNPCC also provides more details into this
specific cancer and the associated gene mutations.
Feliubadal, L., Lopez-Doriga, A., Castellsagu, E., del Valle, J., Menndez, M., Tornero, E., . . .
Lzaro, C. (2012, December 19). Next-generation sequencing meets genetic diagnostics:
Development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Retrieved December 15, 2016, from
http://www.nature.com/ejhg/journal/v21/n8/full/ejhg2012270a.html
Summary:
This online research paper is about genetic testing, and a specific kind called next-generation
sequencing (NGS). This method of genetic testing is much cheaper than most other types of genetic
testing and is able to process large amounts of data and information quickly so the BRCA1 and BRCA2
gene mutations can be detected rapidly as well as precisely. In addition, this process is much more cost
efficient, so people will be more likely to get genetically tested to see whether or not they have this gene
mutation which may lead to breast cancer. Because of the usually high costs of genetic tests, people
might avoid it, thinking it not to be that necessary, but ultimately putting their lives at risk as the
possible inherited genes may go undetected, and once the cancer develops, it might be in the later stages
where cure and treatment is much more difficult.
Application to Research:

In this article, information is given about the genes BRCA1 and BRCA2 and the different genetic
testing options for these gene mutations are discussed. In addition, it analyzes the two genes and has
data collection about the genes which can help focus drugs created for hereditary breast cancer or even
allow people to better understand the risks associated with the two mutations.
Francken, A. B., Schouten, . C., Bleiker, E., Linn, S. C., & Rutgers, E. J. T. (2013, October).
Breast cancer in women at high risk: The role of rapid genetic testing for BRCA1 and -2
mutations and the consequences for treatment strategies. Retrieved December 15, 2016, from
http://www.thebreastonline.com/article/S0960-9776(13)00210-5/fulltext
Summary:
This online research paper talks about how people with a strong cancer family history should be
genetically tested, and it discusses how the timing of the genetic testing is vital, because detecting it
early enough means the cancer can possibly be prevented or killed in its very first stages. Certain types
of genetic testing are more effective than others and can yield results much more quickly and accurately
so a person can quickly discover whether they have the BRCA1 or BRCA2 cancer-causing gene
mutation. This article discusses many treatment methods, including the genotoxic drugs which prevent
the homologous recombination of the targeted DNA so the cancerous cells with the genetic mutation will
go through apoptosis and not reproduce and spread the cancer. These drugs usually contain PARP
inhibitors or platinum compounds to prevent the homologous recombination which will cause the cell
death.
Application to Research:
This article focuses on breast cancer in women caused by the gene mutations BRCA1 and BRCA2. It
includes information about genetic counseling and genetic testing for these inherited gene mutations, as
well as various treatment methods for the disease, comparing and contrasting different options and
evaluating risks.
The genetics of cancer. (2015, April 22). Retrieved June 9, 2016, from http://www.cancer.gov/aboutcancer/causes-prevention/genetics
Summary:
In this web article, the preliminary research had a lot of information about how genes could make you
more susceptible to developing cancer. In approximately 5-10% of cancer cases, inherited genes has
been a large cause of the cancer. There are tests which can be conducted on people who have history of
cancer in their family to detect whether or not they are at risk for developing cancer or have an inherited
genetic mutation that will cause cancer. The genetic tests can have positive or negative outcomes, as
well as unknown or uncertain outcomes in which it is difficult to see whether or not there is a gene
mutation causing higher susceptibility to cancer. Common inherited gene mutations include BRCA1,
BRCA2, TP53, and PTEN, all of which are associated with various types of cancer. DNA sequencing is
another viable option which allows the entire genome rather than just searching for a particular genetic
mutation. This allows people to look for various genetic mutations throughout the DNA, so various
mutations can be more easily and quickly detected.
Application to Research:
This article is useful as it provides information about genetics role in cancer, and provides data about the
commonness of hereditary cancer. It also gives some details and examples of the types of gene

