Polygenic Risk Score Predicts Modified Risk in Pathogenic Variant c.4035del and c.5266dup Carriers in Breast Cancer Patients.

The aim of this study was to assess the power of the polygenic risk score (PRS) in estimating the overall genetic risk of women carrying germline pathogenic variants (PVs) c.4035del or c.5266dup to develop breast (BC) or ovarian cancer (OC) due to additional genetic variations.

Correction: Effectiveness of Secondary Risk-Reducing Strategies in Patients With Unilateral Breast Cancer With Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery: Evidence-Based Simulation Study.

[This corrects the article DOI: .].

Effectiveness of Secondary Risk-Reducing Strategies in Patients With Unilateral Breast Cancer With Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery: Evidence-Based Simulation Study.

Background: Approximately 62% of patients with breast cancer with a pathogenic variant (BRCA1 or BRCA2) undergo primary breast-conserving therapy.

Objective: The study aims to develop a personalized risk management decision support tool for carriers of a pathogenic variant (BRCA1 or BRCA2) who underwent breast-conserving therapy for unilateral early-stage breast cancer.

Methods: We developed a Bayesian network model of a hypothetical cohort of carriers of BRCA1 or BRCA2 diagnosed with stage I/II unilateral breast cancer and treated with breast-conserving treatment who underwent subsequent second primary cancer risk-reducing strategies.

Prevalence of spp. Infection in Pediatric Patients Hospitalized with Gastroenteritis in Latvia between 2020 and 2021.

Purpose: species are emerging human enteric pathogens. However, there is no systematic analysis of infection in the pediatric population in Latvia. The aim of the study was to describe potential sources, prevalence of infection, associated virulence factors and antimicrobial resistance of spp.

Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.

Background: While BRCA1/2 gene mutational spectrum and clinical features are widely studied, there is limited data on breast cancer-predisposing non-BRCA pathogenic/likely pathogenic variants (PV/LPVs) in the Baltic states region. According to previous studies, CHEK2 is the most frequent moderate-risk breast cancer predisposition gene. The study aimed to analyse the frequency and mutational spectrum of CHEK2 PV/LPVs in the Baltic states region and perform a literature review on the subject.

Urinary organic acids spectra in children with altered gut microbiota composition and autistic spectrum disorder.

Alteration of human gut microbiota is described in a number of neuro-developmental and cognitive disorders including autistic spectrum disorder (ASD). Along with the changes in the gut microbiota, children with ASD are also reported to have changes in urinary organic acid spectra implying these metabolites as potential biomarkers for gastrointestinal dysbiosis. Identify urinary metabolites that would indicate specific changes in the gut microbiota and could be useful as biomarkers.

Can We Predict Differentiated Thyroid Cancer Behavior? Role of Genetic and Molecular Markers.

Thyroid cancer is ranked in ninth place among all the newly diagnosed cancer cases in 2020. Differentiated thyroid cancer behavior can vary from indolent to extremely aggressive. Currently, predictions of cancer prognosis are mainly based on clinicopathological features, which are direct consequences of cell and tissue microenvironment alterations.

Hypercalcemia and CYP24A1 Gene Mutation Diagnosed in the 2nd Trimester of a Twin Pregnancy: A Case Report.

BACKGROUND Loss-of-function mutations of the CYP24A1 gene cause a deficiency of the CYP24A1 enzyme, which is involved in the catabolism of 1,25-dihydroxyvitamin D3. Patients who are CYP24A1 enzyme deficient are at increased risk of developing hypercalcemia during pregnancy and should avoid additional vitamin D supplementation. This case report provides additional information for managing and diagnosing patients with a CYP24A1 gene mutation.

A framework for validating AI in precision medicine: considerations from the European ITFoC consortium.

Background: Artificial intelligence (AI) has the potential to transform our healthcare systems significantly. New AI technologies based on machine learning approaches should play a key role in clinical decision-making in the future. However, their implementation in health care settings remains limited, mostly due to a lack of robust validation procedures.

Ultrasound guided needle biopsy of axilla to evaluate nodal metastasis after preoperative systemic therapy in cohort of 106 breast cancers enriched with BRCA1/2 pathogenic variant carriers.

Background: Aim of the study is to evaluate the role of ultrasound guided fine needle aspiration cytology (FNAC) in the restaging of node positive breast cancer after preoperative systemic therapy (PST).

Methods: From January 2016 - October 2020 106 node positive stage IIA-IIIC breast cancer cases undergoing PST were included in the study. 18 (17 %) were carriers of pathogenic variant in BRCA1/2.

Bladder cancer trends in Latvia during 1990-2017: incidence, mortality, and survival rates.

Introduction: The aim of this article was to evaluate bladder cancer (BC) incidence, mortality and survival trends in Latvia over the past 28 years.

Material And Methods: Our study included patients diagnosed with BC between 1990 and 2017. The data were obtained from the national population-based cancer registry.

The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants.

BACKGROUND The nuchal translucency measurement is the major focus of an early fetal ultrasound scan, with the goal to identify various inherited conditions, such as chromosomal aberrations and others. The diagnostic strategy for fetuses with increased nuchal translucency and normal karyotype is not clearly defined and may vary between countries. CASE REPORT We describe 2 cases of Noonan syndrome diagnosed prenatally by ultrasound scanning and genetic testing.

X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases.

X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency. Affected individuals usually present with the Epstein-Barr virus infection and have no apparent disease prior to presentation. The most common clinical manifestations are fulminant infectious mononucleosis, dysgammaglobulinaemia, and lymphoma (usually of B-cell origin).

