Hereditary tumors: what are the syndromes that are transmitted in the family

Hereditary syndromes are a spectrum of diseases which can determine, due to pathological alterations of the genetic material (i.e. DNA) in germinal cells (oocytes or sperm), various types of diseases or malformations that can be transmitted to the offspring. Limited to oncological pathology, around fifty are known, while there are over a hundred genes associated with a predisposition to cancer, with levels of risk of getting sick in the course of life from two to 40 times higher than in the normal population, depending on the syndrome and the organs involved.

«There are no precise estimates on the population of carriers of rare hereditary syndromes, in which the prevalence is one case every several thousand, sometimes several hundreds of thousands of births. It can be assumed that as a whole in Italy the subjects with rarer hereditary syndromes are over 100 thousand, in most cases unaware of being at risk of disease and therefore without any possibility of being included in specific primary or secondary prevention pathways (early diagnosis)» says Salvo Testa, president of the Mutagens Foundation.