Everything You Should Know About Breast Cancer Diagnosis

Patient and technician during a mammogram

A breast cancer diagnosis typically requires a series of specific medical tests and imaging appointments. Several factors are considered to confirm the diagnosis or rule out cancer entirely, which may feel overwhelming for patients who are new to these types of procedures. Remember, although it is understandable to be nervous, try not to panic. Many abnormal findings in breast imaging turn out to be benign. This guide will explain the imaging and other testing methods involved in diagnosing breast cancer, as well as what risk factors to be aware of.

For those looking to take proactive control of their breast health, PocketHealth can help. With secure, easy access to your breast imaging records, PocketHealth allows you to better understand your breast health by offering personalized estimated breast cancer risk scores. This enables you and your doctor to make informed decisions about preventive measures and future screenings.

What is breast cancer?

Breast cancer occurs when cancerous cells in the chest area grow uncontrollably, forming tumors that may spread to other areas, such as lymph nodes or other parts of the body. Most cases of breast cancer affect patients assigned female at birth (AFAB), though, in rare instances, patients assigned male at birth (AMAB) can also be affected. The disease is most common in patients aged 50 or older, though it can develop in younger individuals as well. In the U.S., the likelihood of developing breast cancer is about 1 in 8 for AFAB patients. Fortunately, mortality rates have dropped to 2.5%, with ongoing studies and treatments aimed at further reducing this rate.

What are the symptoms of breast cancer?

In the early stages, breast cancer may not cause noticeable symptoms, which is why routine screenings, such as mammograms, are important. The earlier cancer is detected, the more effective treatment can be.

For cases that do cause symptoms, they may include:

A breast lump or mass: These are typically hard and movable at first. However, breast lumps are common and often have benign causes, so try not to worry. If you find a lump, you may want to inform your doctor so that testing can be done.
Breast changes: This can include changes in shape, contour or size.
Thickening or lumps: These may appear around the breast or in the armpit area.
Skin changes: Symptoms could include puckering, dimpling, inflammation or darkening of the breast or nipple.
Nipple discharge: Fluid coming from the nipple may also be a sign of breast cancer.

Types of breast cancer

There are multiple types of breast cancer, which may affect treatment plans and methods:

In situ breast cancer: In situ refers to pre-cancer found within a milk duct that hasn’t spread to other breast tissue. Also called ductal carcinoma or stage 0 cancer, it is non-invasive and has a very high cure rate.
Invasive breast cancer: This type refers to cancerous cells that initially lined the milk duct but have spread to the actual breast tissue. It is the most common type of breast cancer in the U.S.
Lobular breast cancer: This cancer begins in the lobules (glands that produce milk) of the breast. It can spread, similar to invasive breast cancer, though it is less common.
Triple-negative breast cancer: This type is more aggressive, often multiplying faster than other types. Black patients, those under 40 and those with a BRCA1 gene mutation are more prone to it. Fortunately, it makes up only about 10 to 15% of breast cancer cases.
Paget’s disease: This rare form of breast cancer spreads from the milk ducts to the skin of the areola and nipple. It can sometimes appear as a rash.
Inflammatory breast cancer: Also rare, this invasive cancer blocks the skin’s lymph vessels, causing an inflamed appearance.
Angiosarcoma: This cancer type begins in cells that line the lymph or blood vessels and can spread from there. It is very rare.
Phyllodes tumor: These rare tumors form in the breast’s connective tissue. While some can be malignant, most are benign.

