Breast Cancer and Genetics

Genetic mutation refers to a change or defect in a gene. A number of genetic mutations can cause you to have an increased risk for breast cancer. All these mutations occur in areas of the genes that influence cancer progression. That includes areas that control repair of damaged DNA, cell division, and cell death. The most common defects are found on genes named BRCA1 and BRCA2. BRCA1 refers to breast cancer gene 1. BRCA2 refers to breast cancer gene 2. These genes are thought to be responsible for up to 80 percent of hereditary breast cancers. BRCA1 and BRCA2 were found in the early 1990s. Their discovery was a huge leap forward in understanding the genetic basis of inherited breast cancer and ovarian cancer. These are, though, large and complex genes. Scientists are still working to understand the importance of different changes in these genes.

There is a new test to identify hereditary and sporadic forms of breast cancer. The test, called gene-expression profiling, is a research tool. It was developed by the National Human Genome Research Institute (NHGRI). The test uses a DNA chip called a microarray. This chip assesses how active 6,000 different genes are within a breast tumor. The researchers have shown they can look at the patterns and determine if the cancer is hereditary or sporadic.

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