Ann, a 27-year-old nurse, feels a lump in her breast and sees her doctor. Tests reveal she has breast cancer, though it was caught early. Her doctor recommends further genetic testing to see if she has mutations like BRCA1/BRCA2 that increase cancer risk. If so, more aggressive treatment would be needed like removing both breasts preemptively. Ann learns about DNA, genes, mutations, and a test called Oncotype that examines gene expression in cancer cells to determine aggressiveness of her tumor.
Ann, a 27-year-old nurse, feels a lump in her breast and sees her doctor. Tests reveal she has breast cancer, though it was caught early. Her doctor recommends further genetic testing to see if she has mutations like BRCA1/BRCA2 that increase cancer risk. If so, more aggressive treatment would be needed like removing both breasts preemptively. Ann learns about DNA, genes, mutations, and a test called Oncotype that examines gene expression in cancer cells to determine aggressiveness of her tumor.
Ann, a 27-year-old nurse, feels a lump in her breast and sees her doctor. Tests reveal she has breast cancer, though it was caught early. Her doctor recommends further genetic testing to see if she has mutations like BRCA1/BRCA2 that increase cancer risk. If so, more aggressive treatment would be needed like removing both breasts preemptively. Ann learns about DNA, genes, mutations, and a test called Oncotype that examines gene expression in cancer cells to determine aggressiveness of her tumor.
Ann, a 27-year-old nurse, feels a lump in her breast and sees her doctor. Tests reveal she has breast cancer, though it was caught early. Her doctor recommends further genetic testing to see if she has mutations like BRCA1/BRCA2 that increase cancer risk. If so, more aggressive treatment would be needed like removing both breasts preemptively. Ann learns about DNA, genes, mutations, and a test called Oncotype that examines gene expression in cancer cells to determine aggressiveness of her tumor.
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The Case Study in Cancer
Part I Ann is a 27-year-old nurse working at the local hospital in surgery. She had worked hard to move into the specialty, and she was enjoying her career, friends, and family. She and her partner had been living together for about a year, and she was content. As a nurse, Ann knew the importance of doing breast self-exams, and did them regularly. In the shower one morning, she felt a lump she wasn’t familiar with. Ann was a bit worried, even though there was no history of breast cancer in her family, so she made an appointment with her doctor.
1. If Ann has a tumor in her breast, is it necessarily cancerous? Differentiate between a
benign tumor and cancer at the cellular level. No, it is not necessarily cancerous. A benign tumor has non-cancerous cells, and won't attack or spread to nearby tissue/cells. Unlike a cancerous (or malignant) tumor, the cells of a benign tumor have normal chromosomes and DNA, while malignant ones may have abnormal shapes, unusual chromosome counts, and cells with much larger and darker nuclei (Baba & Câ toi, 2007).
Part II Ann’s doctor is worried enough to send her to a breast cancer specialist, just to be safe. Ann makes an appointment and is referred for a mammogram, which will image the soft tissue in the breast. After the mammogram and an exam, she meets with the surgeon, Dr. Hernandez. Dr. Hernandez is also concerned, as she felt and has images from the mammogram of a small tumor. She recommends a biopsy of the tumor as soon as possible. Ann goes in the same day for the quick surgical procedure where a needle is inserted and part of the tumor is taken for analysis. The tumor will be analyzed by a pathologist, a specialist in looking for disease in tissue samples.
1. The pathologist examines the cells taken from the tumor, particularly the number of cells in mitosis. Below are the results. In normal breast cells, one would expect 0-4 cells per 10 high-powered field of view (microscopy) undergoing mitosis.
Based on the above results, what can you conclude about the tumor cells? Can you say definitively that they are cancerous? Be sure to support your answer with the data above. Based on these results, it would appear that the cells may be cancerous. This is because, as stated, normal breast cells should have 0-4 cells per 10 high-powered field of view, but Ann is showing more than 4 in every stage besides prophase and telophase. Of particular concern is interphase. Assuming the given statement that 0- 4 is an expected number of cells to view, this is concerning given that we can observe 120 in this phase.
2. The pathologist also looks for three receptors on the tumor cells: estrogen receptors, progesterone receptors, and HER2 receptors.
a. What type of macromolecule class are cell receptors? What is the monomer? Cell receptors are proteins, which means their macromolecule class is carbohydrates, and thus making the monomer monosaccharides.
b. What is the role of cell receptors in cellular function?
