Objective: To investigate possible correlation(s) between mutations of BrCA1, BrCA2, and p53 genes versus soluble HLA expression in familial endometriosis.
Design: Mutation analysis.
Setting: University teaching departments and hospital.
Patient(s): A family with seven women in two generations with familial endometriosis.
Intervention(s): Mutation analysis of BrCA1, BrCA2, and p53 genes.
Main outcome measure(s): A point mutation of the BrCA1 gene appears to inhibit soluble HLA secretion.
Result(s): 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.
Conclusion(s): 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.