Hormones and breast cancer

In addition to the main types of breast cancer, there are subtypes that further influence treatment methods. The way the cancer responds to specific hormones, such as progesterone and estrogen, helps categorize these conditions. Hormone receptors found on cancer cells capture hormones from the patient, using them as a fuel source that allows the cancer to grow and spread. Pathology of the cancer will indicate which hormone, if any, it is reacting to. Here are some categories of cancers based on their receptor cell type:

Progesterone receptor positive (PR positive): This means the cancer has receptors for progesterone hormones. This growth can be treated with endocrine (hormone) therapy, which helps inhibit spreading.
Estrogen receptor positive (ER positive): The cancer reacts to the estrogen hormone and is likewise treated with endocrine therapy.
Hormone receptor negative: This type of cancer doesn’t have hormone receptors, so it doesn’t react to hormone therapy. Note that sometimes PR and ER positive cancers are referred to as hormone receptor positive, as a blanket term.
HER2 positive: This refers to the presence of a protein called human epithelial growth factor receptor 2, or HER2. This protein is normally produced by healthy breast cells, but breast cancer cells can produce it in larger quantities. Treatments that target these specific cells are a primary approach.
HER2 low: This category describes when only some of the cancer cells produce the HER2 protein or produce it in small amounts. Targeted therapy can still be beneficial in these cases.
HER2 negative: This is when cancer cells don’t produce extra HER2 protein and, therefore, won’t be affected by this specific therapy.

How is breast cancer diagnosed?

A mammogram scan

Here is a brief overview of how breast cancer diagnosis takes place.

Breast exams

Though not an actual diagnosis, breast changes are a starting point if the patient either finds a lump or abnormality themselves or if it is detected during a breast exam at the doctor’s office. Most breast lumps turn out to be benign, but doctors typically recommend additional testing to confirm.

Mammogram

One of the most common methods for detecting breast cancer is through a screening or diagnostic mammogram. These are X-rays that use low-dose radiation to capture internal images for analysis. During the scan, the breasts are compressed between two plates to provide clearer views. Traditional mammograms take two flat images per breast, while 3D mammograms (also called digital breast tomosynthesis) capture multiple images from various angles, offering more detail. Typically, 2D mammograms are used for standard screenings, while 3D mammograms are recommended for patients with higher risk factors or specific needs that require more detailed imaging.

Other breast imaging

When additional or more thorough imaging is needed, there are other methods to assess breast health:

Breast ultrasound: Breast ultrasounds use sound waves and echoes that bounce off internal structures to create images. These are especially useful for distinguishing between fluid-filled cysts (which are usually benign) and tumors or solid masses. They are also effective for imaging dense breast tissue, which can be more difficult for mammograms to evaluate.
Breast MRI: Breast MRIs use radio waves and magnets to create images. These images are further enhanced when contrast dye is used, providing greater detail. MRIs are more commonly used when greater visibility is needed, such as in cases of dense breast tissue or obstructing breast implants.

Biopsy

A biopsy is the definitive diagnostic test for breast cancer. While medical imaging can detect abnormalities, lumps and growths, a biopsy is the method used to determine if these cells are cancerous. While being told you need a breast biopsy can be stressful, it’s important to remember that most biopsies end up being benign.

During the procedure, a doctor uses a long, thin needle to collect a tissue sample from the breast for analysis. There are different biopsy methods, depending on factors such as the size of the sample needed and other considerations. Some biopsies are even guided by MRI or ultrasound to target the suspicious area more accurately.

What is a BI-RADS score?

Mammogram showing BI-RADS level two which is a benign finding

Breast imaging results are often indicated by a BI-RADS score, short for Breast Imaging Reporting and Data System. The scale ranges from 0 to 6, with each score providing a different level of indication:

0 (incomplete): This usually means additional imaging is needed, often due to unclear images or poor visual detail.
1 (negative): No abnormalities were found, and both breasts appear symmetrical.
2 (benign finding): A non-cancerous finding was discovered, such as a cyst or calcification.
3 (probably benign finding): This indicates the abnormality has a less than 2% chance of being cancer. Repeat imaging is usually done within 6 to 12 months to monitor it.
4 (suspicious abnormality): There is a chance the finding is cancerous, but it does not look definitively like cancer. Additional testing and a biopsy are often recommended.
5 (highly likely to be cancerous): There is a 95% chance or more that the finding is cancerous. Additional testing and a biopsy are recommended.
6 (proven malignancy): This is typically for patients who already have a breast cancer diagnosis. It helps track the spread of the disease or assess treatment effectiveness.