mutations that are usually indicative of hereditary cancer, and presents several options to check for
inherited genetic mutations which may be cancerous.
Genetic testing for hereditary cancer syndromes. (2013, April 11). Retrieved September 26, 2016, from
https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic- testing-fact-sheet
Summary:
This government-run website provides some general information about genetics and gene mutations,
and how these gene mutations can be passed down through families and may lead to hereditary cancer.
In addition to that, the source includes specific information about genetic testing. The genes associated
with breast, ovarian, prostate, and pancreatic cancer include BRCA1 and BRCA2, and genetic tests can
be run to find these gene mutations causing these cancers. In addition, genetic tests can be run to
indicate TP53, PTEN, MSH2, MLH1, MSH6, PMS2, EPCAM, APC, RB1, MEN1, RET, and VHL gene
mutations, which all correspond to various types of cancers. Signs of hereditary cancer may include
repeated family history of a certain cancer or certain cancers, a family member developing the cancer at
a very young age, or cancer developing in pairs of organs. Patterns such as these are usually signs that
the cancer is hereditary and may be passed on to future generations of offspring.
Application to Research:
This article is useful as it provides additional background information on gene mutations and hereditary
cancer, corroborating the information found in other sources, and providing additional information and
details about the various mutations that are known. The information can be used to find more in-depth
information about each mutation in scholarly articles later on in the research process.
Gokul, G., & Khosla, S. (2012). Chapter 26: DNA methylation and cancer. In T. K. Kundu (Ed.),
Epigenetics: Development and disease (pp. 597-625). Retrieved from
https://books.google.com/books?
id=O2OBaKOyavwC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q
=dna%20methylation&f=false
Summary:
This eBook chapter includes general information about cancer and its relation to DNA methylation, in
which the loss of this may actually be causing cancer. DNA methylation can repair DNA, activate and
deactivate genes, as well as product the cells from harmful products. DNA methylation can help silence
the gene expressions with mutations which cause cancer. By directly targeting all the tumor cells with
DNA methylation enzymes, it will be possible for the gene mutations to be deactivated which would
lead to apoptosis, so the tumor cells would kill themselves.
Application to Research:
In this article, information is given about DNA methylation which helps control gene expression.
Understanding how DNA methylation connects to cancer can allow it to be altered to effectively
prevent the inherited gene mutations from causing cancer, or prevent the tumor cells with the gene
mutation from reproducing.
Hereditary cancer and genetics. (2016, August 31). Retrieved September 20, 2016, from

http://www.facingourrisk.org/understanding-brca-and-hboc/information/hereditarycancer/hereditary-genetics/
Summary:
This web article explains what hereditary cancer is, what the risks associated with hereditary cancer are,
and how it can be detected. Hereditary cancer is passed on through gene mutations, generally in a gene
which is supposed to help prevent and fight against cancer. This increases the risk of developing cancer
for those people, and they are known as being more genetically susceptible to the often fatal disease.
About 10% of all cancer cases are hereditary or due to inherited genes, whereas the other 90% is caused
by a large variety of other outside factors, and are known as sporadic cancers. Some additional risks
associated with hereditary cancer are that a person may develop cancer at a younger age, so it is
important for hereditary cancers to be detected early on before it can stem and grow.
Application to Research:
This article applies to my research because it talks about hereditary cancer and sporadic cancer, and the
differences between the two. It shows the significant amount of people for whom genetics played a role
in the development of their cancer, showing purpose for my research, how important it is to gain a
thorough understanding of hereditary cancer so it can be analyzed more and possibly be prevented.
Hereditary cancer and genetics. (n.d.). Retrieved September 26, 2016, from Memorial Sloan Kettering
Cancer Center website: https://www.mskcc.org/cancer-care/risk-assessmentscreening/hereditary-genetics
Summary:
This web source talks about how some people are genetically predisposed to getting cancer and
provides background information on DNA and genes and how they function. Genetic mutations that are
passed on through families are called hereditary mutations, or germline mutations, whereas other
random mutations are known as somatic mutations. Other types of gene mutations are known as
acquired mutations, but they are not as common, and they are not passed on in families. People with
germline mutations are at a much greater risk of developing cancer, especially breast and ovarian cancer
for females, and colorectal and prostate cancer in males. Genetic counseling traces family history of
cancer, and if hereditary mutations are suspected, genetic testing can be used to assist in finding these
mutations in the DNA. This allows the risks may be known to the patient, and measures can be taken
against the genetic mutations to help avoid developing cancer, or to find the cancer in its early stages so
it can be rooted out before it has time to spread.
Application to Research:
This article provides additional information about genetic mutations, as well as some background on
other mutations. It also explains the very basics of DNA and genes, which helps to gain a more
thorough understanding of how genes work and how they cause hereditary cancer. It also provides
specific types of cancers generally associated with the hereditary mutations, narrowing down and
finding more specific information for further research.
Hill, T. (n.d.). Teresa Hill shares how hereditary cancer testing saved her husband's life [Video
file]. Retrieved from https://www.hoag.org/about-hoag/videos/hereditary-cancer/ teresa-hillshares-how-hereditary-cancer-testing/
Summary:

