Breast Cancer Diagnosis

  • Diagnosis

    Breast cancer is the most common cancer among women. Estimates indicate that 212,290 American women will be diagnosed with breast cancer in 2006, and about 41,000 women will die annually from this disease. It is estimated that 12% of American women will develop the disease and 3.5% will die from it.

    Late in 2006, researchers presented the results of a study of breast cancer rates at a medical meeting showing a significant drop in new cases of breast cancer since 2003. The study showed that new cases declined by 7%. Many experts attribute this decline to decreased post-menopausal hormone use that occurred after a large study that was published in 2002 linked hormone use with breast cancer.

    The incidence of breast cancer had been rising in American women for more than 30 years.Scientists have several possible explanations: 1) more cases are reported because methods of finding the disease have improved; 2) more women are living into old age (older women are at greater risk for breast cancer); and 3) many women are choosing to have children after age 30. A hormone called estrogen produced by the ovaries is thought to play a role in breast cancer. A woman who has not had children or who has put off having children will have more exposure to estrogen than a woman who gave birth at an early age.

    While the number of cases had been increasing until recently, the death rate seems to be decreasing slightly, particularly for white women, because of early detection and increased use of mammography, as well as improved treatments after surgery.

    Breast cancer is not only a serious physical disease, but it is often an emotionally draining disease as well. Intense feelings of fear, despair, loss, and loneliness are common among patients suffering from breast cancer. Issues regarding sexuality (especially if a mastectomy has been performed) often surround breast cancer. Even if you do not have to undergo a mastectomy, cancer is a word that can be very frightening, and you may find yourself needing a great deal of support from family, friends, and other people who have been diagnosed. It is important to talk with your doctor about the psychological side effects of breast cancer you may be dealing with. There are numerous support groups for women and their families to help cope with breast cancer. Your doctor or nurse can help you locate a group near you.

    The precise cause of breast cancer is unknown. Breast cancer can happen to anyone. Most cases of breast cancer occur in women who are not classified as high risk, a reminder that more research must be done in order to uncover possible causes.

    Breast cancer runs in families. Having a mother and/or a sister with the disease increases your risk. About a quarter of breast cancer cases occur in women who have the disease in the family.

    Breast cancer has a genetic link. Scientists have recently identified two genes (BRCA1 and BRCA2) as having a link with breast cancer. However, defects (or mutations) in these genes seem responsible for only about 5% to 10% of breast cancer cases annually. Women who have these gene mutations are much more likely to develop breast cancer, especially at younger ages, compared to the general population. Studies show that approximately 2% of women of Ashkenazi Jewish origin (Eastern European) are carriers for these mutations. Women with BRCA1 or BRCA2 mutations may be advised to begin screening at age 25 because of their higher risk of developing breast cancer. If you have a strong family history of breast cancer at a young age, have had cancer in both breasts, or were diagnosed with breast cancer before age 30, you should consider being tested for mutations in these genes.

    The female hormone called estrogen is linked to breast cancer. The role of estrogen and its relation to breast cancer is not yet completely understood. If you have never given birth, you are at greater risk for breast cancer because you have had more exposure to estrogen than women who have had a baby. This is because your body produces less estrogen when you are pregnant. Taking estrogen after menopause (hormone replacement therapy: HRT) also increases your risk. It is important to remember that taking estrogen after menopause also increases your long-term risk of heart disease and stroke. There has been a lot of discussion over the birth control pill and its possible link to breast cancer, but at this point, doctors generally agree that there is no greater risk if you are on the pill.

    Some studies suggest that a diet high in animal fat and protein may be a factor in developing breast cancer, although the results of these studies are not definite.

    Staging breast cancer helps to determining the course of treatment and the prognosis. Staging is based on the size of the tumor, how much of the breast tissue is cancerous, whether the underarm (axillary) lymph nodes are also cancerous, and whether cancer can be found in other parts of the body. The 5-year survival rate for localized breast cancer (not spread to the axillary lymph nodes) is 96%. If cancer has spread regionally, the rate is 77%. For those women who are diagnosed with metastatic disease, the 5-year survival rate is only 5 to 10%.

