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BRCA1

breast cancer 1, early onset

{{Protbox codes

  |Symbol=BRCA1 
  |AltSymbols=
  |Chromosome=17
  |Locus=q21-q24
  |AApre=1863 
  |AApro=---
  |HGNCid=BRCA1 
  |Codes=EntrezGene672, RefSeqNM_007295, UniProtP38398, OMIM113705

}} </table> Image:BRCA Genes-location of BRCA1 and BRCA2 on chromosomes 13 and 17.gif

BRCA1 (breast cancer 1, early onset) is a humangenethat belongs to a class of genes known as tumor suppressor genes. Like many other tumor suppressor genes, BRCA1 regulates the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. In particular, it inhibits the growth of cells that line the milk ductsin the breast.

The protein made by the BRCA1 gene is directly involved in the repair of damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein interacts with the protein produced by the RAD51gene to mend breaks in DNA. These breaks can be caused by natural radiation or other exposures, but also occur when chromosomes exchange genetic material in preparation for cell division. The BRCA2protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. By repairing DNA, these three proteins play a role in maintaining the stability of the human genome.

Research suggests that both the BRCA1 and BRCA2 proteins regulate the activity of other genes and play a critical role in embryo development. The BRCA1 protein probably interacts with many other proteins, including tumor suppressors and regulators of the cell division cycle.

The BRCA1 gene is located on the long (q) arm of chromosome 17at position 21, from base pair38,449,843 to base pair 38,530,933.

Inhaltsverzeichnis

  • 1 Related conditions
  • 2 See also
  • 3 References
  • 4 External links

Related conditions

Certain variations of the BRCA1 gene lead to an increased risk for breast cancer. Researchers have identified more than 600 mutationsin the BRCA1 gene, many of which are associated with an increased risk of cancer. These mutations can be changes in one or a small number of DNA base pairs(the building blocks of DNA). In some cases, large segments of DNA are rearranged. A mutated BRCA1 gene usually makes a proteinthat does not function properly because it is abnormally short. Researchers believe that the defective BRCA1 protein is unable to help fix mutations that occur in other genes. These defects accumulate and may allow cells to grow and divide uncontrollably to form a tumor.

In addition to breast cancer, mutations in the BRCA1 gene also increase the risk of ovarian, prostateand colon cancers.

See also

  • BRCA2
  • Breast cancer

References

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}} Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies{{qif

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 |then=: 1117-30

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External links

  • Online Mendelian Inheritance in Man: OMIM113705
  • EntrezGene672
  • GeneCardpl:BRCA1
Retrieved from "http://en.wikipedia.org/BRCA1"



This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/BRCA1 Wikipedia article BRCA1.

 
  All text is available under the terms of the GNU Free Documentation License