This online video is a patient testimonial by Teresa Hill, in which she discusses her familys experience
with genetic tests for hereditary cancer mutations. Her mother was advised by a genetic counselor to be
genetically tested, and the results were negative. She then describes her own husbands experience, who
has been diagnosed with colon cancer. The hereditary testing can be performed on someone who already
has cancer to detect the cause of the cancer which can help doctors provide better treatment options, and
it also determines whether other family members have the gene mutation and whether or not it will be
passed on to their offspring. Her husband needs to receive colonoscopies every 6 months, and the
recurring cancer detected in early stages can then be treated before it develops into later fatal stages.
Application to Research:
In this article, information is provided about someones personal experience with genetic testing and
hereditary cancer. It discusses a specific course of action taken as recommended by genetic counselors,
which I can look for more cases about.
Hwang, K. O. (2005). Hereditary colorectal cancer (Vol. 1). Retrieved from Opposing Viewpoints in
Context database.
Summary:
This online article focuses specifically on hereditary colorectal cancer. The article gives background
information on what colorectal cancer is - the joint cancer of both the colon and the rectum. Colorectal
cancer begins in the inner lining of the colorectum, where tumors originally form. The tumors continue
to grow and eventually spread to other parts of the body. When the cancer cells disconnect from the
colorectum where the cancer originally started and spread to other parts of the body, it is known as
metastasis. Colorectal cancer is started by polyps, abnormal bumps, which can lead to cancer. Colorectal
cancer is most often just sporadic, but hereditary nonpolyposis colorectal cancer (HNPCC) occurs as
well. Even with sporadic cancers, genetics may play a risk in the development of the cancer. People who
are diagnosed with HNPCC must follow a certain criteria, including age and family history of the
cancer. Those who have HNPCC may need different treatment from those with sporadic colorectal
cancer, and frequent screening may be necessary to detect when the cancer may begin developing due to
the inherited gene.
Application to Research:
The information in this article provides detailed information on colorectal cancer in a simple way
which allows me to understand the basis of this specific cancer, and the difference in the hereditary
cancer, hereditary nonpolyposis colorectal cancer (HNPCC). This will later allow me to gain a better
understanding of the information in complex scholarly research papers, so I can analyze the research I
collect from them. The article also talks about possible treatment for those with HNPCC or those who
have the gene.

Inherited genes and cancer types. (2015, June 2). Retrieved October 5, 2016, from
http://www.cancerresearchuk.org/about-cancer/causes-of-cancer/inherited-cancer-genes-andincreased-cancer-risk/inherited-genes-and-cancer-types#inherited_genes0
Summary:
This website has information about specific types of hereditary cancer, and describes the genetic
mutations which cause hereditary cancer to be gene faults. Some of the specific inherited cancer types

