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Ovarian Cancer and Genetics: Understanding the connection
By Raveena M Prakash
Introduction
Being diagnosed with ovarian cancer can be a huge shock. It may trigger sudden emotional moments, sudden outbursts of emotions, and a deep sense of fear and uncertainty about life, leaving you with many questions like, Why me? But don’t worry: We’ve got you back!
Many women wonder how they developed cancer or tumors. Ovarian cancer is one of the most common types of cancer in females, and it's the 8th most frequently diagnosed cancer in women! If you or a loved one in your family has been diagnosed with ovarian cancer, and you are concerned about whether genetics may play a role in developing the risk of getting ovarian cancer in you. Then read on!
In this article, we’ll explore the connection of cancer and genetics, risk factors, symptoms, causes, and much more!
What is Ovarian Cancer?
Ovarian cancer is a growth of cancer cells that forms in the ovaries. The cells multiply quickly and start to capture or invade, and additionally these cells destroy the healthy cell tissues. Ovaries are part of the female reproductive system. Ovaries are two round, walnut-sized organs that produce eggs during the reproductive period of females' lives.
What are the causes of ovarian cancer?
The exact cause of cancer remains unknown, but there are some risk factors that increase the chance of developing cancer.
Here are some risk factors:
- Family history of cancer
- Inherited gene mutation
- Lynch syndrome
- Never being pregnant or having children later in life
- Obesity or overweight
- Endometriosis
When cancer spreads in a patient, it usually spreads from their pelvis to the lymph nodes, abdomen, intestines, stomach, liver, and chest.
Symptoms of Ovarian cancer
This cancer might develop and spread throughout your abdomen before it shows any specific signs of symptoms and causes. This makes it difficult to diagnose early in patients.
These may include:
- Abdominal or pelvic pain
- Bloating or swelling
- Discomfort in the pelvic area
- Fatigue
- Back pain
- Changes in bowel habits such as diarrhea and constipation
- Feeling full quickly
- A frequent need to urinate
- Vaginal bleeding
- An increase in the size of the abdomen
When the cancer first develops, it might not develop any noticeable symptoms. When cancers happen, they are usually associated with other common conditions.
Diagnosis and Treatments
If you are experiencing any symptoms of ovarian tumor or cancer, such as abdominal pain, fatigue, or vaginal bleeding, then your doctor might suggest some tests and scanning procedures to confirm any cysts, tumors, and other changes in your ovaries.
These may include:
Pelvic exam:
In this cancer screening test, your doctor might check your abdomen for any lump formation; while performing a pelvic exam, they will check whether the patient has any abnormal growth or enlarged organs in their abdominal area.
Imaging tests:
- Pelvic ultrasound
- MRI
- CT SCAN
- PET SCAN
Blood tests: The blood tests for diagnosing cancer check the function of organs that help to further determine your overall health. The blood tests will check for the presence of the substance known as CA-125. The high levels of CA125 in the blood indicate the signs of cancer. The cancer antigen test, also known as the CA125 test, detects a protein that is often found on the surface of cancer cells.
However, CA 125 levels can be normal, even when the cancer is present, and in some cases the higher levels are due to conditions that aren’t cancer.
- Surgery: Sometimes the doctor can’t be certain about your cancer until they perform a surgery. To diagnose the presence of cancer or a tumor in your ovaries, they’ll perform surgery.
If you have symptoms of this cancer, then doctors often perform surgery; if they find any abnormal growths, they might remove the tumor or the ovary during the same procedure.
Laparoscopic surgery
The surgeon places a thin camera, which is also known as a laparoscope, through a small cut (incision) that is made in your abdomen. Using the laparoscope as a guide, along with other additional equipment to hold instruments, the surgeon normally assesses the cancer and also performs some staging biopsies to remove ovarian tumors.
Chemotherapy
Your oncologists might recommend chemotherapy either before the surgery or sometimes after the surgery, depending upon the patient’s medical conditions. The chemo procedure is used to destroy cancerous cells. Chemotherapy might be given to the patients intravenously through a vein or orally as a pill form.
Targeted therapy
Targeted therapy is a cancer treatment where they use certain drugs to target and destroy cancer cells. Targeted therapy changes the way cancer cells grow and divide in the body.
Hormone therapy
In some cases, ovarian cancer uses hormones to grow. In hormone therapy, this aims to block hormones, which slow down and stop the growth of cancer.
Radiation therapy
Radiation therapy for ovarian cancer is not always the primary treatment. Doctors rarely use radiation therapy for ovarian cancer to treat advanced or recurrent cancer or control cancer in patients. Sometimes, radiation therapy is used with a combination of other cancer treatments such as chemotherapy and targeted therapy.
Stages of Ovarian cancer
There are four stages in ovarian tumors. In the cancer staging of ovarian cancer, the early stage or lowest number is the least severe cancer; this can be treated easily, while the higher number is the serious stage of cancer.
