Objective: To determine the integrity of the BRCA1 gene in archival, paraffin-embedded tissues from precancerous lesions of the uterine cervix.
Study design: DNA was extracted from histologically documented precancerous cervical lesions (17 cases). Polymerase chain reactions were performed targeting exon 11 of BRCA1 (434-bp), the L1 consensus human papillomavirus (HPV) gene common to > 25 HPV types, as well as the beta-globin gene. The amplified products were analyzed using denaturing gradient gel electrophoresis.
Results: Mutation of the BRCA1 exon 11 gene was detected in > 76% of cases with precancerous lesions of the cervix. The mutations were either complete deletions or deletions of one or more nucleotides, leading to frame shifts. There were no significant differences in frequency of BRCA1 mutations among precancerous cervical tissues positive for the HPV L1 consensus gene (n = 9) when compared with HPV-negative tissues.
Conclusion: The mutated BRCA1 gene was associated with 76% of 17 precancerous lesions of the cervix. The type of cervical intraepithelial neoplasia and the presence or absence of HPV were not related to the mutations. The role of BRCA1 mutation in the genesis of precancerous cervical lesions needs to be explored further.