Thursday, May 27, 2010

What is Mutation in BRCA Gene and Its Role in Breast Cancer?

Genes are located in the Chromosomes present the cell nucleus. These are chemically DNA (De-oxy-ribose nucleic acid). Genes are responsible for cell replication and regulation of processes of body. Sometimes, genes get changed or damaged due to influence of various factors; critical are; environmental factors, radiation and errors during the processes of numerous cell replications during life time.

There are several genes working as custodians to repair the defective genes. Amongst them Breast Cancer Susceptibility Genes (BRCA) are more important. These are of two types namely BRCA1 and BRCA2 and are tumor suppressors. Mutation in these genes may affect their function in relation to repair of other genes regulating the cell replications. This is just like a corrupt or sleeping police. As a result there occurs uncontrolled growth of cells.  These mutated genes may run in the family or mutation may occur in any particular generation. Women who have an abnormal BRCA1 or BRCA2 gene have up to an 85% risk of developing breast cancer by age 70.
Mutation in BRCA1 and BRCA2 are linked to increased cancer susceptibility in comparison to the normal population. It has been seen by the researchers that mutation occurs at least in three places. All women carrying the defective gene may not get breast cancer, about 60% of them may develop breast cancer in comparison to 12% of women in the general population
These can be tested from a blood sample and report may be available in 5 to 7 days. It is tested in all the cases of breast cancer patients and prophylactically in the women of family carrying BRCA positive genes.

More information about the professional on genetic can be had from NCI
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