Mutation analysis of BrCA1, BrCA2, and p53 versus soluble HLA class I and class II in a case of familial endometriosis.

To investigate possible correlation(s) between mutations of BrCA1, BrCA2, and p53 genes versus soluble HLA expression in familial endometriosis.,Mutation analysis.,University teaching departments and hospital.,A family with seven women in two generations with familial endometriosis.,Mutation analysis of BrCA1, BrCA2, and p53 genes.,A point mutation of the BrCA1 gene appears to inhibit soluble HLA secretion.,Among the three genes examined, only the BrCA1 gene showed a T to A mutation at position 3232 that correlates with total abolishment of both class I and class II antigen release.,A possible correlation between a BrCA1 mutation and soluble HLA expression appears to exist. The mutation is not stage dependent and seemingly influences the secretion of both class I and class II antigens that are totally absent from the serum of only one family member.