discussed include bowel cancer, breast cancer, kidney cancer, melanoma (skin cancer), ovarian cancer,
retinoblastoma (eye cancer), thyroid cancer, and womb cancer. Different syndromes and genes are
associated with each cancer, and each syndrome or gene is connected to the cancer and explained as to
its connection with the cancer being discussed. Statistics about each cancer is also provided to
demonstrate the severity or commonality of the syndromes or genes associated with the cancer. At the
end, it provides a brief summary of information of what should be done if a person believes they have an
inherited gene mutation which will cause hereditary cancer.
Application to Research:
This article is useful as it provides specific information about individual types of cancers which are most
often the ones which are inherited. This adds on to the research collected in previous reading reports as it
branches off from the main topic to give specific details about hereditary cancers.
Is cancer genetic? (n.d.). Retrieved June 9, 2016, from https://cpmc.coriell.org/Sections/Medical/Cancer
Risk_mp.aspx?PgId=98
Summary:
This online article shows not only how genetics can affect cancer, but also questions whether or not it is
actually a main cause of cancer. Though many people have inherited genetic mutations making them
more susceptible to cancer, not everyone develops cancer from that gene. Not everyone who has a
cancer gene will actually get cancer. A cancer gene is just an addition risk, like smoking, to developing a
cancer, but does not guarantee cancer, nor does lack of one guarantee immunity to developing cancer.
Generally, a single gene change is not the cause of cancer, but rather a series of genetic changes which
can contribute to the risk of developing cancer. Depending on the gene and the type of cancer, the
lifetime risk of developing cancer may be as high as 85% (Is cancer genetic?, n.d.).
Application to Research:
The information in this article provides information from both sides - about how some believe genetics
may be a large cause of cancer, while others believe the impact is insignificant. This allows me to
view both sides of the argument so I can gather the information and write a paper in an unbiased
manner. In addition, corroborating the information from this article with different sources can help me
corroborate information and eliminate possible bias that may be in the paper.
Iyevleva, A. G., & Imyanitov, E. N. (2016, August 23). Cytotoxic and targeted therapy for
hereditary cancers. Retrieved November 9, 2016, from
https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-016-0057-2
Summary:
This online research paper discusses various drugs that can be used for hereditary cancer treatments
and how specific drugs target certain gene mutations. These various treatments can either stop the cancer
once the gene has been activated and the cancer has begun to develop, or can possibly be used to prevent
the cancer from recurring. A table is used to display the drug that can be used for the hereditary cancer;
these treatments vary from normal cancer treatments, and can focus on the mutation causing the cancer
to effectively treat the patient. The testing for hereditary cancer is very important in such cases, as the
treatment for sporadic breast cancer may greatly vary from the treatment needed for hereditary breast
cancer. Through the use of diagrams, the article demonstrates how the various treatments work. Therapy
used on the BRCA1/2 genes which cause breast cancer break the DNA strand of the tumor cells with the

gene instead of normal cells with the inherited gene, thus causing cell death and optimally, curing the
cancer.
Application to Research:
In this article, information is provided about how specific types of hereditary cancers can be treated
with varying types of drugs. This gives insight as to what people who have been marked with a
hereditary cancer gene mutation can use for treatment.
Lincoln, S. E., Kobayashi, Y., Anderson, M. J., Yang, S., Desmond, A. J., Mills, M. A., . . .
Ellisen, L. W. (2015, July). A systematic comparison of traditional and multigene panel testing
for hereditary breast and ovarian cancer genes in more than 1000 patients. Retrieved November
17, 2016, from https://www.researchgate.net/profile/Federico_
Monzon/publication/280388311_A_Systematic_Comparison_of_Traditional_and_Multigene_Pa
nel_Testing_for_Hereditary_Breast_and_Ovarian_Cancer_Genes_in_More_Than_1000_Patients
/links/561d361e08aef097132b1d5b.pdf
Summary:
This online article compares the various types of testing used to detect hereditary breast and ovarian
cancer. Traditional gene testing generally tests to see if a person has one specific gene, whereas
multipanel gene testing is used to detect multiple genes at a time, a much more cost efficient way to look
for different genes. A person may test for one specific gene and the test may have negative results,
indicating they do not have the gene, but they may have another hereditary cancer gene that was not
tested and thus not detected. Experiments were run to see the effectiveness of multipanel gene testing
and its ability to detect the required genes. Though the panels did not detect every single gene, a
majority of them were detected, especially major ones which are usually the most threatening.
Application to Research:
This article has information about various types of genetic testing, and which is the most effective and
useful for detecting hereditary breast cancer and ovarian cancer genes. Since my focus for the synthesis
paper is on hereditary breast cancer, this article provides useful information which could allow me to
find more research about specific testing options in addition to the various treatments.
Marx, J. (2004, August 9). Gene defect identified in common hereditary colon cancer. National Review.
Retrieved from Opposing Viewpoints in Context database.

