Gene Mutation Plays a Role in Breast Cancer
By Matthew Williams
11:44, December 10th 2007
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Gene Mutation Plays a Role in Breast Cancer

Researchers announced on Sunday that they’ve discovered a way that women who inherit a version of the gene BRCA1 which suffered a mutation, are more inclined to develop breast cancer. This discovery might help in finding new treatments.

The scientists said that another gene, called PTEN, plays an important role.

In the mid ‘90s scientists discovered that BRCA 1 normally repairs other damaged genes. But if it sufferers mutations it could lead to breast cancer, Herald Net informs.

Studies on PTEN show that it acts as a brake on cancer, but in breast cancer in an association with a mutated BRCA 1, PTEN is broken and it doesn’t get fixed. So when is crippled, PTEN can not block the activities of a BRCA1 mutated. This triggers a chemical cascade leading to malignancy.

Dr. Ramon Parsons of Columbia University conducted the research along with his colleagues and reported the results on the Web site of Nature Genetics. According to him, this breakthrough is "probably a major way" that mutations in BRCA 1can develop cancer.

Dr. Parsons said that PTEN was discovered 10 years ago and researchers know the chemical pathway that is triggered when PTEN is disabled.

He said: "Ever since the link was established between BRCA1 and breast cancer, we have been frustrated by our lack of understanding about how mutations in this gene cause breast cancer," Newsday.com reports.

Animals have been tested by drug companies to find a way to stop tumors by interrupting the cascade, and so far have came up with some encouraging results.

According to Dr. Parsons, 50 percent of breast cancer is probably due to defects in PTEN. These women are the ones that inherit a mutated BRCA1 gene.

Dr. Janice Lu, breast cancer researcher and assistant clinical professor at Stony Brook University, said: “Women with BRCA1 and BRCA2 have up to an 85 percent chance of developing breast cancer, and up to a 60 percent chance of ovarian cancer. So the mechanism is very important."

The BRAC1 gene associated with breast cancer are aggressive. The two genes, BRCA1 and BRCA2, are guilty for 15 percent of all breast cancer.



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