Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Medical Author: Carolyn Janet Crandall, MD, FACP
Medical Editor: William C. Shiel Jr., MD, FACP, FACR
Ms. G. is a 40-year-old woman with two small
children. Like most women, she is concerned about her chances of developing
breast cancer. She asks her doctor about her risks.
Although breast cancer is a worry for most women, Ms. G. is especially worried because of a
family history of breast cancer. Her mother and sister had breast cancers that were diagnosed
at young ages.
A woman with a family history of breast cancer
has a lot of concerns. Among other things, she is thinking of her job, children,
and husband, as well as how her medical insurance and health team will be able
to serve her needs in the future should a crisis arise.
What are the facts about families that have multiple members with breast cancer?
Inherited breast cancer disorders account for a
small minority of breast cancers overall. Genes are the "messages" in
each cell of the body that determine the ultimate design of our bodies. Genes
can be damaged by the environment. Additionally, people can be born with defects
in the genes that remove the body's defenses against cancers. Only in about 10%
of all breast cancer cases is there actually a genetic defect that can be
tested. This means that 90% of breast cancers are due to other causes. In fact,
most cases of breast cancer occur in women who do not have a family history of
breast cancer. A complex interplay between environmental and genetic factors
affect the development of breast cancer, and all the key factors have not yet
been identified.
For so many women, there is no more dreaded disease than
breast cancer. Breast cancer elicits fears related to loss of body image and
sexuality, surgery, and death. As is the case for most cancers, the exact cause
of breast cancer is not clearly known. Furthermore, there is currently no cure
for
advanced disease, and there is no definitive way of preventing it.
Breast cancer also affects men. Male breast cancer accounts for about 1% of all breast cancers. Around 229,000 new cases of breast cancer are diagnosed each year in women in the U.S., while about 2,200 cases are diagnosed in men.
Our knowledge of how breast cancer develops is expanding rapidly. As a result, new medications are being developed to reduce the risk of breast cancer among those at high risk of contracting this disease. For the majority of women, lifestyle changes, a healthy
diet,
exercise, and weight reduction can also help reduce the chance of
developing breast cancer. To date, the most important strategy in improving
survival is still breast cancer screening and early detection. Breast cancer is
the second leading cause of cancer deaths among women in the United States. The
leading cause is lung cancer. One in every eight women in the United States
develops breast cancer. The risk is even higher for women with previous breast
cancer, those who have first-degree relatives with breast cancer, those with
multiple family members with cancer, and those who have inherited "cancer
genes."
What are the biological causes of breast cancer?
Breast cancer cells, like all cancers, initially develop because of defects in the genetic material deoxyribonucleic acid (DNA) of a single cell. The human body is composed of trillions of cells. Inside the inner core (nucleus) of each cell is our DNA located on chromosomes. Every human cell has two sets of 23 chromosomes. Each set is inherited from one parent. DNA exists as long, spiraled strands on these chromosomes. Different segments along the DNA strands contain information for various genes. Genes are blueprints that provide genetic instructions for the growth, development, and behavior of every cell. Human DNA is thought to contain approximately
23,000 genes. Most genes carry instructions for the types and the amount of proteins, enzymes, and other substances produced by the cells. Genes also govern the sizes and the shapes of the organs by controlling the rate of division of the cells within these organs. (During cell division, a cell makes a duplicate copy of its chromosomes and then divides into two cells.) Some genes restrict cell division and limit tissue growth.
Defects on the DNA strands can lead to gene coding
errors, which in turn can cause diseases. When genes that normally restrict cell
growth and divisions are absent or defective, the affected cells can divide and
multiply without restraint. The cells that divide and multiply without restraint
enlarge (forming a tumor) and can also invade adjacent tissues and organs. These
cells can further break away and migrate to distant parts of the body in a
process called
metastasis. The ability to multiply without restraint, the tendency to invade
other organs, and the ability to metastasize to other parts of the body are the
key characteristics of cancers -- characteristics that are due to DNA defects.
The cancer-causing DNA defects can be acquired at birth (inherited) or may
develop during adult life. The inherited DNA defects are present in every cell
of the body. On the other hand, DNA defects that develop during adult life are
confined to the descendants (products of cell divisions) of the single affected
cell. Generally, inherited DNA defects have a greater tendency to cause cancers
and cancers that occur earlier in life than DNA defects that develop during
adult life.
