Ovarian cancer – Diagnostics – Overview of Information and Clinical Research

Ovarian cancer diagnostics often begin when symptoms appear, although the disease can be challenging to detect early because initial signs may resemble common digestive problems. Understanding what diagnostic tests are available, how they work, and when they’re needed is essential for anyone concerned about ovarian cancer or facing a potential diagnosis.

Introduction: Who Should Undergo Diagnostics and When

Ovarian cancer can be difficult to catch in its earliest stages, largely because the symptoms it causes are often subtle or easily mistaken for less serious conditions. Many women experience bloating, feeling full quickly after eating, discomfort in the pelvis, or changes in bowel habits—signs that could point to many different health issues, not just cancer. Because of this, ovarian cancer is frequently diagnosed at a more advanced stage than other cancers, which makes understanding when to seek diagnostic testing particularly important.^[1]

If you notice persistent symptoms such as abdominal bloating or swelling, ongoing pelvic or abdominal discomfort, difficulty eating or loss of appetite, frequent urination, back pain, or unexplained weight loss, it’s advisable to schedule a visit with your healthcare provider. These symptoms becoming a regular part of your daily life—especially if they are new or unusual for you—is a signal that shouldn’t be ignored. The key is paying attention to what is normal for your own body and recognizing when something changes or doesn’t feel right.^[2]^[1]

Women who have certain risk factors may need to be particularly vigilant. These include being over the age of 60, having a family history of ovarian or breast cancer, carrying inherited gene mutations such as BRCA1 or BRCA2 (which are changes in specific genes that increase cancer risk), having Lynch syndrome, a history of endometriosis, or never having been pregnant. People of Ashkenazi Jewish descent are also at higher risk due to a greater likelihood of carrying BRCA mutations. If any of these factors apply to you, discussing screening or monitoring options with your doctor is a wise step, even if you don’t currently have symptoms.^[3]^[9]^[7]

⚠️ Important

Despite years of research, no widely successful screening test for ovarian cancer has been developed yet. This means the disease often progresses before it is detected, making it all the more important to report any persistent or worrying symptoms to your healthcare provider as soon as possible.

Classic Diagnostic Methods Used to Identify Ovarian Cancer

When a healthcare provider suspects ovarian cancer based on your symptoms or risk factors, they will typically begin with a thorough conversation about your medical history and a physical examination. This initial assessment is essential for gathering clues about what might be happening inside your body and helps the provider determine what further tests might be necessary.^[8]

Pelvic Examination

A pelvic exam is often one of the first steps in evaluating a potential ovarian cancer case. During this exam, the doctor inserts one or two gloved fingers into the vagina while pressing down on the abdomen with the other hand. This allows them to feel the pelvic organs—including the ovaries, uterus, and nearby structures—to check for any abnormal growths, enlargement, or unusual texture. The doctor also visually examines the external genitalia, vagina, and cervix. While a pelvic exam cannot definitively diagnose ovarian cancer, it can reveal signs that warrant further investigation.^[8]^[3]

Imaging Tests

If abnormalities are suspected during the pelvic exam, imaging tests are typically the next step. These tests create detailed pictures of the inside of your body and help doctors see the size, shape, and structure of your ovaries and surrounding organs.^[8]

Pelvic ultrasound is commonly used and works by sending sound waves through the body to create images. A transvaginal ultrasound, where a small device is inserted into the vagina, often provides clearer images of the ovaries than an abdominal ultrasound. This test is non-invasive and doesn’t use radiation, making it a safe initial imaging choice.^[3]

Other imaging technologies may also be recommended. A CT scan (computed tomography) uses X-rays to create cross-sectional images of the abdomen and pelvis. An MRI (magnetic resonance imaging) uses magnets and radio waves to produce detailed images of soft tissues. A PET scan (positron emission tomography) can help detect cancer that has spread to other areas of the body by highlighting areas with high metabolic activity, which is common in cancer cells.^[3]^[9]

Blood Tests

Blood tests are another important tool in the diagnostic process. One of the most commonly used is the CA-125 test, which measures the level of a protein called cancer antigen 125 in the blood. Many women with ovarian cancer have elevated CA-125 levels. However, this test is not perfect. CA-125 levels can be normal even when cancer is present, and they can be elevated in conditions that are not cancer, such as endometriosis, uterine fibroids, or even during menstruation. Because of these limitations, doctors use the CA-125 test in combination with other tests, not as a standalone diagnostic tool.^[8]^[3]^[9]

Surgical Evaluation and Biopsy

Often, the only way to definitively confirm whether ovarian cancer is present is through surgery. During a surgical procedure, doctors can directly observe the ovaries and surrounding tissue and remove any abnormal growths for examination. A biopsy—where a sample of tissue is taken and examined under a microscope—is typically performed during this surgery. If cancer is found, the surgeon may remove the tumor during the same procedure.^[3]^[9]

In some cases, a laparoscopy may be performed. This is a minimally invasive surgical procedure in which a thin tube with a camera is inserted through small incisions in the abdomen. The camera allows doctors to see the ovaries and other organs and take tissue samples if needed. Laparoscopy can help determine whether cancer is present and how far it may have spread.^[3]