    The stages for breast cancer are:

    • Stage 0: This is characterized by cancer that has not spread from the breast tissue. Both DCIS and LCIS are classified as Stage 0.
    • Stage I: This is an early form of the disease; however, the cancer has invaded nearby tissue. At this stage, the tumor is a little bit less than an inch in diameter, and the cancer has not spread beyond the breast.
    • Stage II is divided into Stages IIa and IIb. It is an early form of the disease.
    • Stage IIa is defined as being either of the following: 1) the cancer is a little less than an inch in diameter, but has spread to the lymph nodes under the arm (the axillary lymph nodes); or, 2) the cancer is between one to two inches, but has not spread to the lymph nodes under the arm.
    • Stage IIb is either one of the following: 1) the cancer is between one to two inches and has spread to the lymph nodes under the arm; or, 2) the cancer is larger than two inches, but it has not spread to the lymph nodes.
    • Stage III is divided into Stages IIIa and IIIb. This stage is considered to be locally advanced cancer.
    • Stage IIIa is defined by either of the following: 1) the cancer is smaller than two inches and has spread to the lymph nodes under the arm, and the lymph nodes are attached to each other or to other structures; or, 2) the cancer is larger than two inches and has spread to the lymph nodes under the arm.
    • Stage IIIb is defined by either of the following: 1) the cancer has spread to tissues near the breast (skin or chest wall, including the ribs and the muscles in the chest); or, 2) the cancer has spread to lymph nodes inside the chest wall along the breast bone.
    • Stage IV: Cancer has spread to other parts of the body (metastatic cancer). The five-year survival rate for cancer diagnosed at this stage is 5 to 10%.
    • Inflammatory breast cancer is a rare form of breast cancer that you can see. The breast looks inflamed and red. The skin may show signs of ridges or dimples or pits. Inflammatory breast cancer tends to spread quickly. It is usually classified as Stage IIIb, with a five-year survival rate of 50%.
    • Recurrent cancer: In recurrent cancer, the disease has come back despite treatment. The cancer can grow in the breast or chest wall (local recurrence), or in distant organs, bones, or lymph nodes (distant metastases). Some local recurrences can be curable, but distant metastases are almost never curable, even though some patients can live a long time. Most recurrences happen two to three years after the initial cancer diagnosis, although recurrences have been known to happen much earlier and much later.

    Different types of tumors cause different types of breast cancer and grow in different areas of the breast.

    Breast cancer is classified as being non-invasive or invasive Figure 01. Non-invasive cancer (in situ carcinoma) is an early form of cancer that has not attacked any other tissue or grown beyond the breast ducts or lobules. Depending on when it is discovered and other factors, it can be cured. Two types of non-invasive cancer are ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS). Both can turn into invasive cancer. Both of these types of cancer are considered to be Stage 0. Invasive cancer is cancer that has spread to other tissues. There are several different types of invasive cancer.

    Click to enlarge: Anatomy of the female breast

    Figure 01. Anatomy of the female breast

    The two types of non-invasive cancer (DCIS and LCIS) are early forms of the disease. Ductal carcinoma in situ (DCIS) generally starts in the channels that carry milk out of the breast (milk ducts). DCIS can be felt during a breast examination, but lately, it is more often detected by mammography. DCIS can develop before or after you stop menstruating (menopause). Surgery is often used to treat DCIS.

    Lobular carcinoma in situ (LCIS) generally starts in the milk-producing glands of the breast. LCIS is not usually detected during a breast examination or a mammogram, but may be an incidental finding by a biopsy. A biopsy is a test done to determine whether or not a lump is cancerous. For a biopsy, a small amount of tissue is taken from the site and sent to a lab for testing. LCIS, which tends to develop before a woman reaches menopause, was once considered to be a pre-cancerous mass of cells. It is now thought to indicate an increased risk for developing a common type of invasive cancer. A woman who is diagnosed with LCIS is watched very carefully to detect any changes and to determine what kind of treatment should follow.

    Invasive breast cancer is cancer that has spread outside the ducts and lobules to the surrounding breast tissues.

