OBJECTIVE: Multiple variables affect the probability of development of cancer. The present study aimed to screen Egyptian females for early prognostic cancer markers such as carcinoembryonic antigen (CEA), the soluble form of transmembrane mucin protein (CA15-3), MUC1 and important sex hormones (Progesteron, Oestrogen, and Prolactin) and three germline BRCA1/2 founder mutations.
PATIENTS AND METHODS: Forty-five DNA samples were screened for 185delAG and 5382insC in the BRCA1 and 6174delT in the BRCA2 genes using polymerase chain reaction (PCR)-directed mutagenesis. Each sample of the 185delAG and the 6174delT mutations was confirmed using Restriction Fragment Length Polymorphism (RFLP) analysis. Nine suspected PCR products of 185delAG and the forty-five amplicons of 6174delT mutations were further confirmed using Sanger sequencing. Sex hormones (Progesteron, Oestrogen, and Prolactin) and cancer antigens (CA 15-3 and CEA) concentrations were quantitatively determined in serum samples using ELISA.
RESULTS: We found significant associations only for oestrogen (p-value=0.036), while non-significant (p-value= 0.123) hyperprolactinemia with cancer history. But none of the individuals carried the BRCA1/2 studied mutations while new variants were detected; (delA) in position 93865, deletion (delA) or substitution of A by G (A/G) in position 93858 and (insA) in position 93844 with frequency of 50%, 50%, 25% and 25%, respectively, in subjects with cancer history.
CONCLUSIONS: The serum level of oestrogen could be a useful non-invasive cancer marker while significant association of hyperprolactinemia and the new BRCA1/2 variants with cancer needs extra study