Cell receptors are proteins which receive a chemical signal where a protein- ligand binds a protein receptor. The ligand is a chemical messenger released by one cell to signal either itself or a different cell. The binding results in changes in the cell, such as altering gene transcription or translation or changing cell morphology (Miller & Lappin, 2021).
c. Ann’s tumor was positive for estrogen and progesterone receptors, but negative for the HER2 receptor. What is the role of estrogen receptors on a cell? Remember to cite your sources using APA Style. Estrogen receptors regulate the transcription of hundreds of genes and ultimately leads to cell division, as well as having an important role in mammary gland development, and cell proliferation growth that occurs during pregnancy (Strauss & Barbieri, 2009)
Part III Dr. Hernandez sits down with Ann and her partner. The doctor is sorry to report that Ann has breast cancer; however, because it was caught early and responds to estrogen and progesterone, the prognosis is good. At this point it looks like the cancer is stage 1. However, as Ann is young, the doctor wants to perform a couple tests. The first test is a genetic sequencing test for BRCA1 and BRCA2, as well as testing for other genes known to increase the risk of cancer. The other test is an Oncotype DX test on the tumor cells. This is a gene expression test, where the results correlate with how aggressive the cancer cells are. Ann is overwhelmed, but wants to do everything she can to get rid of this disease.
1. As a result of your discussions, you know that mutations in BRCA1 and BRCA2 increase the risk of breast cancer. Because of this, a positive test for these mutations would mean different treatment for Ann, including removal of both her breasts (bilateral mastectomy) as well as her ovaries to prevent ovarian cancer. Ann decides to have the test done, but she is a little hazy on the biology of DNA.
a. Describe the basic structure and function of a gene.
A gene's basic structure is composed of a sequence of deoxyribonucleic acid, also known as DNA (Clark et al., 2018). This DNA holds the information needed for cells to make various types of proteins. These proteins will go on to do various types of functions all throughout the human body. Additionally, these genes carry the information that dictates what an organism is like, such as their eye color, height, hair color, and so on.
b. At the molecular level, what is a mutation? Are all mutations harmful? What type of mutation does not lead to a change in protein structure? A mutation is when the nucleotide sequence/bases of DNA are altered in any way, such as by means of substitution, addition, or deletion. Mutations aren't inherently harmful or bad, although they very easily can be. A silent mutation is one that is not expressed, and is usually due to a substitution in the third base of a codon, which often represents the same amino acid as the original codon (Clark et al., 2018). Because this effect would often have no effect on the protein's structure, it is thus known as the “silent” mutation.
c. The polymerase chain reaction (PCR) is a method that can be used to detect mutations. It uses machinery similar to your cells to replicate a specific DNA sequence, which in this case would be only the mutated gene. Describe the basic process of DNA replication in a cell. There are three main phases to DNA replication. First, the DNA (in a helix shape) begins to “unzip,” as it opens and the two strands separate. Next, various enzymes and proteins will prepare both of these strands for duplication. Last, a new strand of DNA is assembled, as an enzyme called DNA polymerase helps to put the new strands together (Clark et al., 2018).
2. Also, as a result of your discussion, you know that the expression of genes can change in cancerous cells versus noncancerous cells. The Oncotype test will look at the expression levels of several genes in her tumor cells by looking at the mRNA produced.
a. What role does mRNA play in the flow of information in the cell? (Hint: Remember the central dogma of molecular biology.) Please include the basic flow of information in the cell. The mRNA helps to transcribe DNA. This is done to get the information stored in DNA outside of the nucleus, allowing the ribosomes to process and read the information and synthesize proteins. Essentially, DNA will create the mRNA, which will then be used to send the information from the DNA to help create proteins (Clark et al., 2018).
b. Cancer cells and noncancerous cells may have almost identical DNA; however, gene expression can change. Explain the concept of differential gene expression using cancer versus noncancerous cells as an example. The control of which genes are expressed dictates whether a cell is something like an eye cell or a liver cell. It is the differential gene expression patterns that arise in different cells that give rise to a complete organism (Clark et al., 2018). While cells may contain the same genetic information in them, the genes that are “active” will help to determine the function of said genes, and their role in our bodies. When looking at a cancerous and noncancerous cell, cancerous cells effectively have a mutation that causes them to continue to multiply beyond a point that they should. This mutation can be due to small changes in their genes, leading to unchecked growth, causing these cells to stray from their intended function.
c. This Oncotype test uses microarray analysis to determine gene expression.
Explain to Ann what a microarray is. A microarray is a tool used to determine whether DNA from an individual contains a mutation in genes like BRCA1 or BRCA2 (DNA, 2020).
d. The results of Ann’s Oncotype test showed a decrease in the expression of
BRCA1. How can this decrease lead to an increase in cell division? (Hint: What is the normal role of BRCA1?) BRCA1 is a gene that produces proteins to help repair damaged DNA. BRCA1 regulates mammary cell behavior by numerous mechanisms, including the response to DNA damage previously mentioned (He et al., 2017). If BRCA1 is affected and slowed down, it may be unable to properly regulate things such as cell division, leading to unchecked and increased growth.
3. Both these tests take time and will inform Ann’s treatment plan for the best possible outcome. While she is waiting on results, Ann begins to research the main types of treatments that are available to treat breast (and many other) cancers. One of these is chemotherapy. There are many types of chemotherapy, but in general:
a. How does chemotherapy work?
