Insertional Polymorphisms of Endogenous HERV-K113 and HERV-K115 Retroviruses in Breast Cancer Patients and Age-Matched Controls

Endogenous retroviral sequences resulting from ancient retrovirus infections of germline cells account for up to 8% of the human genome. Most of these sequences are highly truncated, have been altered by mutations, and do not encode functional genes. However, some members of the human endogenous retrovirus (HERV)- K family are remarkably intact and display high genetic homology to mouse mammary tumor virus (MMTV), a retrovirus causing breast cancer in mice. Two full-length HERVs (K113 and K115) have been reported to show insertional polymorphism. We used PCR to investigate the presence of these two HERVs in 102 female breast cancer patients and an equal number of age-matched controls with no history of malignancy (age range: 25–92 years). The two groups showed no significant difference in frequency (HERV-K113, 16.7% vs. 12.7%; HERV-K115, 4.9% vs. 9.8%) and no apparent association with histology, age at diagnosis, receptor status, HER-2/neu status, or TNM stage at diagnosis. This suggests that the two HERV-Ks do not play a pathogenetic role in the majority of breast cancer patients, though they may be involved in a minority of patients. The results are discussed.