Anika Shah - Understanding the Genomic and Socioeconomic Factors of Breast Cancer Patients

Aug 15

Click here for Anika’s full presentation slides and here for the video!

Abstract

Breast cancer is a disease that affects every one in eight women in the USA, and stems from causes that are found in the majority of women. Current research has been trying to find correlations between genetics and socioeconomic status in breast cancer patients. While much research has been conducted, a clear and concise discovery has not been made. With this in mind, this proposal wants to look at more aspects of one’s life, such as their diet, their lifestyle, how active they are, and their DNA. This experiment will shed light on various reasons as to why breast cancer is more common amongst certain groups, and how the disease can be more easily prevented in the future.

Introduction

Literature Review

To begin, it is essential to know the basis of what breast cancer is. Breast cancer is a type of cancer, formed in the tissue found in the breast. While it may start forming there, it is possible for the cancer to spread to other parts of the body. If it does not spread to other parts or organs, then the cancer can be classified “in situ.” Just as there is with most cancers, breast cancer comes in different types , including ductal carcinoma (most common), lobular carcinoma, inflammatory breast cancer (relatively rare), as well as Paget’s disease of the breast (relatively rare).

The causes surrounding breast cancer are all related to genetics, which can be inherited from one’s biological parents, or by environmental factors. These changes in DNA that code for breast cancer include small alterations in gene sequences BRCA1 and BRCA2, (American Cancer Society, 2021). These small alterations can initiate a tumor growing in the breast. When this happens, there are many symptoms, including pain in the breast, changes in breast shape, nipple discharge, rashes and unusual bumps on the breast, and a couple more. As these symptoms progress, malignant tumors can form, which can be deadly for one’s long-term health if not cared for.

While breast cancer is a genetic disease, there are definitely aspects of your life that can put you at higher risk for getting it. Woman are far more likely to get it, making simply being a biological female a risk in itself, as well as having family history of the disease, menstruating at an early age, giving birth late or never giving birth , menstruating at a late age, taking hormone therapy, obesity, radiation therapy to chest, and drinking alcohol (American Cancer Society, 2021). In order to treat the cancer, there are a few options for the patient, which they can discuss with their doctor and loved ones. Mastectomies and lumpectomies are surgeries, which remove both or one of the breasts, so that it doesn’t spread to any other parts of the body. Radiation therapy and chemotherapy both try to kill the cancer cells. Hormone therapy keeps the cancer cells away from certain hormones that give the cells the ability to grow (Jee et al., 2005). In all cases, those in the demographics described above are more susceptible to these expensive procedures that may not be readily available for low-income populations.

Socioeconomic factors also play an important role in how patients are able to deal with breast cancer. In terms of genetics, African American women have been found to be the most susceptible to the disease, and have the higher mortality rate. As Yedjou says in their paper on socioeconomic contributors of breast cancer patients, the reasoning behind this seems to stem from these womens’ history (2019). Due to the slave trading that occured in Ghana, women with ancestry from there have been found to have the Duffy-null allele, which seems to increase their chances of the disease being more aggressive. The American Association for Cancer Research found that women with the allele “are disproportionately diagnosed with the most aggressive molecular subtype of BCa, triple-negative BCa” (2015). Multiple studies such as this have shown that this specific allele seems to promote tumor growth, making it deadlier and far more aggressive. While this is correlated to race, studies show that there are “limitations of using self-reported race and suggested use of ancestry informative markers to characterize an individual's biological ancestry” (Martini, Manley, and Davis, 2018). Because of this, our proposal will focus on the genetic makeup of women’s DNA, rather than simply their race.

Finally, while one’s genetic makeup and socioeconomic status may not be entirely in one’s control, lifestyle can be critical in helping reduce the chances of getting breast cancer. For example, maintaining a healthy body weight can be crucial; as “central obesity, insulin resistance, and decreased tolerance to glucose” were correlated in women with the aggressive subtype of breast cancer, TNBC (Yonsei, 2005). Diseases like obesity and even diabetes can easily be connected to lifestyle, meaning that a woman's way of living can contribute to her chances of getting breast cancer. Experimenting on the exact causes of this would give us a clearer understanding on how to prevent getting the disease.

Alongside these causes, lack of adequate health care is also a factor in terms of breast cancer. Those that survive are often diagnosed early on, but those that aren’t able to access the proper testing have lower chances of surviving, due to the late-state diagnosis. This is not due to one’s race, but moreso “access to health care”(Front. Public Health, 2020). Pinpointing these areas will be a focus of our proposal, to determine which areas need more focus, and hopefully prompt healthcare services to make themselves more available to the people residing there.

Rationale

Conducting an experiment on the socioeconomic and genetic effects on breast cancer would provide much needed information, which could then provide for more preventions of breast cancer in women. This goal speaks for itself, as it could be saving lives and improving people’s quality of life. While there has been research done on this, many provide room for more genetic tracing, and more pinpointing of certain aspects, such as specific areas where breast cancer rates are high.

