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22 Mar 2006 12:57:16 pm

Brca Testing May Miss Some Cases

Genetic testing for breast cancer is far from perfect. Recently researchers have found that genetic testing for BRCA mutations may fail to give a positive result despite the presence of an abnormality12 percent of the time.

Experts are not surprised by this high rate of error in BRCA detection. They say that the testing has never been perfect and expressions hope that this finding would stimulate development of a more acquired test for detection of BRCA mutations.

Genetic breast cancers constitute about 5% to 10% of all patients with breast cancers. Most of them inherit abnormalities in the genes called BRCA1 or BRCA2. Women who inherit one of these abnormalities may have about an 80% chance of getting breast cancer in their lifetime. These women also have high risk of developing ovarian cancer.

In a study that was published in the Journal of the American Medical Association (JAMA), the researchers provide the results of their analysis. The study involves genetic material from 300 women with at least four cases of female breast cancer, ovarian cancer and/or male breast cancer in their families. All of the women tested negative for mutations in their BRCA genes.

Using a highly specific technique known as MLPA, the researchers found that the genes of 52 women were mutated, including 35 who had changes on their BRCA gene. The MLPA test is not currently clinically available in the United States. Researchers are urging to make is test commercially available in the United States. They're also urging the researchers to develop more accurate genetic tests for BRCA mutations.

Category : General | Posted By : Sherin |

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