Understanding the connection of Ovarian Cancer and Genetics
Women who have a family history of ovarian or breast cancer are at high risk of being diagnosed with cancer in their ovaries, fallopian tubes, or peritoneal cavity. This condition is often linked with the mutation of the genes BRCA 1 and BRCA 2, which are involved in the regulation of cell growth and replication of cells in these areas.
According to American society, studies suggest that approximately 10-15% of ovarian cancer patients are considered to have an inherited genetic mutation. The remaining cases of cancer are mostly connected to a genetic mutation. However, this represents a small percentage of cancer patients who are considered the high-risk group for ovarian tumors or cancer.
Important genes associated with Ovarian Cancer
BRCA1 and BRCA2 are the two genes associated with increasing the risk of developing both breast and ovarian tumours in the body. Everybody has these two genes in their body, and these two genes play a huge role in the regulation of cell growth in both ovaries and breasts.
A gene mutation in one or both of these two genes might increase the chance of an individual getting affected by ovarian and breast cancer. Women with a gene mutation in the BRCA2 gene have a lifetime risk of getting ovarian and breast cancer, which is around a 10-20% chance of developing ovarian tumor or cancer. This is approximately ten times higher than the risk of an average cancer diagnosis in women, which is 1 to 2%.
Other gene variants:
- BRIP 1: The gene mutation of BRIP 1 genes is associated with a 6% chance of developing ovarian cancer.
- RAD51C and RAD51 D: These genes are associated with a 10% chance of developing ovarian cancer. These genes also increase the chance of developing breast cancer.
- PALB2: This gene causes a 5% chance of developing cancer, also increasing the chance of breast and pancreatic cancer.
- MLH1, MLH2, MSH6, and PMS2: These mismatch DNA pair genes cause Lynch syndrome, also known as hereditary nonpolyposis cancer syndrome (HNPCC). These gene variants cause up to a 15% risk of developing ovarian cancer. These gene variants will also increase the risk of uterine, bowel, and other cancers.
Genetic conditions associated with Ovarian Cancer
There are several genetic conditions that are associated with the risk of developing cancer.
These may include:
- Lynch syndrome: This is also known as hereditary nonpolyposis colorectal cancer (HNPCC). This is an inherited genetic disorder that increases the chance of developing ovarian tumors and cancer in addition to colorectal, endometrial, and other types of cancer.
- Peutz-Jeghers syndrome (PJS): This is also an inherited genetic disorder that causes the development of cancer in the ovaries, along with breast, colorectal, and other types of cancer.
- Nevoid basal cell carcinoma syndrome (NBCCS): This is a rare type of disorder also known as Gorlin syndrome or basal cell nevus syndrome. This disorder is often caused by the mutation of the PTCH1 gene.
- Li-fraumeni and Ataxia-Telangiectasia: This disorder is also associated with an increased risk of ovarian tumor or cancer.
Somatic genetic testing (tumor testing)
Somatic testing is used to determine the DNA of the cancer cells to identify any genetic changes that have occurred during the development of cancer. This test influences other treatment options such as PRP inhibitors or immunotherapy.
How to reduce your risk
There are no effective screening tests for ovarian tumours or cancer, but there are several options to reduce your risk of getting cancer. Here are some of the options to consider.
These may include:
- Regular screening for cancer or monitoring your symptoms
- Risk-reducing medication
- Consider risk-reducing surgery.
- Lifestyle modifications
Conclusion
Understanding the genetic connection of ovarian cancer is essential to early detection, personalized consultation for your medical conditions, and prevention measures. If you have a family history of cancer, genetic testing can provide information that can help you with avoiding risk factors and taking proactive steps towards your health.
If you are looking for specialist guidance on your genetic assessment , screening, or advanced cancer treatment, trust Oncare Cancer Center.
Call us now and get your personalized care with Oncare Cancer Center. Don't forget to take control of your health and stay ahead of ovarian cancer.
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Frequently Asked Questions (FAQs)
The most significant genes associated with ovarian cancers are BRCA1 and BRCA2, especially in hereditary ovarian cancer. The other genes connected with ovarian cancers are TP53, PIK3CA, and PALB2, and some other genes involved in DNA mismatch repair are MLH1, MSH2, and MSH6.
Laparoscopic surgery, also known as a minimally invasive procedure, is a surgical procedure used to remove cancer or a tumor in the ovaries. The surgeon uses a tool called a laparoscope, which is a thin, telescopic rod with a camera. The surgeon will put the laparoscope through a small cut or incision in your abdomen, which might be half an inch or less.
The blood tests will check for the presence of the substance known as CA-125. The high levels of CA125 in the blood indicate the signs of cancer. The cancer antigen test, also known as the CA125 test, detects a protein that is often found on the surface of cancer cells.
However, CA 125 levels can be normal, even when the cancer is present, and in some cases the higher levels are due to conditions that aren’t cancer.
The symptoms of ovarian cancer may include:
- Abdominal or pelvic pain
- Bloating or swelling
- Discomfort in the pelvic area
- Fatigue
- Back pain
- Changes in bowel habits such as diarrhea and constipation
- Feeling full quickly
- A frequent need to urinate
- Vaginal bleeding
- An increase in the size of the abdomen