Summary:
The main idea of this web article was that hereditary genes can cause cancer and that it is possible for
certain cancers to run in families. Taken together, the results of the two groups leave little room for
doubt that they got the right gene (Marx, 2004). The author strongly supports the point of view that the
gene being tested is the cause of HNPCC (hereditary nonpolyposis colon cancer). The main support for
this idea is a study run by a group of scientists testing to see if a certain gene is the cause of the
hereditary nonpolyposis colon cancer. After running tests, the scientists found that the cause of the
HNPCC was that gene, as that same gene mutation was found in the cancer cells, and was the cause of
the colon cancer. In order to prove that that gene was the cause of the cancer, only the patients who
inherited the cancer should have the mutated gene.

Application to Research:
This article is useful as it provides information on a research study conducted to test the impact of a
certain gene mutation on the corresponding hereditary colon cancer. This provided a summary of
information from the study which gives me an idea of the type of information and things I should be
looking for when I find in-depth research papers for various studies relating to the topic.
Oncogenes and tumor suppressor genes. (2014, June 25). Retrieved December 21, 2016, from
http://www.cancer.org/cancer/cancercauses/geneticsandcancer/genesandcancer/genes-andcancer-oncogenes-tumor-suppressor-genes
Summary:
This website explains that proto-oncogenes aid the growth of cells, but if this gene mutates and becomes
detrimental to the body, it is called an oncogene. It causes cells to reproduce too rapidly, which can
possibly cause cancer. Certain inherited mutations can activate oncogenes, but it is usually caused by
mutations which are not hereditary, such as errors in gene duplication or arranging the chromosomes in a
way which causes the two genes to activate each other. Tumor suppressor genes serve the opposite
purpose of proto-oncogenes, instead decreasing the cell reproduction by slowing the cell division
process. These genes are also able to fix mistakes in the DNA and kill unhealthy or tumorous cells
through apoptosis. Opposite of the oncogenes, if the tumor suppressor genes are deactivated, they can
lead to cancer.
Application to Research:
This article includes information about oncogenes and tumor suppressor genes as it relates to general
cancer as well as hereditary cancer. The content in this article helps me better understand research papers
and books (such as the one about DNA methylation) so I can actually understand how everything
functions and how certain treatments will be more effective.
Prensner, J. R., Chen, W., Iyer, M. K., Cao, Q., Ma, T., Han, S., . . . Feng, F. Y. (2014, March 15).
PCAT-1, a long noncoding RNA, regulates BRCA2 and controls homologous recombination in
cancer. Retrieved January 4, 2017, from http://cancerres.aacrjournals.org/content/74/6/1651.full
Summary:
This online research paper is about double-stranded DNA break (DSB). The article discusses DSB in
the context of both sporadic cancers and hereditary cancer, though issues with the DSB process are most
commonly seen in hereditary cancers. In hereditary cancers, the DNA break process is stopped so that
the cancer cells cannot be destroyed. Drugs that allow the process of DSB to occur will break the DNA
strands that have inherited gene mutations such as BRCA1, BRCA2, and others. Once DNA strands with
the activated gene mutations are destroyed, the cell will go through apoptosis, allowing the cancer cells
to be destroyed.
Application to Research:
In this article, information is given about the processes of double-stranded DNA breaks. It shows how
drugs that enable this process can effectively destroy cancer cells and stop the cancer from spreading.
This allows different drug options to be compared to find the best treatment option.

