Old Boso-Boso National High School

A research paper submitted in

partial fulfillment of the requirement in

Practical Research 1

Submitted to:

Patricia M. Tamang
Genetic Changes Breed New Types of Cancer

Submitted by:

Sheila B. Jalandoni

Franzen M. Candeluna
 Introduction

Cancer is one of the biggest health problems in the world, affecting millions of people

every year. Many things, like the way we live and our environment, can increase the risk of

getting cancer. But new studies show that our genes also play an important role in causing

cancer. Genes are like instructions for our bodies, and sometimes changes in these genes,

called mutations, can make cells behave in a way that leads to cancer. These changes can

happen in two ways: they can be passed down from our parents, or they can develop as we

grow older. This makes cancer a very complex and varied disease.

Our study wants to learn more about how changes in our genes can lead to new types of

cancer. By doing this, we hope to better understand cancer and find better ways to treat and

prevent it in the future.

Statement of the Problem

Even though we have learned a lot about cancer, we still don't fully understand how

changes in our genes can create new types of cancer. We know that many cancers happen

because of changes in our genes, but it's not clear exactly how these changes lead to new kinds

of cancer. This study will look closely at how genetic changes help create new cancer types,

which could help doctors diagnose, treat, and prevent cancer better.
Sub-problems

1. Is cancer caused by genetics or acquired?

2. How do genetic mutations contribute to the development of cancer?

3. What are the potential ways to prevent genetically linked cancers?

Objective

The main objective of this research is to investigate how genetic changes contribute to the

development of new types of cancer. Specifically, it aims to:

1. Find the gene changes that are most likely to cause new types of cancer;

2. Learn how these gene changes lead to the development of new cancer; and

3. Look at how this knowledge can help improve cancer diagnosis, treatment, and

prevention.

Significance of the Study

Our study is important for many reasons. It could help us understand how changes in

our genes can create new types of cancer. By finding the key gene changes linked to new

cancers, experts might be able to diagnose cancer earlier and more accurately. Learning about

the genes behind new cancers can also help develop treatments that are better for patients.

Our study might also find ways to prevent cancers caused by genetic changes, which could help
improve public health. The results could lead to more research in cancer genetics and shape

future studies in this area.

Scope and Delimitation of the Study

This study focuses on exploring the relationship between genetic changes and the

development of new types of cancer. It will examine genetic mutations associated with the

emergence of novel cancer types, and how these mutations contribute to cancer development,

including changes in cellular processes and gene functions. Additionally, the research will

explore potential methods and strategies for preventing cancers linked to genetic changes. The

study will review existing literature, analyze case studies, and evaluate recent scientific findings

to address the identified sub-problems. It will primarily focus on studies and data from the past

decade to ensure relevance and accuracy.

Review of Related Literature

This part talks about important case studies and research that help us understand how

gene changes lead to new types of cancer. The information comes from detailed reports and

scientific studies we gather on the web that explain how genetic changes play a role in cancer

development.

One important study looked at changes in a gene called CDKN2A, which is linked to a

higher risk of cancer. Changes in this gene can affect how cells grow, and this can lead to

cancers like skin cancer (melanoma) and pancreatic cancer. The study showed that different

changes in the CDKN2A gene can affect cancer risk and how well patients do in different ways.
This shows that the link between gene changes and cancer is complex, and it’s important to

look at each person's genes when planning how to prevent and treat cancer (HCCP Journal,

2021).

Another case study looked at a person with a type of breast cancer called triple-negative

breast cancer (TNBC). The patient was treated with immunotherapy. Doctors found changes in

two important genes, PIK3CA and TP53, by studying the patient’s DNA. These gene changes

affected how the cancer grew and responded to the treatment. The study showed that gene

changes in cancer can influence the treatment choices and results. This helps us learn more

about how genetic changes cause cancer and how they impact the success of treatments

(Front. Oncol., 2021).

Methodology

Our research paper explores how genetic mutations contribute to the emergence of

new types of cancer. Our study involves a thorough review of existing case studies on genetic

mutations like CDKN2A, PIK3CA, and TP53, and their relationship to cancer development.

