Background: The objective of the study was to quantify the human telomerase reverse transcriptase (hTERT) gene in the circulating DNA of patients with primary breast cancer (BC) and to test its correlation with clinical parameters of the disease.
Patients and methods: One hundred and twenty-one BC patients, 30 patients with fibroadenoma (NBC) and 50 healthy women were enrolled.
Results: The level of hTERT in the plasma was significantly different in BC, NBC and controls (p<0.01), showing a sensitivity of 50% and specificity of 90% in the ability to detect malignancy. The circulating hTERT DNA was significantly different in the estrogen receptor (ER)(+)/progesterone receptor (PgR)(+) compared to the ER(-)/PgR(-) patients (p=0.03). Higher hTERT levels were associated with higher human epidermal growth factor receptor (HER)-2/Neu expression: score 0-1 vs. score 2+ (p=0.01) and vs. score 3+ (p=0.02). Finally, hTERT was significantly inversely correlated with the carbohydrate antigen (CA) 15.3 serum level (p=0.001).
Conclusion: Circulating hTERT DNA has a better diagnostic value than CA 15.3 in early breast cancer disease and could be a possible candidate as a tumor marker in patients with infiltrating ductal carcinoma positive to steroid hormonal receptor and with amplification of HER-2/Neu.