The journal of Human Molecular Genetics publishes this week a study led by Laura Valle and Ignacio Blanco, with the collaborations of other members of the Hereditary Cancer Program of the ICO IDIBELL and researchers from Valencia. The article provides new evidence on the role of mutations in genes POLD1 POLE and in cases of familial polyposis and colon cancer.

Germline mutations in the exonuclease domain of POLD1 and POLE genes coding for the polymerases ε and δ respectively, have been recently reported in patients with multiple polyps and colorectal cancer. These results required validation in an independent series that also will help to better define the clinical features of patients with mutations in these genes.

To this end, the research team studied more than 850 patients with polyps and/or colorectal cancer without genetic cause identified. Through this work it was possible to demonstrate the role of these genes not only in patients with polyposis, but also families with colorectal cancer and absence of polyps, and endometrial cancer as well as expand the genotypic knowledge of this new hereditary syndrome.

Referencia

Valle L, Hernández-Illán E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Seguí N, Vargas G, Guarinos C, Juarez M, Sanjuán X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, González S, Jover R, Lázaro C, Capellá G, Pineda M, Soto JL, Blanco I. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet. 2014 Feb 5. [Epub ahead of print]