The genetic map revealed mutations typical for Asturias.

A team of researchers from the Central University Hospital of Asturias (HUCA) has managed to identify and publish a genetic map of familial breast cancer in Asturias. This groundbreaking study, published in the journal Clinical Genetics on June 24, highlights the presence of unique genetic mutations worldwide, dating back between 200 and 400 years, that predispose to breast and ovarian cancer.

An exhaustive analysis, conducted over 15 years and involving more than 1,600 Asturian families, revealed that 238 of these families are carriers of pathogenic genetic variants. Milagros Balbín, head of the HUCA Laboratory of Molecular Oncology, notes that some of these mutations have not been previously described in any other population in the world and are specific to Asturias. This phenomenon is explained by the geographical and historical isolation of some Asturian valleys, which has facilitated the transmission of these variants from generation to generation.

Prevention and treatment

The research led by Balbín and Pilar Blay from the HUCA Family Oncology Unit not only sheds light on the origin and age of these mutations, but also highlights the importance of identifying them for the prevention and treatment of cancer.

This knowledge is critical to developing interventions that can reduce the likelihood of disease onset and open up opportunities for specific pharmacological solutions, Bley said.

An example of the relevance of this type of research is the case of actress Angelina Jolie, who took preventive measures after learning of her genetic predisposition to cancer. Likewise, identifying these mutations in Asturias allows families to know their risk and make informed decisions about their health. @mundiario

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