What are the stages of breast cancer?

Breast cancer staging is helpful for prognosis and treatment decisions. The staging depends on tumor location and size, if it has spread and the type of cancer it is. Here are the stages:

Stage 0

It hasn’t spread from the patient’s breast ducts to other breast tissue so it is considered noninvasive. It is the easiest stage to treat.

Stage 1

Cancer cells have spread to adjacent breast tissue:

Stage 1A means the affected area is 2cm or less and hasn’t spread.
Stage 1B means the breasts don’t show cancer but a very small amount of cancer is in the lymph nodes in the armpit.

Stage 2

A tumor or tumors have formed from the cancerous cells:

Stage 2A: No cancer is detected in the breast but is discovered in 1 to 3 lymph nodes. It can also mean there is detectable cancer in the breast, but it’s 2cm or less but also found in 1 to 3 lymph nodes. Another variation of stage 2A is that the breast cancer is over 2cm but not found in the underarm lymph nodes.
Stage 2B: Cancer located in the breast is over 2cm but less than 5cm. It is also found in 1 to 3 nearby lymph nodes. Another possibility of this stage is that the breast cancer is bigger than 5cm but the lymph nodes don’t show any cancer cells.

Stage 3 (locally advanced breast cancer)

Some possibilities for stage 3:

Stage 3A: No breast cancer detected within the breast but it is seen in 4 to 9 lymph nodes near the breastbone or armpit. This stage can also mean there is cancer in the breast that is 5 cm or less and is also found in 4 to 9 lymph nodes. Lastly for this stage, it could be that the breast cancer is over 5cm but only found in 3 or fewer lymph nodes.
Stage 3B: Breast cancer can be any size and has grown to affect the skin of the chest wall or breast. It’s also detected in 9 or less lymph nodes.
Stage 3C: Breast cancer can be any size and may have grown to affect the skin of the chest wall or breast. It’s also detected in at least 10 lymph nodes near the breastbone or chest wall or spread to lymph nodes at or below the collarbone.

Stage 4 (secondary breast cancer)

Stage 4 can mean:

Lymph nodes might or might not have cancer cells
Tumor does not have size requirements
The cancer has metastasized (spread) to additional areas of the body, such as lungs, bones etc.

Grades of breast cancer

The breast cancer grading system is different from the staging system. It indicates how quickly cancer cells are growing and how much they differ from normal tissue cells. While grading doesn’t determine a patient’s treatment plan on its own, it plays a significant role in deciding the next steps:

Grade 1: Slow-growing and looks similar to regular breast cells.
Grade 2: Grows faster than grade 1 and looks less like regular breast cells.
Grade 3: Often fast-growing and doesn’t resemble regular breast cells.

It’s important to remember that the grade alone isn’t an indication of cancer severity. For example, a patient can have stage 1 breast cancer that is classified as grade 3. Grading is simply a measure of how quickly the cancer is progressing, which may influence the timing of the treatment plan. The grade doesn’t necessarily affect prognosis.

How is breast cancer treated?

There are a variety of treatments for breast cancer, including:

Hormone therapy: This treatment blocks or reduces the hormones that cancer cells use as fuel to grow.
Biological therapy: This helps boost the patient’s immune system to more effectively fight the cancer and lessen side effects from other treatments.
Radiation therapy: High-energy rays, similar to X-rays, are used to kill cancer cells.
Chemotherapy: Medications are used to kill or shrink cancer cells. These can be administered through IV, pills or both.
Surgery: Tumors or affected tissue are surgically removed to prevent the cancer from spreading.

Getting my results

Breast imaging results may take up to a week or more to receive. Radiologists interpret the scans, along with your doctor, so that thorough assessments can be made. Many patients don’t receive these results until their follow-up appointment with their physician. With PocketHealth, you don’t have to wait as long—your results are available securely as soon as they’re uploaded, allowing you to review them often before your follow-up visit.