    The two main types of invasive breast cancer are invasive ductal carcinoma and invasive lobular carcinoma. About 70% of breast cancer patients have invasive ductal carcinoma. This cancer develops in the milk ducts and can spread into the fatty breast tissue. In many cases it may then spread to other parts of the body such as the lymphatic system. Only about 10% of breast cancer patients have invasive lobular carcinoma. This cancer develops in the milk-producing lobes and can spread to the fatty breast tissue and elsewhere in the body.

    Metastatic breast cancer refers to cancer that has left the breast and spread to distant sites. The most common sites are the lungs, liver, bones, brain, and skin. Cancer can appear in these areas years after the initial diagnosis. Metastatic breast cancer is not curable, although women can live many years with the disease.

    In the early stages of breast cancer, there are often no symptoms, although this changes as the disease progresses. Signs and symptoms of breast cancer can include the following:

    • A lump in the breast that feels distinctly different from other breast tissue or that does not go away
    • Swelling of the breast that does not go away
    • Thickening of breast tissue
    • Dimpling or pulling of the skin on the breast, which may then resemble the skin of an orange
    • Any change in breast shape or contour
    • Nipple discharge
    • Retraction of the nipple
    • Scaliness of the nipple
    • Pain or tenderness of the breast
    • Swollen bumps or festering sores

    These signs can be caused by many conditions, not just breast cancer. It is very important to tell your doctor if you experience any of these symptoms so that the right diagnosis can be made.

    There are two main risk factors for breast cancer: older age and having had breast cancer before Table 01.

    Table 1.  Recognized Risk Factors for Breast Cancer

    High risk Moderate risk Low risk
    Older age Never having given birth Moderate alcohol intake
    North American or Northern European country of birth History of breast cancer in any first-degree relative Menstruation before age 12
    Personal history of breast cancer (in situ or invasive) Personal history of a primary cancer of the ovary or endometrium Menopause after age 55
    Family history of breast cancer in premenopausal women or familial cancer syndrome Age >30 y at first pregnancy ?
    Biopsy showing a proliferative breast lesion with atypia Significant radiation treatment of the chest
    ? Postmenopausal obesity
    Upper socioeconomic class

    Garber JE, Henderson IC, Love SM: Management of high-risk groups. In Breast Diseases, edn 2. Edited by Harris JR, Hellman S, Henderson IC, et al.. Philadelphia: JB Lippincott; 1991, 153-164.

    Older women are at greater risk for breast cancer. If you have been diagnosed in the past, you are more likely to get breast cancer again, even though you have had a successful recovery. Other risk factors associated with the development of breast cancer in women include:

    • Having a mother or sister who has had the disease
    • Never having children, or having a first full-term pregnancy after the age of 30
    • Having had two or more breast biopsies for non-cancerous (benign) conditions, or experiencing changes in the breasts such as atypical hyperplasia or lobular carcinoma in situ
    • Having had an early onset of menstruation, before 12 years of age
    • Having had a late onset of menopause, after 55 years of age
    • Being obese, especially in the postmenopausal years
    • Using alcohol excessively
    • Having breast cancer in the family, and having over 75% dense breast tissue (if the tissue is mostly glandular tissue), especially in women who are at least 45 years of age
    • Having had previous radiation therapy—especially during childhood, for the treatment of Hodgkin’s disease
    • Having had increased exposure to estrogen due to the use of hormone replacement therapy, and also having had a strong history of breast cancer in the family.
    • Living in North America or Western Europe

    If a lump in the breast is found, either by breast self-exam or mammography, other tests will be performed in order to make a diagnosis.

    • Ultrasound scanning. This procedure is generally not part of routine screening for breast cancer, although it can be helpful in determining the difference between a cyst and a solid tumor. It uses high-frequency sound waves to image the breast tissue. Breast MRI
    • If you have breast cancer diagnosed by ultrasound or mammogram, your doctor may order a breast MRI. This test can be useful for evaluating the extent of breast cancer in your breast and for determining if you have any cancer tumors in your other breast.
    • Fine needle aspiration. A thin needle is inserted into the lump and a sample is withdrawn. This test helps to determine if the lump is fluid-filled (a cyst, usually not cancerous) or a solid tumor. It can be performed in a doctor’s office with local anesthesia. The sample, regardless if it is fluid or solid, is sent to the laboratory for further analysis.
    • Core biopsy. A larger needle is inserted into a lump or an area of abnormality seen on a mammogram, and a sample of tissue is removed. The sample is analyzed for cancer cells. This procedure is usually performed at a hospital with local anesthesia.
    • Surgical biopsy. The lump and surrounding tissue is removed surgically before being sent to a laboratory for analysis. This procedure needs to be done in a hospital with either a local or general anesthetic.

