The occurrence of ovarian cancer in the population of urban and rural women, BRCA1 and BRCA2 genes mutation testing and the general rules on the patient’s consent to treatment

Introduction. The BRCA1 and BRCA2 genes belong to suppressor genes that control the mechanisms of repairing various damages of the DNA double helix, regulate cell division, and the cell cycle. Mutations within these genes are associated with the hereditary ovarian and breast cancers. Aim. Assessment of the frequency of testing BRCA1 and BRCA2 gene mutation in the population of women living in urban and rural environments with diagnosed ovarian cancer. Material and methods. The study was conducted among 300 women seeking treatment or consulting a doctor from the Wielkopolska Oncology Center in Poznań, and patients treated in a home hospice in the Rawicz district in Wielkopolska province over the period 2016-2018. Results. Among the respondents, the most were women aged from 36 to 40 (53.3%). The age of developing ovarian cancer for the women from cities is between 41 and 45. In the vast majority of women, i.e. 247 (82.3%), epithelial cancer was diagnosed. A marker that could indicate ovarian cancer, i.e. CA 125 antigen, was determined in more than half of 165 (55.0%). However, only in a few cases, in a total of 25 (8.3%) patients a test confirming the presence of BRCA1 and BRCA2 gene mutation was performed. Conclusions. The possibility of testing for BRCA1 and BRCA2 gene mutation in all sick women and their closest family should be considered. Regardless of the age of women, it is important to raise awareness of the risk of ovarian cancer, encourage them to keep regular medical appointments, and perform diagnostic tests.

3D And 2D RNA Structure Prediction Of The BRCA2 Gene And Its Silencing RNA In The Breast Cancer

<p><em>Breast cancer is one of the most threatening diseases for women. It is found that BRCA2 gene plays a significant role in breast cancer, provided that mutations occurred. The objective of this </em><em>study</em><em> is to determine whether the bioinformatics approach could provide</em><em> the</em><em> gene networking, molecular simulation, and computational metabolomics information to </em><em>shed</em><em> the relation between BRCA2 gene mutation with </em><em>b</em><em>reast cancer progression. The methods are utilizing molecular simulation tools to comprehend the biochemical interaction of BRCA2 gene with other </em><em>oncogenic </em><em>genes. Lastly, the molecular docking tool is devised to provide </em><em>the </em><em>molecular interactions information. </em><em>I</em><em>t could be implied that the Computer-Aided Drug Design (CADD)-based in silico transcriptomics tools could provide </em><em>the </em><em>fine-grained information on the exact role of BRCA2 gene in the progression of breast cancer. The clinical impact of this </em><em>study</em><em> could only be measured after the wet laboratory experiment is conducted to validate the computational approach</em><em> results</em></p>

Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family

Approximately 10% of all breast cancer (BC) cases are familial and caused by inheritance of mutant BRCA1, BRCA2, or some other genes from the same DNA reparation pathway. Genetic counseling in families with cancer history is a powerful means for early cancer detection and active risk reduction through preventive interventions. This is the first report of the rare inherited BRCA2 frameshift-deletion mutation c.3847_3848delGT in one Lithuanian pedigree with the intense familial history of BC. Three BRCA2-positive blood relatives with BC of different biological types were identified in this pedigree with the same type mutation. All three cases were diagnosed with advanced stage ductal carcinoma. Markedly, polymorphic cells and numerous mitoses were identified in BC from the cases. Two patients from the family were diagnosed with the triple negative tumors, while one case had early onset of the hormone positive BC. Despite the variation in clinical and biological presentation of BC, all cases showed a good response to conventional treatment. In conclusion, the strong influence of BRCA2 mutation on the onset of BC of various biological types reveals the complexity of genetic counselling in families with BC history.