Research has shown that 5%-10% of breast cancers are
associated with mutations (defects) in two genes known as breast
cancer-associated (BRCA) genes, BRCA1 and BRCA2. These genes function to
prevent abnormal cell growth that could lead to cancer. Every cell in the body
has two BRCA1 or BRCA2 genes, one inherited from each parent. A woman who has
received one defective BRCA1 or BRCA2 gene from one parent and a healthy gene
from the other is called a carrier of the defective BRCA gene. Even though only
one healthy BRCA1 or BRCA2 gene is needed to help prevent cancerous growth of
cells, the one remaining healthy BRCA gene is vulnerable to damage during adult
life by environmental factors such as toxins, radiation, and other chemicals
such as free radicals. Therefore, women bearing a defective BRCA1 or BRCA2 gene
are at an increased risk of developing breast and ovarian cancers. Women carrying defective BRCA1 or BRCA2 genes also
tend to develop these cancers earlier in life.
Other rare genetic mutations are also associated with an increased risk for
the development of breast cancer, including mutations of the tumor suppressor
gene p53, the CHEK-2 gene, and the ATM (ataxia-telangiectasiamutation) gene.
Since inherited DNA defects account for only 5%-10% of breast cancers, the
majority of breast cancers are due to DNA damages that develop during adult
life. Environmental factors that can cause DNA damage include free radicals,
chemicals, radiation, and certain toxins. But even among individuals without
inherited cancer-causing DNA defects, their vulnerability to DNA damage, their
ability to repair DNA damage, and their ability to destroy cells with DNA
damage, are likely to be genetically inherited. This is probably why the risk of
cancer is higher among first-degree relatives of breast cancer patients, even
among families that do not carry the defective BRCA1 and BRCA2 tumor-suppressing
genes.
Some of the errors in the normal control mechanisms allow the accumulation of
additional errors in other parts of the system. These errors may lead to gene
silencing of critical control genes or the overactivity of other
growth-stimulating genes by activation of promoter sites adjacent to these
otherwise normal genes.
Other substances such as estrogen (a female hormone) and certain fatty acids
may also increase the risk of breast cancer by stimulating the growth and
division of cells of the breast tissue.
Alcoholism is a disease that includes alcohol craving and continued drinking despite repeated alcohol-related problems, such as losing a job or getting into trouble with the law.
Breast cancer is the most common cancer in women and the second most common cause of cancer death in women in the U.S. Symptoms include a lump in the breast or underarm area, nipple pain, change in breast size or shape, an inverted nipple, nipple discharge, and breast skin changes. Treatment may involve chemotherapy, radiation therapy, biological therapy, hormone therapy, or surgery.
Fibrocystic breast condition (sometimes called fibrocystic breast disease) is characterized by lumpiness and usually discomfort in one or both breasts. The condition is very common and benign (not malignant). Fibrocystic breast condition is the most common cause of "lumpy breasts" in women. A common symptom of fibrocystic breast condition is breast pain or discomfort. There are two types of fibrocystic breast condition, cysts and fibrosis, and Hyperplasia and atypical hyperplasia of breast cells.
Obesity is the state of being well above one's normal weight. A person has traditionally been
considered to be obese if they are more than 20 percent over their ideal weight.
That ideal weight must take into account the person's height, age, sex, and
build.
Cancer is a disease caused by an abnormal growth of cells, also called malignancy. It is a group of 100 different diseases, and is not contagious. Cancer can be treated through chemotherapy, a treatment of drugs that destroy cancer cells.
Breast lumps in women can have a variety of causes such as breast inflammation, infection, injuries, cancer, and non-cancerous growths. Breast lumps in women are diagnosed with physical exam, mammogram, ultrasound, MRI, and biopsy. Treatment of breast lumps in women depend on the cause.
Male breast cancer accounts for 1% of all breast cancers, and most cases are found in men between the ages of 60 and 70. A man's risk of developing breast cancer is one in 1,000. Signs and symptoms include a firm mass located below the nipple and skin changes around the nipple, including puckering, redness or scaling, retraction and ulceration of the nipple. Treatment depends upon staging and the health of the patient.
The breast generally refers to the chest, however, more specifically, to the mammary gland. The mammary gland is a milk producing gland comprised largely of fat. Within the mammary gland is a complex network of branching ducts. The ducts exit from sac-like structures called lobules, which can produce milk in females. The darkened area around the nipple is called the areola. Common medical concerns in regard to the breast include breast lumps, breast cysts, breast cancer, and breast infections.
