Breast cancer map reveals 400-year-old mutations

Breast cancer map reveals 400-year-old mutations
Breast cancer map reveals 400-year-old mutations

Oviedo (EFE).- A team of researchers from the Molecular Oncology Laboratory of the Central University Hospital of Asturias (HUCA) has published the genetic map of familial breast cancer in the Principality, which reveals specific mutations dating back up to 400 years that predispose to this type of tumor.

The study, published in the journal ‘Clinical Genetics’, highlights that between 200 and 400 years ago, a series of hereditary mutations occurred in the BRCA1 and 2 genes that predispose to breast and ovarian cancer and that have only been maintained in certain Asturian valleys due to the isolation of the population.

The work includes the study and analysis of more than 1,600 families over more than fifteen years and represents an important representation of familial breast cancer cases in Asturias.

Research has revealed that 238 of these families are carriers of pathogenic genetic variants.

One of the main discoveries of the study is the discovery of a few mutations specific to the Asturian population, but which affect more than half of the families with mutations.

The study was led by Dr. Milagros Balbín, head of the Molecular Oncology Laboratory at HUCA, head of the Molecular Oncology group at the Research Institute of the Principality (ISPA) and researcher at IUOPA, and by Dr. Pilar Blay, from the Familial Cancer Unit of the Medical Oncology Service at HUCA.

Members of IUOPA and the University of Oviedo have collaborated in carrying out the genetic studies that have made it possible to trace the age of each of the mutations.

Balbín explained that the fact that many families with hereditary breast cancer have the same change led the team to study the origin of these mutations.

“Some of these mutations appeared more than 400 years ago and have only been maintained in certain Asturian valleys due to the isolation of our population,” added Ana Sánchez Pitiot, first signatory of the work. EFE

 
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