In recent days news about Angelina Jolie’s double mastectomy have put BRCA1 gene, the gene associated with a high risk of breast cancer, back into the limelight.
BRCA1 protein is a multifunctional protein and although the gene was cloned in 1994 and much has been discovered, it is still not clear how the mutation leads to higher incidence primarily in breast and ovarian cancer.
Turned the spotlight on the gene… But what does it do?
In recently published article entitled “BRCA1 in the DNA damage response and at telomeres” by Dr. Eliot Rosen, the subject on BRCA1 is once again reviewed with highlights on controversies and unresolved topics (Frontiers in Genetics, April 2013).
Briefly, the author discusses in how BRCA1 protein is recruited during a DNA damage response. It is this functional association with DNA repair that clearly links the protein to cancer …. but how this response contributes to tumor suppression remains unresolved.
In addition, the relationship between telomeres and BRCA1 is highlighted. In a simplified view, telomeres could be detected by BRCA1 as DNA damage. Since BRCA1 is involved in repairing DNA damage, scientists have known that BRCA is recruited to the telomeres. The review article discusses among other experimental topics how BRCA1 gene can inhibit telomerase activity when too much BRCA1 protein is present and by a separate mechanism cause accelerated telomere degradation (but somehow also protect against telomere dysfunction).
The crux of the problem with the BRCA1 Gene appears that it can inhibit telomerase and can cause accelerated telomere shortening.
The continuing BRCA1 Gene Mystery
The mechanism for how BRCA1 causes telomere shortening remains to be determine since it causes accelerated telomere shortening that can not be accounted by simply turning telomerase off. Critical shortening of telomeresis believed to cause an increase in cancer development.
In conclusion much progress has been made in determining how BRCA1 functions but it is clear that many more questions need answering and more effort in this active field of research is still required.
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