Genetic Testing

Your doctor may recommend genetic testing to look for inherited changes in your DNA that increase the risk of ovarian cancer. The most well-known of these are mutations in the BRCA1 and BRCA2 genes, which significantly raise the risk of both breast and ovarian cancer. Knowing whether you carry these mutations can influence your treatment plan and also provide important information for your close relatives, who may share the same genetic risk.^[8]^[7]

Diagnostics for Clinical Trial Qualification

When patients are being considered for enrollment in clinical trials—research studies that test new treatments—specific diagnostic tests are often required to ensure that participants meet the study’s criteria. These tests help researchers confirm the type, stage, and characteristics of the cancer, which is essential for matching patients with the most appropriate experimental therapies.^[6]

Standard diagnostic procedures used for clinical trial qualification often include the same tests used in routine diagnosis: imaging tests such as CT scans, MRI, or PET scans to assess the size and spread of tumors; blood tests including CA-125 levels; and tissue biopsies to examine cancer cells directly. However, clinical trials may also require additional testing to determine specific features of the cancer.^[6]

For instance, biomarker testing is increasingly important in clinical trials. Biomarkers are biological molecules found in blood, tissue, or other body fluids that can indicate the presence of cancer or provide information about how the cancer behaves. One example is testing for mutations in the BRCA1 or BRCA2 genes, which can make patients eligible for certain targeted therapies. Another example is testing for markers related to DNA repair mechanisms, such as microsatellite instability (MSI) or mismatch repair deficiency (dMMR), which may make patients eligible for immunotherapy treatments.^[14]

Genetic and molecular testing of tumor tissue—sometimes called tumor profiling—can also be required. This involves analyzing the cancer cells to identify specific genetic changes or protein expressions that might make the tumor more or less likely to respond to a particular treatment being studied in the trial. These tests help ensure that only patients who are most likely to benefit from the experimental treatment are enrolled, which improves the chances of the trial’s success.^[6]

⚠️ Important

Participating in a clinical trial may involve additional diagnostic tests beyond those used in standard care. Your healthcare team will explain which tests are required, why they are needed, and what the results mean for your eligibility. Clinical trials offer access to cutting-edge treatments that may not yet be widely available, so understanding the diagnostic requirements is an important part of the decision-making process.

In some cases, patients may also need to undergo tests to assess their overall health and organ function before joining a clinical trial. This can include blood tests to check liver and kidney function, heart tests like an electrocardiogram, or lung function tests. These are done to ensure that the patient is healthy enough to tolerate the experimental treatment and to reduce the risk of serious side effects during the trial.^[6]

Qualifying for a clinical trial is a careful process that involves collaboration between the patient, their regular healthcare team, and the researchers conducting the trial. If you are interested in exploring clinical trial options, your doctor can help determine whether your cancer profile and overall health make you a good candidate, and which trials might be worth considering.^[7]

Prognosis and Survival Rate

Prognosis

The outlook for someone diagnosed with ovarian cancer depends on many factors, including the stage and grade of the cancer at the time of diagnosis, the type of ovarian cancer, the patient’s age, overall health, and how well the cancer responds to treatment. Ovarian cancer is often diagnosed at an advanced stage because early symptoms are subtle or easily mistaken for other conditions. When detected early—before it has spread beyond the ovaries—ovarian cancer is more treatable. However, the majority of cases are not found until the cancer has spread to other parts of the abdomen or beyond, which makes treatment more challenging.^[6]

Treatment typically involves a combination of surgery and chemotherapy. For many patients, especially those diagnosed at an advanced stage, the cancer may respond well to initial treatment and go into remission. Unfortunately, recurrence is common, occurring in more than 80% of patients with advanced ovarian cancer. When the cancer returns, it may be more difficult to treat, and treatment aims shift toward controlling the disease, relieving symptoms, and maintaining quality of life for as long as possible.^[20]^[6]

Certain genetic factors can influence prognosis. For example, patients with BRCA1 or BRCA2 gene mutations may respond differently to treatments, and some targeted therapies are specifically designed for patients with these mutations. Understanding your cancer’s specific characteristics, including any genetic mutations, helps doctors tailor treatment plans and provide more accurate estimates of how the disease may progress.^[7]

Survival Rate

Survival rates for ovarian cancer vary widely depending on the stage at diagnosis. When ovarian cancer is found early and confined to the ovaries, treatment outcomes are significantly better. However, because many cases are diagnosed at a later stage, overall survival rates are lower than for some other cancers. It’s important to remember that survival statistics are based on large groups of people and may not reflect your individual situation. Your doctor is the best person to discuss your personal prognosis based on your specific circumstances.^[6]

According to available data, ovarian cancer is the leading cause of death among gynecologic cancers in the United States and the second most common gynecologic malignancy. Worldwide, it ranks as the third most common gynecologic cancer. In the United States, the lifetime risk of developing ovarian cancer is approximately 1 in 78.^[6]^[9]

For many patients, survival beyond five years is possible, especially with advances in treatment options such as targeted therapies and maintenance treatments that aim to delay recurrence. However, more than 50% of patients with recurrent disease may face a less favorable prognosis. The five-year survival rate varies greatly depending on whether the cancer is localized, has spread regionally, or has metastasized to distant organs. Early detection and comprehensive treatment are key factors in improving survival outcomes.^[6]