Chemotherapy targets cells that grow and divide quickly, such as cancer cells. Unlike some other forms of cancer treatment which target specific areas of the body, chemotherapy works throughout the entire body by circulating through one's bloodstream. This is done through drugs that use powerful chemicals to kill the cancerous cells. These drugs can be used alone, or in combination with other forms of cancer treatment (Mayo Foundation, 2020).
b. What are some side effects of chemotherapy?
There are many side effects that can occur, such as hair loss, loss of appetite, general fatigue, fever, general pain, and nausea. Longer lasting side effects can include damage to the tissues of the lungs, heart problems, infertility, kidney problems, and nerve damage (Mayo, 2020).
c. Based on your knowledge of chemotherapy and cell division, why do you
think chemotherapy leads to these side effects? This is because of the way chemotherapy works. Because the drugs target cells that grow and divide rapidly, and not exclusively cancerous cells, healthy cell will also be attacked and damaged (Mayo, 2020). Hair cells, for example, grow incredibly fast, which is why chemotherapy so often leads to hair loss. Beyond this, various organs and other important cells in the body may end up being targeted or damaged, leading to numerous side effects, as listed above.
Part IV Dr. Hernandez calls Ann with the test results a couple weeks later. She is negative for the BRCA1 and BRCA2 mutations, which is good news. But her Oncotype score is borderline high, meaning the cancer is somewhat aggressive, and chemotherapy will decrease the chance that cancer recurs elsewhere in her body and increase her chances of survival long term. The surgeon recommends a medical oncologist to start chemotherapy, who in turn recommends a course of chemotherapy that includes paclitaxel, also known as Taxol.
1. What cell structure does Taxol target?
Microtubules.
2. What are the functions of this structure in the cell?
The microtubules help to maintain cell shape, as well as help with mitosis. They also help with the assembly of mitotic spindle during cell division. (Cooper, 2000).
3. How does the targeting of this structure treat cancer?
Because microtubules are important for cell division, attacking them helps to prevent the rapid growth of cancerous cells.
Part V After four rounds of chemotherapy and a unilateral mastectomy, Ann was exhausted but relieved to be through the worst of treatment. Radiation was not necessary, and the cancerous cells had not spread to any of her lymph nodes. These were all good signs that the cancer was caught early and had not spread. Ann was back to work, and aside from some fatigue, things were slowly getting back to normal (or as normal as they ever would be again). Ann and her partner were to be married in a year. They figured if they could get through this, they could get through anything together. Ann was excited to get on with planning the rest of her life!
1. Why is it a good sign that cancerous cells had not spread to her lymph nodes? Because this would suggest that the cancerous cells had broken away from the original tumor, and begun to spread to other parts of the body. Once cancer cells are in lymph nodes, they may be able to spread to other parts of the body as well (Smith, 2021).
2. What does metastatic mean in cancer diagnosis? Based on the above information, had Ann’s cancer metastasized? Support your answer. Metastasis refers to the spread of cancer to a new part of the body from where it originated (Smith, 2021). Based on the given information, it would appear that Ann's cancer has not metastasized. Because she was informed that the cancer had not spread to her lymph nodes, and that it had not spread in general, we can assume the cancerous area where it originated from was the extent of said cancer. With this having been resolved and no additional traces of cancer having been found, it would appear that her cancer did not metastasize. References
Baba, A.I., Câ toi, C. (2007) Comparative Oncology. Bucharest (RO): The Publishing House of the Romanian Academy; Chapter 3, TUMOR CELL MORPHOLOGY. https://www.ncbi.nlm.nih.gov/books/NBK9553/
Clark, M. A., Jung, C., & Douglas, M. (2018). Biology 2e. Houston: OpenStax.
Cooper, G.M. (2000) The Cell: A Molecular Approach. 2nd edition. Sunderland (MA): Sinauer Associates; Microtubules. https://www.ncbi.nlm.nih.gov/books/NBK9932/
DNA Microarray Technology fact sheet. (2020) Genome.gov. (n.d.).
He Z., Kannan N., Nemirovsky O., Chen H., Connell M., Taylor B., Jiang J., Pilarski L. M., Fleisch M. C., Niederacher D., Pujana M. Angel, Eaves C. J., Maxwell C. A. et al (2017) BRCA1 controls the cell division axis and governs ploidy and phenotype in human mammary cells. Oncotarget. 2017; 8: 32461-32475. https://www.oncotarget.com/article/15688/text/
Mayo Foundation for Medical Education and Research. (2020). Chemotherapy. Mayo Clinic. https://www.mayoclinic.org/testsprocedures/chemotherapy/about/pac-20385033
Smith, A. (2021). Cancer spreading to lymph nodes: What happens and treatment. Medical News Today. https://www.medicalnewstoday.com/articles/what-happens-when- cancer-spreads-to-the-lymph-nodes#what-it-means.
Strauss, J. F., & Barbieri, R. L. (2009). Yen and Jaffe's reproductive endocrinology: Physiology, pathophysiology, and clinical management. Philadelphia, PA: Saunders/Elsevier.