Pathogenic Variants in Latvian Familial Adenomatous Polyposis Patients.

Familial adenomatous polyposis is one of the -associated polyposis conditions described as genetically predetermined colorectal polyposis syndrome with a variety of symptoms. The purpose of this study was to determine sequence variants of the gene in patients with familial adenomatous polyposis (FAP) phenotype and positive or negative family history. Eight families with defined criteria of adenomatous polyposis underwent molecular genetic testing.

Allelic variants of breast cancer susceptibility genes and in the Latvian population.

Background: Large-scale case control studies revealed a number of moderate risk - low frequency breast cancer alleles of the and genes. Some of these were reported as founder variants of Central and Eastern Europe. Based on highly similar founder variant spectra of the in Poland and Latvia, we decided to test the frequency of other common variants of moderate breast cancer risk - c.

An Effect of Culture Media on Epithelial Differentiation Markers in Breast Cancer Cell Lines MCF7, MDA-MB-436 and SkBr3.

Cell culture is one of the mainstays in the research of breast cancer biology, although the extent to which this approach allows to preserve the original characteristics of originating tumor and implications of cell culture findings to real life situations have been widely debated in the literature. The aim of this study was to determine the role of three cell culture media on transcriptional expression of breast cancer markers in three breast cancer reference cell lines (MCF7, SkBr3 and MDA-MB-436). : Cell lines were conditioned in three studied media (all containing 5% fetal bovine serum (FBS) + hormones/growth factors; different composition of basal media) for four passages.

Presence of Methicillin-resistant in Slaughterhouse Environment, Pigs, Carcasses, and Workers.

Introduction: Methicillin-resistant (MRSA) is a highly resistant and difficult to cure zoonotic microorganism, which makes up a large part of food toxic infections and has shown high prevalence among pig population all over the world. The aim of the study was to establish the occurrence of MRSA in slaughterhouses, evaluate its antimicrobial resistance, and verify whether there are any differences or similarities with reference to other European countries.

Material And Methods: A total of 100 pigs, 105 carcasses, 19 workers, and 24 samples from the environment of several slaughterhouses were examined by conventional microbial and molecular methods.

Platinum-based neoadjuvant chemotherapy in BRCA1-positive breast cancer: a retrospective cohort analysis and literature review.

Background: There is increasing evidence of high platinum sensitivity in -associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based chemotherapy for BRCA1-positive breast cancer in a neoadjuvant setting.

MRSA in Pig Population.

Methicillin resistant Staphylococcus aureus (MRSA) is widespread worldwide in different types of animal species and as a zoonosis takes a great risk for human health not only as a food toxicoinfection, but also as a highly resistant pathogen causing serious soft tissue infectious, septicaemia and even death. One of the most affected food-producing animal species is swine in the production of which new antibiotics in big amounts are used more and more continuously, increasing antimicrobial resistance. In this study several commercial pig farms and pigs with different age groups as well as farm workers and samples from environment were examined with the purpose of detecting MRSA prevalence and evaluating antimicrobial resistance.

Chromothripsis and progression-free survival in metastatic colorectal cancer.

Metastatic dissemination of the primary tumor is the major cause of death in colorectal cancer (CRC) patients. Multiple chromosomal breaks and chromothripsis, a phenomenon involving multiple chromosomal fragmentations occurring in a single catastrophic event, are associated with cancer genesis, progression and developing of metastases. The aim of this study was to evaluate the effect of chromothripsis and total breakpoint count (breakpoint instability index) on progression-free survival (PFS).

Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia.

The continued identification of new low-penetrance genetic variants for colorectal cancer (CRC) raises the question of their potential cumulative effect among compound carriers. We focused on 6 SNPs (rs380284, rs4464148, rs4779584, rs4939827, rs6983267, and rs10795668), already described as risk markers, and tested their possible independent and combined contribution to CRC predisposition. Material and Methods.

High expression of miR-214 is associated with a worse disease-specific survival of the triple-negative breast cancer patients.

Background: Hereditary triple-negative breast cancer patients have better recurrence-free survival than triple-negative sporadic ones. High expression of some of the miRNAs is related to worse overall and disease-free survival of triple-negative breast cancer patients. The attempt to associate expression level of some miRNA in triple-negative hereditary and sporadic breast cancers to disease specific survival was performed in this study.

Prostate cancer trends in Latvia during 1990-2012: incidence, prevalence, mortality, and survival rates.

Background And Objective: Prostate cancer (PCa) is one of the most common form of cancer in males worldwide. One of the highest PCa-related mortality rates in the world is observed in Latvia.

Materials And Methods: Our study included male patients diagnosed with PCa between 1990 and 2012.

Telomere length in Chernobyl accident recovery workers in the late period after the disaster.

The outcome of the Chernobyl nuclear power plant (CNPP) accident was that a huge number of people were exposed to ionizing radiation. Previous studies of CNPP clean-up workers from Latvia revealed a high occurrence of age-associated degenerative diseases and cancer in young adults, as well as a high mortality as a result of cardiovascular disorders at age 45-54 years. DNA tandem repeats that cap chromosome ends, known as telomeres, are sensitive to oxidative damage and exposure to ionizing radiation.

Prognostic role of mutation in patients with triple-negative breast cancer.

Triple-negative breast cancer (TNBC) is proposed to be an immunohistochemical surrogate of the basal-like breast cancer subtype. In spite of the relative chemosensitivity of this cancer subtype, it is characterized by aggressive clinical behavior; therefore, a further subclassification of TNBC is required to develop new targeted treatment. In previous studies, a strong correlation between mutation-associated tumors and TNBC has been identified.