    Once a lump is found to be cancerous, further tests are performed to analyze the tumor itself. The tumor can be examined to find out how fast it is growing, and what kinds of treatment might work best.

    In addition to examining the tumor, your doctor will run tests to assess your state of health and help determine whether your tumor has spread. Your doctor will take a full medical history, and will give you a complete physical examination. Your doctor will also look for cancer in the other breast. A chest x-ray will be done to look for cancer in other organs, and a bone scan may be done to look for cancer in the bones. This is done if the tumor is large, if the lymph nodes are enlarged, or if you are having symptoms such as bone pain.

    Because estrogen is linked to the development of breast cancer, limiting exposure to estrogen may decrease the risk. Hormone-blocking therapy, or antiestrogen therapy, is drug therapy that reduces the effects of estrogen, a hormone believed to increase the rate of breast cancer. Studies have shown that young women who have their ovaries removed are at a much lower risk of developing breast cancer than women with intact ovaries. The antiestrogen drug tamoxifen has been used for many years for metastatic and early breast cancer. In the 1990s, tamoxifen was studied as a drug to prevent breast cancer in high-risk healthy women. This study showed that women who took tamoxifen for 5 years had nearly 50% fewer breast cancers than the women who took placebo. However, women on tamoxifen also had other side effects due to the drug, including more blood clots and cancers of the uterus. The use of tamoxifen for prevention should be discussed thoroughly with your doctor. There are current clinical trials looking at two different antiestrogens for prevention as well as other drugs such as retinoids.

    Some women who feel they are at an especially high risk for developing breast cancer may opt to have both breasts removed. This is an extreme measure and is not done very often.

    A mammogram is a type of x-ray used to detect breast cancer Figure 02. Mammography uses low-level x-rays to find abnormal areas in the breast tissue. Mammography can also be useful in detecting small deposits of calcium in the breast tissue. These can be early signs of breast cancer. Although early detection is not always a guarantee that the cancer will be cured, survival is highest among early stage breast cancer and yearly mammograms for women aged 40 and over are highly recommended.

    Click to enlarge: A woman having a mammogram

    Figure 02. A woman having a mammogram

    The best way to reduce the risk of dying from breast cancer is by having regular mammograms after the age of 50. The American Cancer Society recommends that women over 40 years of age have a mammogram once a year. Although a decrease in breast cancer mortality through screening mammography has only been demonstrated in women between the ages of 50 and 75, there is some suggestion that women in their forties may benefit as well. Mammography is less effective in younger women due to the lower incidence of breast cancer as well as the increase in breast density compared to older women. It is best to talk with your doctor about when and how often you should have a mammogram.

    Mammography is not a perfect detection system, but it is the best one available for now. There is the chance of false negatives with a mammogram, which can happen when the cancer is not seen by the scan and therefore not diagnosed. False positives can occur when an area that is not cancerous is diagnosed as being cancer.

    In about 80% of breast cancer cases, the woman detects the lump herself Figure 03. Breast self-exam can allow for the detection of smaller tumors than those found by a doctor or nurse, since you are more familiar with how your breasts feel and are more aware of changes in your breasts.

    Because breast tissue can often feel somewhat lumpy, some women are reluctant to perform breast self-exams, and become terrified at the discovery of a mass. Some lumps are normal, and many women find that their breasts feel differently depending on where they are in their menstrual cycles. Breast self-examination should be performed once a month at the same time each month—about one week after your period. Since your breasts change over the course of your menstrual cycle, if it is done at the same time each month, you will be able to detect changes in your breasts more accurately. Your doctor or nurse can teach you the proper technique for performing a breast-self exam.

