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Year:
2000
| Volume: 8
| Issue: 1
| Pages: 21-23
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Review Article |
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BREAST CANCER SUSCEPTIBILITY GENE 1 - BRCA 1
Lidija RAICEVIC-MARAVIC, Sinisa RADULOVIC |
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DOI:
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Abstract: |
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Breast cancer is the most common cancer in human population and second-leading cause of cancer mortality in women with approximately one in nine being affected in their lifetime. Epidemiological studies have shown that 5-10% of all breast cancer cases are thought to be hereditary. Linkage analysis have provided the evidence for the existence of several breast cancer susceptibility genes. One of them, BRCA1 (BReast CAncer susceptibility gene1) has been mapped in 1990 and detected by positional cloning in 1994. It spans approximately of 100kb of genomic DNA organized in 22 coding and 2 non-coding exons. Product of BRCA1 gene is protein of 1863 amino acids with still unknown function. The mechanisms of its biological function(s) is subject of intensive research. Germ-line mutations in the BRCA1 gene can be found in 45% of families with significantly high incidence of breast cancer and at least 80%-90% of families with an increased incidence of both breast and ovarian cancer. |
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Key words:
BRCA1 gene; Breast cancer; Ovarian cancer; Cancer susceptibility genes |
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