MUTATION OF GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE AND ITS ASSOCIATION WITH OVARIAN-CANCER AND ENDOMETRIOSIS

Impaired galactose metabolism has been proposed as a risk factor far o varian cancer and endometriosis, which is a putative precursor of endo metrioid and clear cell histological sub-types of ovarian cancer. The prevalence of the most common galactose-1-phosphate uridyl transferase gene mutations, Q188R and N314D, was assessed in 206 women with ovari an cancer, 78 women with endometriosis and 248 controls. No Q188R muta tions were found in any of the groups. A statistically significant inc rease in the frequency of N314D mutations was observed in women with s erous and undifferentiated histological sub-types of ovarian cancer, b ut not mucinous, endometrioid or clear cell sub-types. There were no s ignificant differences observed in the N314D mutation frequency betwee n women with endometriosis (18%) and controls (17%). Our results suppo rt previous reports of an association of impaired galactose metabolism with serous and undifferentiated ovarian cancers but contradict previ ous findings of increased N314D mutation frequencies among women with endometriosis and endometrioid and clear cell sub-types ovarian cancer . (C) 1998 Wiley-Liss, Inc.