Gens for Breast and Ovary Cancer

Researchers of the hereditary cancer research group at the Bellvitge Biomedical Research Institute (IDIBELL) and the Catalan Institute of Oncology (ICO) conducted a functional and structural study of seven missense variants of the BRCA1 gene concluding that three of these variants are pathogenic, linked to the risk of suffering breast or ovarian cancer. The study has been published in the journal PLoS One.

Mutations in BRCA1 confer a high risk of developing breast or ovarian cancer. A woman carrying a mutation in this gene has a risk of developing breast cancer between 40% and 90% and of developing ovarian cancer between 20% and 70%.

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