Schneider, K. A. (2012). Counseling about cancer: Strategies for genetic counseling (3rd ed.).
Retrieved from https://books.google.com/books?id=3A256JDDkYMC&printsec=
frontcover#v=onepage&q&f=true
Summary:
This eBook is a compilation of information on the various cancer syndromes and their effect on the
development of hereditary cancers, providing specific case examples. Hereditary cancer is often more
difficult to detect; with an onset at a much earlier age, the cancer develops quickly and symptoms are not
apparent until much later stages in which treatment methods are not very effective on the patient as the
cancer has already spread. The book explains the effects of factors such as age, ethnicity, and gender in
addition to the hereditary situation of the patient, providing a thorough analysis of the possible cause of
the cancer. The screening methods and treatment for breast cancer and colorectal cancer are described,
and information on genetic counseling for these cancers are given as well. Cancer histories of families
are investigated in order to see if genetic testing is required for the patient, and the likelihood of the
cancer developing can be determined.
Application to Research:
This eBook provides a variety of information on cancer, including general cancer and treatment
information, but additional information on specific types of hereditary cancer syndromes as well. For my
research, I can focus on certain syndromes, such as breast-ovarian cancer and gastrointestinal cancers
(colorectal tumors), as I have found much research about the gene mutations associated with these
cancers.
Scott, J. (2017, January 12). [Telephone interview by the author].
Summary:
This interview was conducted with genetic counselor Jessica Scott. In this interview, I learned that the
average breast cancer risk for women is 12%, and the risk increases to about 50-85% for a woman who
has the BRCA1/2 gene mutation. For ovarian cancer which can also be caused by the BRCA1/2 gene
mutation, the risk increases from 2% to 20-40%, so the probability of a person with a hereditary gene
mutation developing cancer is much higher. When people find out they have an inherited gene mutation
like BRCA1/2 they may go through extra and more thorough screenings from a younger age, starting
annual mammograms at the age of 25 in addition to annual breast MRIs. There are also screenings and
tests available for ovarian cancer, but they are not very effective as they often produce a false negative
result. There are also preventative medications that can be given that can decrease the risk of the cancer
up to 50%, though these medications do also have many risks due to the hormones associated with the
medicine, such as risk for DVT or a slight increase in risk for uterine cancer in older women,
Additionally, bilateral mastectomy and removal of the ovaries are other options for women who carry
the BRCA1/2 mutation. Genotoxic drugs with PARP inhibitors also seem to be very effective with very
promising results, but since it is still a new treatment there is not that much information about it, but
more clinical trials are being conducted to test the effects that the drugs may have on patients. The
BRCA gene mutation can also cause breast cancer or prostate cancer in men, and they are equally at risk
and also need screenings and can take preventative medications for the cancers..
Application to Research:
A series of questions related to the topic of hereditary cancer were asked and professional Jessica Scott
answered the questions, in which information was gained about the nature of the disease, screening,

and treatment options specifically for BRCA. All of the information was beneficial and can be applied
to the research paper.
Swift, L. H., & Golsteyn, R. M. (2014, February 25). Genotoxic anti-cancer agents and their
relationship to DNA damage, mitosis, and checkpoint adaptation in proliferating cancer cells.
Retrieved November 30, 2016, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975345/
Summary:
This online research paper provides background on DNA and includes diagrams demonstrating the
various kinds of DNA damage, including base depurination, base oxidation, base deamination, base
methylation, intrastrand crosslink, interstrand crosslink, and DNA-protein crosslink. The genotoxic
properties of various drugs are analyzed and explained as to find which ones should be used for which
types of DNA damage, allowing the genetic mutation to be effectively removed. Alkylating agents in
genotoxic drugs use intrastrand crosslinks for damaging the mutated DNA. Platinum genotoxic drugs
can be used for hereditary ovarian cancer and lead to intrastrand, interstrand, and DNA-protein
crosslinks in order to break the DNA strands, resulting in apoptosis to remove the tumorous cells with
the genetic mutation for hereditary ovarian cancer.
Application to Research:
In this article, there is information about genotoxic drugs used for cancer, which can help me better
understand and analyze this treatment option so that I may answer the research question and find
which drug or treatment method works the most effectively on patients with hereditary cancer.
Warner, E., Plewes, D. B., Shumak, R. S., Catzavelos, G. C., Di Prosper, L. S., Yaffe, M. J., . . .
Narod, S. A. (2001). Comparison of breast magnetic resonance imaging, mammography, and
ultrasound for surveillance of women at high risk for hereditary breast cancer. Retrieved January
11, 2017, from http://ascopubs.org/doi/full/10.1200/jco.2001.19.15.3524
Summary:
This online research paper talks about hereditary breast cancer caused by BRCA1 and BRCA2 and
how people who have been genetically tested and are positive for these gene mutations must undergo
screening to determine whether they have developed the cancer yet or not. About 80% of patients with
these gene mutations associated with breast cancer will develop the cancer during their lifetime, and
once the cancer has developed in one breast there is a 30% likelihood that it will develop in the other
breast as well, especially since hereditary cancer specifically seems to target organs in pairs. A study is
conducted whose subjects are females with both the BRCA1 and BRCA2 gene mutations and females
who have a strong family history of either breast or ovarian cancers. Four different types of screening
are used, including mammograms, ultrasounds, MRIs, and clinical breast examinations. The results of
the various screenings are compared to determine the efficacy of each examination type for subjects with
BRCA1, BRCA2, or cancer family history. The MRI correctly yielded positive results of breast cancer
for a sample of the 196 subjects which included all three types, BRCA1, BRCA2, or cancer family
history. The MRI screening seems to be the most effective, and the size of the tumors were recorded as
well.
Application to Research:
The main focus of this article is on hereditary breast cancer caused by the gene mutations BRCA1 and
BRCA2. It gives information about the risks of developing breast cancer from these gene mutations and

