Genetic Risk and Breast Cancer part 1
All cancer is genetic. That is to say, that in order for a normal cell to convert to a cancerous cell, a genetic mishap must occur. These genetic mishaps, or mutations, occur quite frequently and are usually of little consequence unless the event occurs at a critical location on one of the chromosomes. A single mutation does not lead to a cancer. Cancer results from two to three separate events over time. For many women breast cancer can be the result of several random chance occurrences, or genetic mishaps—in short, just bad luck. This may explain the presence of certain precancerous conditions such as atypical lobular neoplasia found in biopsies. These conditions may represent the cells‘ first or second mutation. Once cells are “primed,” it only takes the final mutation to develop into cancer.
On the other hand, some women are predisposed to breast cancer because they have inherited one or several gene mutations. In this case, the “deck is stacked,” so to speak, and only a single final genetic mishap is needed to convert a susceptible cell into cancer. In these predisposed women, the odds of developing breast cancer are greatly increased.
But soon we hope to even the odds in fighting the disease in these more predisposed women. Our knowledge of human genetics is
- What support groups are in my area? Is the group for women with breast cancer only, or is it open to all cancers? Does the group focus on newly diagnosed patients, or is it open to people who have had recurrences? What is the average age of the participants? Is a support group available for significant others?
- Should I consider individual psychotherapy regarding coping and related life issues affected by the cancer and the treatment? Can my physician recommend a psychotherapist who has experience with patients with cancer and/or loss issues?
- What does my physician think is the correlation between the mind and the body and healing? increasing every day. Internationally, researchers are attempting to unravel the twenty-three chromosome pairs in each cell, along with their genetic codes. What has been expected to take decades to accomplish in genetic research is ahead of schedule at this time. The hope is that, with the unraveling and understanding of the human genome, gene therapy will soon be available as a preventative strategy for those women who have a predisposing genetic abnormality.
Since a large number of human diseases have a genetic basis, we are certain to see major medical breakthroughs in the near future. Breast cancer should be among the diseases benefited by this research in genetics, and let’s hope there will be a cure.
About 90 percent of breast cancer appears to be the sporadic type, which means the cancer occurs randomly without an underlying inherent defect in the patient’s cells. However, 10 percent of women with breast cancer fall into the hereditary type who receive a defective gene from one of their parents that leads to a breast cancer later in life. Looking to narrow down the site at which cancer begins, scientists have studied over 1,000 separate families and their chromosomes, identifying several genetic defects. At present, these studies are expensive and laborious, but they should lead to the development of simpler testing and, ultimately, to the genetic source of cancer.
The first genetic abnormality that has been discovered to cause increased susceptibility to breast cancer has been labeled BRCA-1. It resides on the seventeenth chromosome and is an autosomal dominant defect. The defect is on one of the twenty-two non-sex-determining chromosome pairs, called autosomes, and, because it is dominant, requires only one of the two paired seventeenth chromosomes to be affected to manifest the cancer susceptibility. When a disorder requires both of the chromosomes in a pair to have the defect, it is known as recessive.
Researchers have followed hundreds of separately identified and thoroughly studied families with this BRCA-1, autosomal dominant defect. Approximately 60 to 80 percent of women with this defect will go on to have a final converting event and develop breast cancer. Moreover, breast epithelial cells are not the only susceptible cells. Between 25 and 40 percent of women with BRCA-1 will develop ovarian cancer. Since this is an autosomal defect, the children of an affected person have a 50 percent chance of inheriting the defective gene because when a person makes germ cells, eggs or sperm, only one of each pair of seventeenth chromosomes goes into each germ cell. This reduction of chromosomes is called meiosis. Males and females inherit the defect. Males with the defect do not develop breast cancer but do have a significantly higher incidence of prostate cancer. There is a misconception in the medical community that breast cancer only comes from the mother’s side of the family. It is important to consider both sides since the abnormal gene can be inherited from either parent.
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