LOSS OF THE PLA2G2A GENE IN A SPORADIC COLORECTAL TUMOR OF A PATIENT WITH A PLA2G2A GERMLINE MUTATION AND ABSENCE OF PLA2G2A GERMLINE ALTERATIONS IN PATIENTS WITH FAP

The Min (multiple intestinal neoplasia) mouse with a germline mutation in the adenomatous polyposis coli gene serves as an animal model for familial adenomatous polyposis coli (FAP). The number and age at onset of colorectal adenomas varies in the offspring of Min mice crossed wi th other strains. The murine gene for the secretory phospholipase A2 ( PLA2G2A) was found to be the main candidate for these variations, To t est the hypothesis of a correlation between PLA2G2A gene alterations a nd human tumor development, we screened 14 patients with FAP and 20 pa tients with sporadic colorectal cancer for germline and somatic PLA2G2 A gene mutations. None of the individuals with FAP showed PLA2G2A germ line alterations. However, a germline mutation was observed in one pat ient with an apparently sporadic colorectal tumor; the wildtype allele was somatically lost in the tumor of this patient.