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Dec 8
Mutation in BRCA1 Gene Linked to Breast Cancer

Columbia scientists believe they have figured out how the BRCA1 gene leads to a hereditary form of breast cancer.

While collaborating with Swedish scientists, the team discovered a gene, named PTEN, is involved in genetic miscues that result in cancer. If the PTEN gene is mutated and not functioning it becomes incapable of preventing cancer. The BRCA1 gene is capable of fixing a broken PTEN gene but if that doesn't happen an extremely hard to treat form of breast cancer forms.

BRCA1 gene"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," said lead investigator Dr. Ramon Parsons. The absence of genuine understanding, he said, stymied efforts to effectively treat BRCA1 patients, who often have a poor prognosis.

Parson believes that defects in PTEN account for 50 percent of breast cancers in women who have inherited a mutated BRAC1 gene. He stated that establishing the PTEN connection now gives drug developers a new target on which to focus in the development of drugs to prevent and treat this type of breast cancer.

Full results of the study are available in the online edition of Nature Genetics.

[Source: NewsDay]

 


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