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HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER

How Genetics Affect the Development of Ovarian Cancer Trey Halsey Bayside High School

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER Abstract

This paper investigates how genetics are related to ovarian cancer. Ovarian cancer is the growth of cancer that begins in the ovaries. This cancer can be linked to heredity by the mutations of genes, genetic conditions, and syndromes. The most common genetic mutation that is linked to ovarian cancer is the mutation of BRCA1 and BRCA2 (Zikan, n.d.). Two syndromes associated with hereditary ovarian cancer are Nevoid Basal Cell Carcinoma Syndrome (Evans, 2002) and Lynch Syndrome (Hereditary Nonpolyposis Colon Cancer, 2011.) Another factor that increases the risk of developing ovarian cancer is how many first-degree relatives have had the disease. If a womans first-degree relative develops ovarian cancer, her risk increases threefold (The Genetics of Ovarian Cancer, 2012). It is important for the genetics of ovarian cancer to be investigated by medical professionals since this type of cancer is the fifth leading cause of death among women (The Genetics of Ovarian Cancer, 2012). Keywords: ovarian cancer, genetics, hereditary, mutation, cell, family, risk, causes

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER How Genetics Affect the Development of Ovarian Cancer If a patient has a family history of ovarian cancer, then her own risk of developing the disease can be doubled, or even tripled (The Genetics of Ovarian Cancer, 2012). This is an example of how genetics affect the risk of developing ovarian cancer. The risk of developing this disease is heavily increased by certain genetic conditions. Mutations of diseases, genetic

conditions, and syndromes that can be passed down in a family can all lead to an increased risk of developing ovarian cancer. Examining past family members of a patient that have been affiliated with ovarian cancer is one way to predict a patients risk. Because ovarian cancer is the fifth leading cause of death in American women, it is important to for medical professionals to further investigate this cancer so that it may be prevented. According to The Genetics of Ovarian Cancer (2012), The risk of developing ovarian cancer in a womans lifetime is one to seventy-one, but having family members who have histories of ovarian cancer can increase the risk of developing this cancer.

Genetic Mutations, Genetic Conditions, and Syndromes

There are several ways that may increase ones risk of ovarian cancer, including mutations of genes, genetic conditions, and syndromes. The origin of most cancers can be found when a gene or several genes in a cell become mutated, which creates an abnormal protein or no protein at all (The Genetics of Ovarian Cancer, 2012). The mutations cause the cell to multiply uncontrollably. It is often the case that one will be born with a genetic mutation which is responsible for tumor and cancer growth. The two most common genetic mutations that are linked to ovarian cancer are BRCA1 and BRCA2, according to Zikan (n.d.). These two genes

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER are tumor suppressors, but when mutated, the risk of developing a tumor increases. BRCA1

and BRCA2 (2009) reveals that the risk of developing breast and/or ovarian cancer is increased by five times when someone inherits either of these genes, which sets the womans risk of developing breast/ovarian cancer at sixty percent. BRCA1 and BRCA2 are genes associated with increased risk for breast or ovarian cancer. Mutations of BRCA1 are also specifically associated with the development of cervical, uterine, pancreatic, and colon cancer, and mutations of BRCA may increase the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma (BRCA1 and BRCA2, 2009.) Hereditary Nonpolyposis Colon Cancer (HNPCC), also known as Lynch Syndrome or Cancer Family Syndrome, can increase the risk of developing various cancers, such as increasing the risk of developing colorectal cancer by 7082%, the risk of developing endometrial cancer by 60%, and increasing the risk of developing ovarian cancer by 12%. HNPCC is caused by mutations in a mismatched genes, including, MSHZ, MSH2, and PMSI on chromosome 2, MLH1 on chromosome 3, MSH3 on chrosome 5, and PMS2 on chrosome 7. MSH2 and MLH1 are responsible for the majority of the genetic mutations. These mutations are what lead to the development of the aforementioned types of cancers. According to Evans (2002), Nevoid Basal Cell Carcinoma Syndrome, or NBCCS, is another syndrome that increases the risk of developing ovarian cancer. NBCCS causes the development of many basal cell carcinomas, most often for people in their thirties and onward. Cardiac and ovarian cancers can develop in 2-20% of individuals who have NBCCS. NBCCS is inherited in an autosomal dominant manner. A child has a 70-80% chance of inheriting this syndrome from a parent, and a 20-30% chance of developing this mutation as a result of a mutation in an egg or sperm cell. All of these genetic mutations are responsible for increasing the risk of ovarian cancer, and they can be easily passed down from one generation to another.

