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Identified as responsible for breast and ovarian hereditary cancer 3 mutations at BRCA1 gene
Date:4/18/2013

iants in specific vectors to assess the transcriptional activity of the mutant compared to the control activity of the wild-type sequence of the BRCA1 gene.

From this analysis, the researchers concluded that three of the seven variants of unknown biological significance are actually pathogenic and will serve clinicians to a better genetic counseling to patients and families that present these variants, allowing personalized risk assessment cancer.

Genetic counselling

The knowledge of the clinical effects of these mutations will allow to offer genetic counselling to families. "To the individuals who carry the mutation we can offer a comprehensive clinical monitoring and the possibility of reproductive options, such as prenatal or preimplantation diagnosis", said Lazaro, "while members of the family who doesn't have the mutation can be considered as general population".


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Contact: Arantxa Mena
comunicacio@idibell.cat
34-932-607-129
IDIBELL-Bellvitge Biomedical Research Institute
Source:Eurekalert

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