Characterization of a novel POLD1 missense founder mutation in a Spanish population.

Background: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain).

Methods: Clinical and molecular data were collected from four independent families known to have a POLD1 Leu474Pro mutation.