Though it's difficult to say why some people develop cancer while others don't, research shows that certain risk factors increase a person's odds of developing cancer. These risk factors include growing older, family history of cancer, diet, alcohol and tobacco use, and exposure to sunlight, ionizing radiation, certain chemicals, and some viruses and bacteria.
Paget's disease is a rare form of cancer that forms in or around the nipple and frequently coexists with breast cancer. The exact cause of Paget's disease is unknown. Symptoms include redness, scaling, and flaking of the nipple skin. A biopsy and imaging studies are needed to diagnose the disease. Treatment may include surgery, radiation, and adjuvant therapy.
Women's health is an important topic area to guide a woman through the stages of her life, as well as knowing the conditions and diseases that may occur. Educating yourself so that the transitions into different phases of life is key to a healthy, happy, and productive life.
There are a number of different methods of birth control to include: barrier methods, IUDs, hormonal methods, natural methods, and surgical sterilization. Birth control methods can be reversible or permanent. In simple terms, all methods of birth control are based on either preventing a man's sperm from reaching and entering a woman's egg (fertilization) or preventing the fertilized egg from implanting in the woman's uterus (her womb) and starting to grow.
Regular physical activity can reduce the risk of disease. Regular exercise can also reduce the symptoms of stress and anxiety. There are fitness programs that fit any age or lifestyle.
About 5% of cases of breast cancer occur in women under the age of 40 years old. Some risk factors for breast cancer in young women include a personal history of breast cancer or breast disease, family history of breast cancer, prior radiation therapy, and the presence of BRCA1/BRCA2 gene mutations. Breast self-exams, clinical breast exams, and screening mammograms may help detect breast cancer. Treatment may include surgery, chemotherapy, radiation, and hormone therapy.
Breast cancer most often recurs within the first three to five years after the initial treatment. Changes in the look, feel, or appearance of the breast may indicate breast cancer recurrence. Factors related to recurrence include tumor size, tumor grade, hormone receptor status, lymph node involvement, and oncogene expression. Treatment for recurrent breast cancer depends on the initial treatment.
Disease prevention in women includes screening tests that are a basic part of prevention medicine. All screening tests
are commonly available through your general doctor. Some specialized tests may be available elsewhere.
Being diagnosed with breast cancer is stressful. Learning relaxation techniques, exercising, eating well, getting adequate sleep, receiving psychotherapy, and maintaining a positive attitude can help you cope. Creating documents, such as an advance directive, living will, and durable power of attorney will outline your wishes in the event that you are no longer able to make decisions regarding your care.
Breast cancer occurs in about 1 in every 1,000 pregnant women. Treatment of breast cancer during pregnancy involves surgery, but it is very difficult to protect the baby from the dangerous effects of radiation and chemotherapy. It can be an agonizing to decide whether or not to undergo breast cancer treatment while one is pregnant.
As breast cancer is the most diagnosed non-skin cancer in American women, it is important to know your breast cancer risk. Risk factors include age, age at menarche, age at first live birth, history of breast abnormalities, breast biopsies, race, and history or breast cancer among first-degree relatives.
Certain behavioral, lifestyle, and environmental factors contribute to cancer. Cancer prevention involves modifying these factors to decrease cancer risk. Tobacco use, alcohol consumption, physical inactivity, inadequate fruit and vegetable intake, and obesity increase the risk of certain cancers. Vaccines, genetic testing, and cancer screening also play a role in cancer prevention.
Breast cancer clinical trials are research programs designed to evaluate new medical treatments, drugs, or devices for the treatment of breast cancer. Clinical trials are designed to test the safety and efficacy of new treatments as well as assess potential side effects. Clinical trials also compare new treatment to existing treatments to determine if it's any better. There are many important questions to ask your doctor before taking part in a breast cancer clinical trial.
There are many causes of breast lumps. Some of
these causes are harmless, while others can be painful and/or dangerous. Causes
of breast lumps include infections, injuries, non-cancerous growths, and cancer.
Breast cancer is the second leading cause of
cancer-related deaths in women in the United States. Currently, death rates from
breast cancer are declining. The decline in death rates may be due to a
combination of earlier detection and better screening as well as improved
treatments. While most breast lumps are harmless (benign), every breast lump
should be evaluated by a doctor to exclude or establish a diagnosis of cancer.
Picture of the anatomy of the breast
Infections that cause breast lumps
Inflammation of the breast tissue is known as mastitis. Mastitis is especially common in women who are
breastfeeding a baby (lactating). When the skin of the nipple (areola...