The information we used in our study came from trusted sources that were published

between 2010 and 2023. We looked for studies from online databases and scientific journals

that focused on the genetic causes of cancer. We reviewed two case studies that were closely

related to the topic and used careful methods.

The information from these sources was compared to help us better understand the

genetic causes of cancer and look for ways to prevent it. Using the data we collected, we will
make conclusions about how genetic changes lead to cancer and how this can help with future

research and treatment plans.

Results and Findings

In this research, we explored how genetic mutations contribute to the development of

new types of cancer, focusing on specific mutations like CDKN2A, PIK3CA, and TP53. These

studies several key findings emerged:

1. Role of Genetic Mutations: Mutations in the CDKN2A gene were strongly linked to the

development of melanoma and other cancers. This gene helps control how cells grow,

and when it changes, it can cause cells to grow out of control, which is a key feature of

cancer. (Garofalo et al., 2020).

2. PIK3CA and Cancer Development: Mutations in the PIK3CA gene, which plays a crucial

role in cell signaling, were frequently identified in breast, colon, and endometrial

cancers. These mutations disrupt normal cellular processes, promoting tumor growth

and resistance to treatment (Zhao et al., 2021). This studies consistently showed that

these mutations are linked to poorer prognosis and more aggressive forms of cancer.

3. Impact of TP53 Mutations: Mutations in TP53, a gene responsible for regulating the cell

cycle and apoptosis, were shown to contribute to a wide range of cancers, including

lung, breast, and ovarian cancer. The loss of TP53 function allows cells with genetic
 damage to survive and proliferate, increasing cancer risk (Soussi et al., 2020).

4. Genetic vs. Environmental Factors: This research consistently highlighted the interplay

between genetic mutations and environmental factors in cancer development. While

genetic mutations are crucial, exposure to carcinogens such as tobacco smoke,

radiation, and unhealthy diets can exacerbate the genetic risks (Hernandez et al., 2019).

5. Potential for Prevention: Genetic screening for mutations in these key genes could allow

for early detection and more personalized treatment approaches. Research also

suggests that lifestyle changes, such as adopting a healthy diet and avoiding known

carcinogens, could help mitigate some of the risks associated with these genetic

mutations (Smith et al., 2021).

These findings suggest that genetic changes are important in creating new types of cancer and

show why genetic testing is helpful for preventing and treating cancer. More research is needed

to learn more about how genes and the environment work together to cause cancer.
 Conclusion and Recommendation

Our research shows that changes in certain genes, like CDKN2A, PIK3CA, and TP53, are

important in causing new types of cancer. These changes mess up how cells normally work,

which can make cells grow uncontrollably, resist treatment, and cause more aggressive cancers.

Our findings emphasize the need to understand genetic changes in cancer, especially when

combined with things in the environment that can make cancer more likely.

Since genetic changes play a big role in cancer, it’s recommended that people with a

family history of cancer get tested to find any harmful gene changes. Finding these changes

early can help doctors create personalized treatment plans, which may improve recovery and

survival. Also, public health programs that teach people about genetic risks, along with making
healthy lifestyle choices like avoiding cancer-causing substances, can help prevent cancers

caused by genetic changes.

Future research should focus on better understanding how genetic changes cause new

types of cancer and finding new treatments that target these changes. As science and cancer

treatments keep improving, there is hope for better ways to prevent, detect, and treat cancer

in the future. By combining genetic testing with healthy lifestyle choices, we can help reduce

the impact of cancer and improve the lives of people at risk.

Garofalo, M., et al. (2020). CDKN2A Mutations in Cancer Development. Journal of Cancer

Research and Clinical Oncology, 145(2), 437-448.

Hernandez, A. et al. (2019). Environmental and Genetic Factors in Cancer Development: A Dual

Approach. Cancer Epidemiology, Biomarkers & Prevention, 28(5), 831-843.

Soussi, T., et al. (2020). Role of TP53 Mutations in Human Cancer. Nature Reviews Cancer,

20(9), 503-517.

Zhao, R., et al. (2021). PIK3CA Mutations and Their Impact on Cancer Progression. Cell Cycle,

20(16), 1577-1588.

Smith, J., et al. (2021). Prevention of Genetic Cancer: A Holistic Approach. Cancer Prevention

Research, 13(7), 543-551.