Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.

Over a 46-month period, the objectives of the National Cancer Control Program (NCCP, pol. Narodowy Program Zwalczania Chorób Nowotworowych), coordinated by the Ministry of Health, were pursued by conducting genetic diagnostics on individuals at high risk of developing cancer. A total of 1097 individuals were enrolled in the study, leading to the identification of 128 cases of germline mutations. The implementation of the NCCP led to the identification of genetic mutations in 4.43% of the patients qualified for BRCA1 and BRCA2 screening tests, in 18.18% of those qualified for a comprehensive next-generation sequencing (NGS) panel in cases of breast and ovarian cancer, and in 17.36% of cases of colorectal and endometrial cancer. The research conducted allowed us to establish individualized preventive and therapeutic approaches for mutation carriers. However, the results prove that liberalizing the inclusion criteria for high-throughput diagnostics and the use of broad gene panels could significantly increase the percentage of detected carriers. This publication serves as a summary and discussion of the results obtained from the implementation of the NCCP as well as of the role of genetic consulting in personalized medicine.

COLPOSCOPY 2020 - COLPOSCOPY PROTOCOLS: A Summary of the Clinical Experts Consensus Guidelines of the Polish Society of Colposcopy and Cervical Pathophysiology and the Polish Society of Gynaecologists and Obstetricians.

The Polish Society of Colposcopy and Cervical Pathophysiology and the Polish Society of Gynecologists and Obstetricians provide comprehensive guidelines for colposcopy practice in secondary cervical cancer prevention in Poland. This part of the guidelines, developed by the clinical experts of the Working Group No. 1 (WG1), concerns the colposcopy protocols with the main aim of algorithmizing the procedure, together with all procedure-related processes. The detailed analysis of strong scientific evidence and an extensive literature review of current international colposcopic recommendations were carried out, with also a broad investigation of recently ongoing dynamic changes in national health systems. The attention to colposcopic limitations also occurring in Polish conditions was kept. The overriding goal was the recommended obligatory minimal colposcopy approach introduction. To enhance the standard of colposcopy, adjustment of a precolposcopic assessment, a performance technique, types of used biopsies, as well as the procedure documentation was made. Elements of the risk-based stratification for the increased risk of developing cervical cancer was also included if it was applicable for that part of the guidelines. Comprehensive colposcopy guidelines are a step towards the ongoing era of a precision medicine in cervical cancer prevention in Poland.

HPV16 E6*II gene expression in intraepithelial cervical lesions as an indicator of neoplastic grade: a pilot study.

Integration of the HPV genome into a host cell DNA leads to the deregulated overexpression of the viral E6 and E7 oncoproteins, and this is a key factor for progression from low-grade cervical lesions to high-grade lesions and invasive cervical cancer. The aim of our study was to analyze the expression levels of HPV E6*I/E6*II and E7 genes in cervical neoplasia of different grades. The analysis involved 10 low-grade squamous intraepithelial lesions (CIN1), 15 high-grade lesions (CIN2 and CIN3), as well as normal cytology samples (n=10). HPV genotyping was done using RealLine HPV 16/18 kit. The expression analysis was performed in real-time PCR assay using gene-specific primers and SYBR Green. HPV16 DNA was found in 65.71% patients, including also normal cytology samples. The increased expression level of E6*I was observed in 12 (34.3%) patients. The expression of E6*II was increased in 10 (28.6%) samples, and E7 overexpression was found in 14 (40%) patients. Significant positive correlation was observed between the amount of HPV16 DNA and the levels of E6*I and E6*II expression. There were no statistically significant differences in expression levels of the studied genes between the groups (CIN1 vs. CIN2/CIN3 vs. normal cytology). Statistically significant differences were found in CIN2/CIN3 group, with the higher expression of E6*II as compared with E6*I. We suggest that the expression level of E6*II gene might be used as an indicator of cervical cancer severity, in patients with high-grade cervical neoplasia, but these observations need to be confirmed in a larger patient cohort.