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER Patient Family History

By examining a patients family history, one can determine how likely it is that a daughter of the patient will also develop ovarian cancer. The function of the two genes BRCA1 and BRCA2 are to oppress the development of tumors. When these genes become mutated, it is more likely for ovarian and breast cancer to develop in a woman. BRCA2 also increases the risk of developing prostate cancer if it is carried by a man, as well as other cancers, such as pancreatic (Zikan, n.d.). According to BRCA1 and BRCA2, (2009) the Ashkenazi Jewish population has been shown to carry mutations in the BRCA1 and BRCA2 genes five times more often than the rest of the general population. Other ethnic and geographic groups of people are also more likely to carry these mutations, including Norwegian, Dutch, and Icelandic groups. There are several criteria that a woman may suit to recommend her to receive a diagnostic test to determine if she carries a mutation of the BRCA1 and BRCA2 genes. According to Petrucelli (1998), a mutation in these genes is suspected if a patient develops early-age-onset (age fifty or below) breast or ovarian cancer, primary family members with breast or ovarian cancer, a population, such as Ashkenazi Jewish, that is known for carrying BRCA1 and BRCA2 genetic mutations, a family member with a known genetic mutation of BRCA1 or BRCA2, any male breast cancer within a family, and ovarian, fallopian tube, or primary peritoneal cancer at any age. According to Easton (1993), the mutations that can lead to the development of ovarian cancer that can be passed through families are most commonly found on the chromosome 17q. A study by Easton showed that almost all of families tested were shown to have linkage data with ovarian cancer on the 17q chromosome. However, other genes that are linked to ovarian cancer also exist.

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER

Importance behind the Research of Ovarian Cancer Because ovarian cancer is the fifth leading cause of death in American women, it is important to for medical professionals to further investigate this cancer so that it may be prevented. According to Facts about Ovarian Cancer (2012), it is the eighth most common cancer in women as well, and the chances from dying of this disease are one in ninety-five. Ovarian cancer is very difficult to diagnose, and because of this, many times it goes undetected until it is in the later stages of its development, when it is more dangerous and fatal. Because of how various syndromes and genetic mutations influence the risk of the development of ovarian cancer, and how these syndromes and mutations are able to be passed on from a parent to an offspring, it is important for scientists to further study this cancer. There are three main types of treatment, surgery, chemotherapy, and radiation therapy (Ovarian Cancer, 2012). Surgery is a method that is often the first tactic during the fight against cancer. A gynecologic oncologist will remove the area that the cancer has afflicted. This typically means that the surgeon will remove the ovaries and the fallopian tubes in a surgical method known as a bilateral salpingooophorectomy. In addition, the surgeon also may perform a hysterectomy to further prevent the spread of the cancer. However, the surgeon also removes lymph nodes, tissue samples, and fluid from the abdomen to determine the extent of the spread of the cancer. Another method to prevent the spread of and also remove the cancer is chemotherapy. It is the use of drugs to kill cancer cells by stopping the growth and dividing of the cells. Chemotherapy is given by a medical oncologist, and a patient usually has a schedule with a number of cycles where the medicine is given to the patient over time. There are three types of chemotherapy: neoadjuvant chemotherapy, which reduces the size of the tumor before a surgery, adjuvant chemotherapy,

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER which destroys the remaining cancer after a surgery and slow the growth of the tumor, or

palliative chemotherapy, which reduces the side effects of tumors. The final type of treatment, radiation therapy, involves the use of x-rays or other high-energy particles that kill cancer cells. A radiation oncologist will apply radiation to a tumor area to kill cancer cells. This method is usually not used to treat ovarian cancer, but it is used to relieve the side effects. All of these methods are not guaranteed to destroy the tumor, so it is important for scientists to further investigate ovarian cancer.

Genetics and Ovarian Cancer

Ovarian cancer can easily be traced through family lineage, which shows how it is passed on through families. Understanding how ovarian cancer is affected by heredity is crucial to predicting the development of a tumor in a patient. Ovarian cancer is very malignant if not detected in its earliest stages, so it is important for doctors to go deeper in the research of this cancer. The BRCA1 and BRCA2 genetic mutations are known to be passed on from generation to generation, and are very likely to cause the development of ovarian cancer. Other syndromes, such as Nevoid Basal Cell Carcinoma Syndrome and Lynch Syndrome are also known to be hereditary and cause ovarian cancer. By examining the past family members of a patient who is suspected to develop ovarian cancer, one can tell how likely it is that she will also develop the disease. Further studies by scientists could be to stop the passing on of the BRCA1 and BRCA2 genes so that the risk of the development of ovarian cancer is significantly lowered. If scientists manage to lower the tendency of ovarian cancer being passed on through families, then females can feel at ease knowing that the risk of developing this cancer is low.

HOW GENETICS AFFECT THE DEVELOPMENT OF OVARIAN CANCER References

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