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Genetics of Breast Cancer

In 1994 medical researchers announced discovery of a genetic mutation that could cause breast cancer. They called it BRCA1. In 1995 other researchers found a second mutated gene, another gene that could cause breast cancer. They called that gene BRCA2.

Those discoveries helped to explain why some families had many family members who were beset with special problems. Some families found that many family members had an early onset of breast cancer; quite a few had a cancer in both breasts; some family members had cancer of the ovary (in addition to breast cancer) or knowledge of a male family member who had had breast cancer. Research in the field of cancer genetics had uncovered the reason for the high numbers of breast cancers in certain families.

The techniques used for research in cancer genetics revealed more information in February of 2002. That month a researcher in Australia announced the discovery of BRCA3. The molecular biologists had discovered yet a third mutation that could cause breast cancer. That finding re-emphasized the importance of the family history. Questions about family history thus became standard practice in all oncology clinics.

As genetic testing revealed the presence of BRCA1, 2 or 3 in certain families, the women in those families looked to medical research to provide a cure. Later some of those women read about Human Epidermal growth factor Receptor 2 (HER-2). Molecular biologists had learned that a healthy breast cell has 2 copies of the HER-2 gene. That gene makes the required HER-2 protein, a protein needed for growth, repair and division.

Information obtained through research in cancer genetics disclosed that breast cancer could result from an excess of the HER2 gene. The presence of a mutated HER2 gene caused the production of an abnormally large amount of HER-2 protein. A mutation in the HER-2 gene gave breast cells bad information, and it thus lead to erratic and unchecked cell growth.

One chemical does have the power to stop the production of the HER-2 protein. That chemical is the drug named Herceptin. Herceptin is a monoclonal antibody, i.e. a protein made from recombinant DNA. Herceptin can bind selectively to cells with the HER-2 protein. HER-2 protein serves as a “marker” for the Herceptin molecules.

Patients normally receive Herceptin intravenously every 2 to3 weeks. Herceptin demonstrates the ability of cancer genetics to foster the development of cancer drugs that target only cancer cells.

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