the available screening options. The study that is conducted provides data which can be applied to my
research.
Wexler, B. (2010, April 28). Genetic testing. In Genetics and genetic engineering. Retrieved
from Science in Context database.
Summary:
This database article includes detailed, in-depth information about genetic testing, looking at a wide
scope of genetic testing rather than only cancer, providing an understanding on how genetic testing for
inherited cancer differs. Genetic tests are when DNA is examined to detect mutations, genotypes,
phenotypes, karyotypes, etc. These tests can be used for a variety of reasons - ranging from the
identification of future risks to actual diagnosis to prognosis on the outcome of a certain drug. For
identification of hereditary gene mutations which may possibly lead to the development of hereditary
cancer, the DNA of the patient is analyzed to find these specific mutations in the genetic code. Several
diagrams are included throughout the article to demonstrate certain types of genetic testing and how they
worked, including cutting DNA with the use of restrictive enzymes, gel electrophoresis, special
karyotyping, microdissection, etc. For genetic cancer testing, a method often used is microarray
technology, which can detect gene mutations which have been inherited.
Application to Research:
This article provides detailed information about genetic testing, providing a lot of the biological
background behind it as well as information about the testing in relation to gene mutations indicative of
hereditary cancer risks. Understanding genetic testing in a general context with the biology of the
procedures helped me have a better grasp on the process of genetic testing that is used to indicate the
cancerous mutations. Additionally, there is information about how the results of the genetic testing can
allow people to choose the best treatments for themselves.
Wilson, S., Jones, L., Coussens, C., & Hanna, K. (2002). The links between environmental factors,
genetics, and the development of cancer. Retrieved June 9, 2016, from
http://www.nap.edu/read/10464/chapter/5
Summary:
This web article talks about how certain factors can cause cancer, including hereditary genes. It also
finds connections between different factors discussed in the article. For example, some people may be
more at risk for developing cancer through certain environmental factors due to some inherited gene.
Analyzing the genes of various family members can help to find gene mutations which may repeat and
cause cancer to run in families. Exposure to certain environments or certain other factors, such as
smoking, may put someone at an even higher risk for developing cancer if they are a person who already
has a genetic disposition due to familial cancer genes.
Application to Research:
This article is useful as it provides knowledge on the topic of cancer and the role of various factors such
as inherited genes on the cause and development of the cancer. The information from this article can be
used to see the relationship between inherited gene mutations and the progression of cancer.
Additionally, it can show the relationship between genetics and other common factors which may cause
cancer, and how they affect each other and increase the probability of developing cancer.

Yadav, S., Berz, D., Somlo, G., Ashling, K., Yuan, Y.-C., Hickey, R. J., . . . Riggs, A. D. (2016,
July 15). Abstract 2160: Targeting SMC1 in combination therapy for triple negative breast
cancer. Retrieved January 4, 2017, from
http://cancerres.aacrjournals.org/content/76/14_Supplement/2160.short
Summary:
This online research paper talks about breast cancer and what gene mutations generally cause it and
the defining characteristics of the cancer. Platinum compounds and inhibitors such as poly(ADP-ribose)
polymerase (PARP) inhibitors target DNA so the DNA with inherited gene mutations which are
activated can be destroyed, thus destroying the cancer cells and preventing the cancer from spreading.
The article also details the use of stem cells as a treatment for hereditary breast cancer to replace the
cancer cells. Experiments were run using these various treatment methods and while they were effective,
specific data is not provided.
Application to Research:
This articles main focus is on hereditary breast cancer caused by the gene mutations BRCA1 and
BRCAF2. It includes information about various inhibitors and elements that can be used in drugs to treat
hereditary cancer. These various options can be compared in order for the best treatment to be used for
people with hereditary breast cancer according to its defining characteristics.