RESEARCH PROPOSAL

Sahar Mahate
Independent Research II G/T
2016-2017

Title: The Genetics of Cancer: Prevention and Treatment for BRCA1/2

Introduction and Overview of Research:

The research of this project focuses on finding how gene mutations increase susceptibility to
developing hereditary cancers, and how the best treatment options can be found for such cancers.
Being able to detect the gene mutations before cancer development can allow a person to take
precautionary measures against the cancer, and even detecting it in the early stages of the cancer
can allow more effective therapy or treatments to be used specifically targeting that gene
mutation or hereditary cancer.

Background and Rationale:

Hereditary cancers comprise of 5-10% of all breast cancers, and up to 20% of various
other types (What is hereditary cancer?, n.d.). Cancers which are hereditary are caused by
inherited gene mutations, errors in the DNA which are passed on through generations in families.
Though the inheritance of these mutations does not guarantee that a person will develop cancer,
there is a 50-85% risk increase for developing breast cancer with the BRCA1/2 mutation, and
varying risk increases for others. The BRCA1/2 mutation can cause breast cancer, ovarian
cancer, and a wide array of others, but the inheritance of this gene is mostly associated with
breast cancer, and though it is more common in females, the gene mutation can be inherited and
lead to breast cancer for males as well.
Genetic tests or DNA sequencing can be used to detect these inherited mutations (Lincoln
et al., 2015). Though genetic testing is often expensive, next-generation sequencing is an
economical option which works efficiently to detect genetic mutations, yielding results much
more quickly than other types of genetic testing (Feliubadal et al., 2012). The timing of genetic
tests proves vital, because the sooner one can find out about an inherited gene mutation, the
sooner action can be taken against it, and the higher the probability that the cancer can be
prevented (Francken, Schouten, Bleiker, Linn & Rutgers, 2013).
Knowledge of whether one has an inherited gene mutation can be beneficial, allowing
preventative steps to be taken as well as the use of many specific treatment methods which can
target the cancer more effectively than traditional cancer treatments. This topic is one of great
importance, as preventing and treating hereditary cancers more effectively can reduce the
number of fatalities caused by the cancer.

Research Methodology:
Research Question: What treatment will work the most effectively to fight against hereditary
breast or ovarian cancer caused by the BRCA1/2 inherited gene mutation?
Research Hypothesis: If a person inherits the cancer-causing BRCA1/2 gene mutation, genotoxic
drugs can work the most effectively against the cancers caused by the mutation.
Research Design Model: This research project uses experimental qualitative data. This design
model would allow the effectiveness of different types of treatments to be measured using
descriptive results.
Data Collection: For the data collection, meta-analysis can be used. In this process, many
research papers will be collected focusing on the various types of treatments that can be used for
hereditary cancer caused by gene mutations such as BRCA1 and BRCA2. From this, the data can
be compared and analyzed in order to draw original conclusions. This method of quantitative
data collection works the best for this project as finding enough professionals in the field to
conduct interviews is difficult, and conducting original experiments is not possible due to the
nature of the project. The information from the sources that have been collected will help support
the data being analyzed and compared.

Product Objectives:
A brochure can be created to inform the general population on the importance of evaluating
family history which could be indicative of an inherited gene mutation which may cause cancer.
This audience will learn and benefit the most from this information as they are likely to be at a
level of knowledge where they know what gene mutations are, and will be able to understand
how some treatments for hereditary cancer work on a basic level. The brochure could include
indicators of hereditary cancer, and how they can receive genetic counseling who will inform
them whether genetic testing is necessary. In addition, it could include general information about
hereditary cancer and how it differs from other cancers, making different treatments more
effective. This could be distributed through school in biology classrooms.

Logistical Considerations:
The product will need a large amount of copies to be printed in order to be distributed in
classrooms, as mentioned above.

Timeline:
March 6 - Due date of the timeline. I will create an outline detailing how I will accomplish all
my tasks. Throughout this period of time, I will continue to complete bi-weekly objectives and
journals and periodically conference with Dr. Kiehl.
March 6-15 - I will look for two more research papers in which treatments for hereditary cancer
are tested. I will try to find research papers with as many consistent variables as possible.
March 15-23 - I will begin preparing for the oral presentations in the class.
March 15-April 6 - I will analyze the data from the sources I collected. I will also update my
digital portfolio for quarter 3.
March 24-April 6 - I will present my research from this year in a PowerPoint to the class.
April 6-April 8 - I will begin to plan my display board and brochure and get my plans approved
by Dr. Kiehl.
April 8-18 - I will complete the final paper (finishing the abstract) and get approval from my
advisor.
April 11 - I will send a handwritten thank you card to my advisor.
April 15-28 - I will work on my display board and get teacher approval, in addition to the
preparation of a 2-3 minute speech for the board.
April 28-May 2 - I will get my display board peer edited and practice my speech for the board.
May 9 - I will attend the Celebration of Excellence and present my display board.
May 2-13 - I will work on my brochure and conference with Dr. Kiehl to get it approved.
May 14-24 - I will prepare for my oral presentation to another class.
May 25-31 - I will present my research to another class sometime during this period of days and
distribute my brochures.
May 31-June 9 - I will update my binder and digital portfolio.

Approval:

_________________________ __________________________ _______________________

Student Signature G/T Resource Teacher Signature Mentor/Advisor Signature
 References

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

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_Multig
ene_Panel_Testing_for_Hereditary_Breast_and_Ovarian_Cancer_Genes_in_More_Than
_1000_Patients/links/561d361e08aef097132b1d5b.pdf

What is hereditary cancer? (n.d.). Retrieved February 6, 2017, from http://patients.ambrygen.co

m/cancer/know-the-basics/genetics-101/what-is-hereditary-cancer