Objectives

Our experiment will include two parts, one in relation to genetics, and the other related to socioeconomic and lifestyle factors. For the genetics experiment, we propose taking DNA samples of women that have breast cancer, studying both the type of breast cancer she has, and also where her ancestry traces back to. This procedure will be used to verify or counteract past and current research on genotyping breast cancer. With the information that we obtain as well as other resources, we propose collecting socioeconomic and lifestyle data from women with breast cancer, namely their BMI, their average diet and workout routine, their weight, and their access to a doctor, and how often they see them. We would make this anonymous, so we could collect things such as their ability to pay for treatment and recovery.

Design & Methodology

Duration and Location

For the genetic testing, we will be collecting DNA samples from women with breast cancer, as the most important factor is their genetic makeup, and it’s correlation to their diagnosis. These DNA samples will come from Oakland, as there is a wide range of ethnicity, socioeconomic class, and race, to ensure best results.

For the data collection in terms of lifestyle, we plan to target 3 main cities located in California. These will be Farmersville and Fresno, to emphasize lower classes with smaller incomes, and for comparison, we will collect data from Los Altos, where the general income is higher.

Subjects

In the genetic portion of the research, we will collect DNA from cancer patients who live in Oakland, and try to mainly collect from black and white women with breast cancer. We want to focus on their small genetic differences, and see if they have any relation to their diagnosis. Because of this, Oakland is a good choice, as it’s racial makeup consists of 35.5% white people and 23.8% black people.

In the lifestyle portion, the experiment will focus on San Mateo. We plan to collect data from breast cancer patients in the houses that live near San Mateo High School, as their income is lower, in comparison to the people that live in the hills in San Mateo, who we will also collect data from. This gives us an insight of how quality of life can affect breast cancer. We will survey them about different factors of their life, as well as income, and the severity of their disease. To ensure that people feel safe sharing, it will be done anonymously.

Materials

DNA Samples

Blood culture tube
Needles
syringes
Tape
Gauze
Rubbing alcohol

Lifestyle Surveys

Online surveys sent out to local hospitals to give to patients
Questions about BMI, workout routine, daily work, diet, etc. (this would be prior to when they were diagnosed)

Subjects

Women with breast cancer living in:

- neighborhood around San Mateo

-Breast cancer patients from Oakland

Data Analysis

In order to collect the data for the genetic portion, we will have to contact hospitals in Oakland, including Highland Hospital, Providence Hospital, and Oakland Medical Center. From there, we will ask them to contact their breast cancer patients and ask for their saliva DNA test. We could also request this from the National Institute of Health, where the Epigenomics and DNA Sequencing Core Facility may use next-generation sequencing to test for core genetic sequences correlated with breast cancer as well as find other unaccounted patterns. This will allow us to obtain samples from various backgrounds, and see if there are any genetic similarities between those with more aggressive subtypes of cancer.

In terms of the lifestyle component, the ordeal won’t be as straightforward, as we are collecting answers and personal experiences, not DNA samples. In order to do this, we will set up stations at hospitals in San Mateo, and survey patients from the breast cancer wing. We will also contact the doctors themselves, and have them ask their patients the questions that have been discussed above. As stated before, this will be anonymous, to maintain patient confidentiality.

Discussion

Ethical Considerations

Our proposal prompts no harm towards the subjects, nor the ones conducting the experiment.

Expected Outcomes:

From this experiment, we hope to gain further insight on different genetic, socioeconomic, and individual factors that may affect one’s susceptibility and ability to cope with breast cancer. Having a list of these factors would be presented to various medical professionals, who could then further this research and discover ways to scan for them early on. This could reduce the death rate, and help women feel safer, knowing what they should do to prevent breast cancer from taking over their body.

Bibliography

American Cancer Society. 2019. Breast Cancer Risk Factors You Cannot Change: Genetic Risk Factors. https://www.cancer.org/cancer/breast-cancer/risk-and-prevention/breast-cancer-risk-factors-you-cannot-change.htmlhttps://www.cancer.org/cancer/breast-cancer/risk-and-prevention/breast-cancer-risk-factors-you-cannot-change.html

Jee, S. H., Kim, H. J., & Lee, J. (2005). Obesity, insulin resistance and cancer risk. Yonsei medical journal, 46(4), 449–455. https://doi.org/10.3349/ymj.2005.46.4.449

Martini, R. (2018, July 1). Abstract 5119: In vivo characterization of the Duffy Antigen Receptor for Chemokines (DARC) in the breast cancer microenvironment. Cancer Research. https://cancerres.aacrjournals.org/content/78/13_Supplement/5119

MedlinePlus. 2021. Breast Cancer: Symptoms. https://medlineplus.gov/breastcancer.html