TY - JOUR AU - Comparetto, Ciro AU - Borruto, Franco PY - 2021 DA - 2021/07/19 TI - Genetic Screening of Cervical Cancer JO - OBM Genetics SP - 132 VL - 05 IS - 03 AB - Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs depends on the identification of early biomarkers (including functional and behavioral) for the risk and onset of the disease, and such programs need to be designed according to internationally accepted criteria. Cervical cancer represents a very relevant disease from the health and social perspective; around 528,000 new cases are diagnosed every year globally, of which, 85% are from developing countries, representing almost 12% of all cancers in females. Substantial reductions in the incidence of and mortality from cervical cancer have been observed after the introduction of prevention campaigns with the implementation of cervical screening programs through Papanicolaou (Pap) tests and, in particular, following the introduction of organized programs which guarantee a high level of screening coverage, as well as, the quality and continuity of diagnostic-therapeutic procedures. It is estimated that Pap smear screening every 3-5 years provides 80% protection against the onset of cancer. Advances in diagnostic techniques, particularly the development of easy-to-use molecular genetic tests, are replacing the use of the established Pap smear as a screening tool. This is possible owing to the discovery in 1975 that some cellular morphological changes (koilocytosis) were related to the presence of a Human Papillomavirus (HPV) infection. The HPV test is performed on a small sample of cells taken from the cervix, similar to the Pap test; however, it is not a morphological exam but a molecular biology exam that detects the presence of HPV by identifying its deoxyribonucleic acid (DNA) or messenger ribonucleic acid (mRNA). The results of numerous experimental studies have demonstrated a greater sensitivity of this test compared to the sensitivity of the traditional Pap test. However, the HPV test has a lower specificity due to two main factors: 1) The HPV test is based on the search for the types of viruses that have a greater oncogenic potential, and 2) It does not discriminate between transient infections and persistent and productive infections. The most widely used molecular tests are based on the search for HPV sequences and genotyping using molecular biology techniques, such as direct hybridization, qualitative polymerase chain reaction (PCR), and viral nucleotide sequencing. SN - 2577-5790 UR - https://doi.org/10.21926/obm.genet.2103132 DO - 10.21926/obm.genet.2103132 ID - Comparetto2021 ER -