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Colorectal cancer (CRC) is one of the most prevalent tumors in industrialized countries with an estimated annual worldwide incidence of over 1,200,000 cases. Previous studies indicate that hereditary factors considerably contribute to CRC, estimating that approximately 13% of all cases have a familial component.


Thanks to the efforts made in the last decades to elucidate the genetic causes of hereditary cancer, we already know a number of genes that, when mutated, cause the increased cancer risk in these families. However, the number of cases that can be explained by mutations in known genes is still low. This situation requires additional efforts from the researchers to identify additional hereditary cancer genes or genetic mechanisms resposible for this cancer predisposition.


Much of the genetic predisposition to colorectal cancer is still unknown.



Members of high risk families undergo periodic colonoscopies in order to prevent or early detect cancer. Knowing the genetic cause of this predisposition to develop cancer will allow the identification of  the family members who are really at high risk and those who are not, allowing the implementation of adequate clinical surveillance.



The characterization of hereditary cases has historically contributed to the better knowledge of the general carcinogenic processes.

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