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The HLA genes are associated with various autoimmune pathologies, with the control of the immune response also being significant in organs and cells transplantation. The aim of the study is to identify the HLA-A, HLA-B, and HLA-C alleles frequencies in the analyzed Romanian cohort. We performed HLA typing using next-generation sequencing (NGS) in a Romanian cohort to estimate class I HLA allele frequencies up to a six-digit resolution. A total of 420 voluntary donors from the National Registry of Voluntary Hematopoietic Stem Cell Donors (RNDVCSH) were included in the study for HLA genotyping. Peripheral blood samples were taken and brought to the Fundeni Clinical Institute during 2020–2021. HLA genotyping was performed using the Immucor Mia Fora NGS MFlex kit. A total of 109 different alleles were detected in 420 analyzed samples, out of which 31 were for HLA-A, 49 for HLA-B, and 29 for HLA-C. The most frequent HLA-A alleles were HLA-A*02:01:01 (26.11%), HLA-A*01:01:01 (12.5%), HLA-A*24:02:01 (11.67%), HLA-A*03:01:01 (9.72%), HLA-A*11:01:01, and HLA-A*32:01:01 (each with 8.6%). For the HLA-B locus, the most frequent allele was HLA-B*18:01:01 (11.25%), followed by HLA-B*51:01:01 (10.83%) and HLA-B*08:01:01 (7.78%). The most common HLA-C alleles were HLA-C*07:01:01 (17.36%), HLA-C*04:01:01 (13.47%), and HLA-C*12:03:01 (10.69%). Follow-up studies are ongoing for confirming the detected results. [ABSTRACT FROM AUTHOR]

Introduction. Since the beginning of the 1990s, with the discovery of the first “cancer genes”, numerous genetic factors have been identified through a great number of studies to be associated with the susceptibility for hereditary cancers. Hundreds of genes have been detected, with thousands of variants involved in the development of the disease. Next Generation Sequencing (NGS) technology has been the most important tool in cancer research and cancer diagnosis as well, during the past decades. Most of the laboratories worldwide use multigene NGS panels to identify the genetic causes or the genetic predisposition for cancer. Materials and method. NGS sequencing on an Illumina platform has been performed using multigene panels for the different types of cancer. The study included individuals tested during February-September 2021. Results. Apart from the BRCA1 and BRCA2 genes mutations, identified in the greater majority of cases, pathogenic variants in other genes, such as PALB2, CHEK2, MSH6, MLH1, ATM, NF1 etc., have been detected. The most frequent pathology identified in our cohort was breast cancer, followed by colorectal and ovarian cancers. Other types of cancer reported in these individuals were melanoma, cerebral tumors, pancreatic cancer, endocrine tumors, renal cancer, gastrointestinal tumors and prostate cancer. Conclusions. NGS panels are the test of choice for the diagnosis of the disease in hereditary cancer patients and for identifying the risk for developing the disease in healthy individuals. Both pre-testing and post-testing genetic counseling are of great importance for the selection of patients for genetic testing and for choosing the most eloquent genetic test for each individual in particular, and also for the clinical interpretation of the results, which in many cases may raise numerous problems and discussions. [ABSTRACT FROM AUTHOR]

Objectives: There is evidence that prostate cancer (PCa) has a genetic predisposition, multiple genome-wide associations studies evaluating the impact of common and rare markers in the etiology of PCa and early-onset PCa. In our study we performed a genome-wide association scan for early-onset prostate cancer in a cohort of genotyped hospital patients form Romania. Used methodology: The study consisted of 2024 hospital patients genotyped, 990 unrelated PCa cases histopathologically confirmed and with abnormal PSA levels, and 1034 controls consisting of patients admitted for urological and surgical conditions, excluding cancer. Conclusions: We found genome-wide significant evidence for variants on chromosomes 2 ,12 and 22. We also evaluated the association results for the whole-genome obtaining compelling evidence regarding the importance of common genetic variants to early-onset PCa in Romania. [ABSTRACT FROM AUTHOR]

Objectives: There is evidence that prostate cancer (PCa) has a genetic predisposition, multiple genome-wide associations studies evaluating the impact of common and rare markers in the etiology of PCa and early-onset PCa. In our study we performed a genome-wide association scan for early-onset prostate cancer in a cohort of genotyped hospital patients form Romania. Used methodology: The study consisted of 2024 hospital patients genotyped, 990 unrelated PCa cases histopathologically confi rmed and with abnormal PSA levels, and 1034 controls consisting of patients admitted for urological and surgical conditions, excluding cancer. Conclusions: We found genome-wide signifi cant evidence for variants on chromosomes 2 ,12 and 22. We also evaluated the association results for the whole-genome obtaining compelling evidence regarding the importance of common genetic variants to early-onset PCa in Romania. [ABSTRACT FROM AUTHOR]