Breast Cancer Prevention (cont.)
Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD
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.
William C. Shiel Jr., MD, FACP, FACR
William C. Shiel Jr., MD, FACP, FACR
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.
In this Article
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
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
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-telangiectasia mutation) 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.
Reviewed by William C. Shiel Jr., MD, FACP, FACR on 4/16/2012
Viewers share their comments
Breast Cancer Prevention - Mammograms Question: How often do you get a mammogram? How old were you when you received your first screening?
Breast Cancer Prevention - Genetic Tests Question: Does your family have a history of breast or other cancers? Have any relatives been tested for the BRCA1 and BRCA2 genes?
Breast Cancer Prevention - Early Detection Question: Were you diagnosed with early stage breast cancer? If so, what was the treatment?
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