When you do receive your results, it’s common to find medical terminology somewhat confusing. Report Reader helps you to better understand your report by offering clear, straightforward definitions for medical terms—simply tap or click on any underlined words to reveal their meaning.

Frequently asked questions

Here are some common questions regarding breast cancer diagnosis.

How is breast cancer officially diagnosed?

While imaging helps identify abnormalities and tumors, it cannot definitively determine if a tumor is cancerous. In cases of benign cysts or calcifications, imaging can often rule out cancer without further testing. However, if the growth is less clear, a biopsy is the only reliable way to confirm whether it is cancerous. That said, most tumors that are biopsied turn out to be benign.

Is there a blood test to detect breast cancer?

There isn’t a blood test that can outright detect breast cancer, but they can be useful for assessments. A tumor marker blood test may detect proteins produced by cancer cells, which could suggest the presence of a tumor. However, high levels of these markers do not necessarily confirm cancer, and some cancers do not produce these markers at all. Therefore, this test is a helpful supplement to diagnostic imaging and biopsies, but it should not be relied on as the sole method of diagnosis.

Similarly, patients can be tested for gene mutations (such as BRCA1 and BRCA2) that may increase their risk of developing breast cancer. However, this test does not provide a diagnosis, and individuals with these mutations may never develop the disease.

Are there risk factors for developing breast cancer?

There are several factors that can increase a patient’s risk for breast cancer, but it’s important to remember that these don’t necessarily mean the disease will develop. Here are some known factors:

Age: Breast cancer is more common after age 50.
Personal or family history: A family history of breast cancer or having had breast cancer previously can increase risk.
Dense breasts: Dense breast tissue also makes it harder to detect tumors.
Previous radiation treatment: This is especially relevant for patients who have had radiation treatment before age 30.
Menstrual history: Starting menstruation before age 12 and experiencing menopause after age 55 can increase hormone exposure.
Smoking and alcohol consumption: Smoking and drinking alcohol both increase risk.
Sedentary lifestyle: For those who are able, engaging in regular physical activity and maintaining a healthy weight may help reduce risk.
Hormone replacement therapy: The use of oral contraceptives and menopause hormone treatments may increase risk.

What are the recommendations for breast screenings?

The general breast screening recommendation is that AFAB patients with normal risk factors have a mammogram every other year from the ages of 40 to 74. High-risk patients may be advised to have their screenings more frequently or at an earlier age.

Getting support

If you are experiencing a breast cancer diagnosis, just know that you’re not alone. It is the second most common cancer type for U.S. based AFAB patients, with skin cancer being the first. Also, it may be helpful to remember that breast cancer is one of the most intensely studied and prioritized medical conditions. New research and treatments progress regularly. Additionally, the current overall average survival rate for breast cancer patients is 91%. Lastly, there are several support groups and resources that may help you through this stressful time, including:

The Susan G. Komen Foundation: They provide financial assistance, educational resources and tips for getting through treatments.
Breast Cancer Now: A breast cancer research and support charity.
SurvivingBreastCancer.org: They offer research information, seminars, online groups and even meditation and expressive writing classes.
Local resources: Your doctor will likely have local breast cancer support information.

Take control of your breast health journey

Given the routine nature of breast imaging, tracking changes over time is essential. Having secure access to all your imaging records in one place allows you to be actively involved in your health journey. You can compare breast changes, send records to other medical providers, and even print and store these reports for your own use. For Mary, accessing her breast imaging through PocketHealth helped her catch the medical recommendation for more frequent mammogram screenings, something her clinic had missed.

Another tool for your breast health is MyCare Navigator, which provides personalized insights to your health and identifies any recommended follow-up steps. This feature can also generate individualized questions to ask your doctor based on the findings in your report, ensuring you make the most of your consultation.