How to Test for Cancer: From Blood Tests to Biopsy

Cancer is detected through a combination of screening tests, imaging, and tissue sampling, with the specific approach depending on the type of cancer suspected and whether you have symptoms. For people without symptoms, routine screening catches cancers early, when they’re most treatable. For people with a suspicious lump, unexplained weight loss, or other warning signs, doctors use imaging and biopsies to confirm or rule out a diagnosis.

Routine Screening by Cancer Type

Screening tests look for cancer before you have any symptoms. The recommended tests, starting ages, and frequencies vary by cancer type.

Breast cancer: Mammograms every two years for women aged 40 to 74. About 10% of mammograms lead to a callback for additional testing, but only about 7% of those callbacks result in a cancer diagnosis. Over a decade of annual screening, more than half of women will experience at least one false positive result. That’s worth knowing so a callback doesn’t cause unnecessary panic.

Colorectal cancer: Screening for most people begins soon after turning 45 and continues through age 75. You have several options. A colonoscopy is done every 10 years for average-risk adults. A stool-based test that checks for hidden blood (called FIT) is done yearly. A stool DNA test that combines blood detection with genetic markers is done every three years. Flexible sigmoidoscopy is done every five years, and CT colonography (virtual colonoscopy) every five years. If any of the non-colonoscopy tests come back positive, you’ll still need a colonoscopy to complete the process.

Cervical cancer: Women aged 21 to 29 are screened every three years with a Pap smear. From 30 to 65, you can continue Pap smears every three years, switch to HPV testing alone every five years, or do both tests together every five years.

Lung cancer: Annual low-dose CT scans are recommended for adults aged 50 to 80 who have a 20 pack-year smoking history and either currently smoke or quit within the past 15 years. A pack-year means smoking one pack a day for one year, so 20 pack-years could be one pack a day for 20 years or two packs a day for 10.

Imaging Tests That Locate Tumors

When screening flags something abnormal, or when symptoms point toward cancer, imaging helps doctors see what’s happening inside your body. Different tools are better suited for different situations.

CT scans build a three-dimensional picture of your body by combining X-ray images taken from many angles, like slicing a loaf of bread and examining each slice. They show whether a tumor is present and roughly how deep it sits in the body. CT is commonly used for cancers in the chest, abdomen, and pelvis.

MRI also produces three-dimensional images but is sometimes more sensitive than CT for distinguishing soft tissues from one another. It’s particularly useful for brain tumors, spinal cord involvement, and certain breast and liver abnormalities.

PET scans work differently. You receive an injection of a mildly radioactive sugar, and because cancer cells absorb sugar more aggressively than normal tissue, they light up on the scan. PET is especially good at evaluating whether cancer has spread or come back after treatment, and it’s increasingly used to check whether a treatment is working by seeing if tumor cells are consuming less sugar over time. One limitation: PET is less accurate for tumors smaller than about 8 millimeters (roughly the size of a pinky nail) or for slow-growing cancers.

Ultrasound uses sound waves to create images and involves no radiation. It can reveal tumors in organs like the thyroid, liver, and ovaries, and it’s frequently used to guide a needle during a biopsy so the doctor can see exactly where the needle is going.

Biopsy: The Definitive Test

Imaging can show that something suspicious exists, but a biopsy is what actually confirms cancer. It involves removing a sample of tissue or cells so a pathologist can examine them under a microscope.

The least invasive option is a fine-needle aspiration, where a thin needle is inserted into a suspicious area and a syringe draws out fluid and cells. This is common for lumps in the thyroid or breast that are easy to reach. A core needle biopsy uses a slightly larger needle with a cutting tip to pull out a small column of tissue, which gives the pathologist more material to work with and a better picture of the tumor’s structure.

When a needle biopsy isn’t sufficient or the area is hard to reach, a surgical biopsy may be needed. A surgeon makes an incision to access the suspicious area and removes either part of the growth or the entire thing. This is more involved but sometimes necessary for an accurate diagnosis.

Endoscopic Procedures

For cancers inside hollow organs or body cavities, doctors use an endoscope, a thin, flexible tube with a camera and light on the end. A colonoscopy is the most well-known example, but several others exist. A bronchoscopy examines the airways and lungs. A cystoscopy looks inside the bladder and urethra. A laparoscopy allows doctors to view the abdominal or pelvic cavity through small incisions. During any of these, the doctor can take tissue samples for biopsy at the same time.

Blood Tests and Tumor Markers

Blood tests alone rarely diagnose cancer, but they play a supporting role. Tumor markers are proteins or other substances that some cancers release into the bloodstream. A few of the most commonly used ones:

  • PSA is associated with prostate cancer.
  • CA-125 is used to monitor ovarian cancer.
  • CEA is linked to colorectal cancer and some other types.
  • CA19-9 is associated with pancreatic, gallbladder, and bile duct cancers.
  • AFP is used for liver cancer and certain germ cell tumors.

The key word here is “monitor.” Most tumor markers are more useful for tracking how a known cancer responds to treatment or watching for recurrence than for catching cancer in the first place. Many of these proteins can be elevated for non-cancerous reasons, which limits their value as standalone screening tools.

Liquid Biopsy: A Newer Approach

Liquid biopsy is a blood test that looks for tiny fragments of DNA shed by tumors into the bloodstream. Right now, these tests are only used clinically in a handful of situations, mostly to help determine whether a patient with a known cancer is a candidate for a specific targeted therapy.

The technology faces real biological hurdles. Tumors, especially small ones, release very little DNA into circulation. Whatever DNA does escape is massively outnumbered by fragments from the billions of healthy cells that naturally die each day, creating a needle-in-a-haystack problem. On top of that, tumor DNA fragments are often cleared from the bloodstream within 30 minutes. The amount of detectable tumor DNA also varies depending on where the tumor is located, how large it is, and the blood vessel structure around it. These limitations mean liquid biopsy isn’t yet reliable enough for broad early detection.

Genetic Testing for Inherited Risk

Some cancers run in families because of inherited gene mutations. Genetic testing can identify whether you carry one of these mutations, which helps you and your doctor decide on more aggressive screening or preventive measures.

Clinical guidelines recommend genetic testing for anyone diagnosed with triple-negative breast cancer, ovarian cancer, pancreatic cancer, colorectal cancer before age 50, metastatic prostate cancer, or male breast cancer. Beyond a personal diagnosis, your family history may also warrant testing if you have several first-degree relatives (parents, siblings, children) with the same cancer type, family members with both breast and ovarian cancer, family members with both colon and endometrial cancer, cancer that appeared at an unusually young age, or cancer in both paired organs (both breasts, both kidneys).

Genetic testing itself is straightforward. It typically requires only a blood or saliva sample. What’s complex is interpreting the results, since a positive result means elevated risk, not certainty, and a negative result doesn’t guarantee you won’t develop cancer.

What Happens After a Diagnosis

If a biopsy confirms cancer, the pathologist examines the cells more closely to determine two things: grade and stage. These are different measurements that together shape your treatment plan.

Tumor grade describes how abnormal the cells look under a microscope. Cells that still resemble normal tissue are called well-differentiated, tend to grow slowly, and are generally less aggressive. Cells that look very abnormal are called poorly differentiated, typically grow faster, and are more likely to spread. The pathologist assigns a numerical grade based on these features.

Stage, by contrast, describes how large the tumor is and whether the cancer has spread beyond its original location to nearby lymph nodes or distant organs. Staging usually requires the imaging tests described above, sometimes combined with additional biopsies. Together, grade and stage give the clearest picture of how a cancer is likely to behave and what treatment approach makes the most sense.