    Click to enlarge: Breast self-exam instructions

    Figure 03. Breast self-exam instructions

    The differences between what a benign (not cancerous) lump often feels like and what a malignant (cancerous) lump might feel like are important to keep in mind Table 02. Most lumps are not cancer, but if you feel any lumps or changes, you should notify your physician. Your doctor will be able to make a proper diagnosis.

    Table 2.  Characteristics of Benign and Malignant Lumps

    Benign Malignant
    Soft, spongy Hard (feels like a bead)
    Easily movable Immobile
    Skin is smooth Skin looks dimpled
    No change to nipple Nipple retraction: nipple becomes inverted.
  • Prevention and Screening

    Because estrogen is linked to the development of breast cancer, limiting exposure to estrogen may decrease the risk. Hormone-blocking therapy, or antiestrogen therapy, is drug therapy that reduces the effects of estrogen, a hormone believed to increase the rate of breast cancer. Studies have shown that young women who have their ovaries removed are at a much lower risk of developing breast cancer than women with intact ovaries. The antiestrogen drug tamoxifen has been used for many years for metastatic and early breast cancer. In the 1990s, tamoxifen was studied as a drug to prevent breast cancer in high-risk healthy women. This study showed that women who took tamoxifen for 5 years had nearly 50% fewer breast cancers than the women who took placebo. However, women on tamoxifen also had other side effects due to the drug, including more blood clots and cancers of the uterus. The use of tamoxifen for prevention should be discussed thoroughly with your doctor. There are current clinical trials looking at two different antiestrogens for prevention as well as other drugs such as retinoids.

    Some women who feel they are at an especially high risk for developing breast cancer may opt to have both breasts removed. This is an extreme measure and is not done very often.

    A mammogram is a type of x-ray used to detect breast cancer Figure 02. Mammography uses low-level x-rays to find abnormal areas in the breast tissue. Mammography can also be useful in detecting small deposits of calcium in the breast tissue. These can be early signs of breast cancer. Although early detection is not always a guarantee that the cancer will be cured, survival is highest among early stage breast cancer and yearly mammograms for women aged 40 and over are highly recommended.

    Click to enlarge: A woman having a mammogram

    Figure 02. A woman having a mammogram

    The best way to reduce the risk of dying from breast cancer is by having regular mammograms after the age of 50. The American Cancer Society recommends that women over 40 years of age have a mammogram once a year. Although a decrease in breast cancer mortality through screening mammography has only been demonstrated in women between the ages of 50 and 75, there is some suggestion that women in their forties may benefit as well. Mammography is less effective in younger women due to the lower incidence of breast cancer as well as the increase in breast density compared to older women. It is best to talk with your doctor about when and how often you should have a mammogram.

    Mammography is not a perfect detection system, but it is the best one available for now. There is the chance of false negatives with a mammogram, which can happen when the cancer is not seen by the scan and therefore not diagnosed. False positives can occur when an area that is not cancerous is diagnosed as being cancer.

    In about 80% of breast cancer cases, the woman detects the lump herself Figure 03. Breast self-exam can allow for the detection of smaller tumors than those found by a doctor or nurse, since you are more familiar with how your breasts feel and are more aware of changes in your breasts.

    Because breast tissue can often feel somewhat lumpy, some women are reluctant to perform breast self-exams, and become terrified at the discovery of a mass. Some lumps are normal, and many women find that their breasts feel differently depending on where they are in their menstrual cycles. Breast self-examination should be performed once a month at the same time each month—about one week after your period. Since your breasts change over the course of your menstrual cycle, if it is done at the same time each month, you will be able to detect changes in your breasts more accurately. Your doctor or nurse can teach you the proper technique for performing a breast-self exam.

    Click to enlarge: Breast self-exam instructions

    Figure 03. Breast self-exam instructions

    The differences between what a benign (not cancerous) lump often feels like and what a malignant (cancerous) lump might feel like are important to keep in mind Table 02. Most lumps are not cancer, but if you feel any lumps or changes, you should notify your physician. Your doctor will be able to make a proper diagnosis.

    Table 2.  Characteristics of Benign and Malignant Lumps

    Benign Malignant
    Soft, spongy Hard (feels like a bead)
    Easily movable Immobile
    Skin is smooth Skin looks dimpled
    No change to nipple Nipple retraction: nipple becomes inverted.

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