Abstract:
BACKGROUND:Mutations in BRCA1 and BRCA2 genes are associated with family predisposition to breast and ovarian cancer. Novel screening methods are required for efficient and rapid detection of sequence variants in cancer patients and their family members. METHODS:The screening for variants in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 in Croatia was performed by a high-resolution melting approach, which is based on differences in melting curves caused by variations in nucleotide sequence. This is the first screening in Croatia on elderly healthy women with no family history of cancer. BRCA1 screening was performed on 220 and BRCA2 screening on 115 samples. RESULTS:In a population well beyond the average age of breast/ovarian cancer onset, 21 different sequence variants in the BRCA1 gene (one novel: c.5193+49_50delTA) and 36 variants in the BRCA2 gene (7 novel: c.459A>C, c.3318C>A, c.4412_ 4414delGAA, c.4790C>A, c.6264T>C, c.9087G>A, and c.9864A>G) were detected. CONCLUSIONS:Nine BRCA1 and seven BRCA2 known variants appeared with such high frequencies that they could be declared as harmless in this population. Eight BRCA1 high frequency variants, located further from the promoter region, appear to be strongly correlated. Three novel variants that changed the amino acid sequence of the BRCA2 protein (two missense base substitutions, c.3318C>A and c.4790C>A, and one codon deletion c.4412_4414delGAA), appearing only once, were predicted to have no potential effect on protein structure and function.
journal_name
Clin Chem Lab Medjournal_title
Clinical chemistry and laboratory medicineauthors
Cvok ML,Cretnik M,Musani V,Ozretic P,Levanat Sdoi
10.1515/CCLM.2008.307subject
Has Abstractpub_date
2008-01-01 00:00:00pages
1376-83issue
10eissn
1434-6621issn
1437-4331pii
10.1515/CCLM.2008.307journal_volume
46pub_type
杂志文章abstract:BACKGROUND:Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the measurement of breath hydrogen increase after a lactose load (breath hydrogen test, BHT). A substitution of C to T at position -13910 bp upstream the L...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.189
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:To prospectively evaluate the role of procalcitonin (PCT) in detecting or excluding medullary thyroid carcinoma (MTC) among patients with thyroid nodules and increased calcitonin (CT) levels. METHODS:Fourteen of 1236 patients referred for thyroid nodules had increased serum CT >10 pg/mL. A stimulation test ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0610
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2010.272
更新日期:2010-10-01 00:00:00
abstract::An increasing incidence of male infertility has been noted over the past few decades. This adds urgency to the need to develop immunohistochemical markers for better evaluation of testicular biopsies. We provide evidence that a histopathological evaluation performed according to morphological criteria and assisted by ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2002.036
更新日期:2002-03-01 00:00:00
abstract::Folate measurements, particularly for whole blood, show wide inter-laboratory and inter-methodology variability. This variability appears to be due in part to the lack of internationally accepted reference materials. A whole blood haemolysate, lyophilised in ampoules and designated 95/528, was therefore evaluated by 1...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2004.090
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND:Previous genomic linkage studies have produced evidence linking sodium-lithium countertransport activity (Na/Li CT) with various chromosomal regions including loci harbouring glutathione S transferase (GST) genes. The aim of this study was to examine the putative association of erythrocyte Na/Li CT activity ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.065
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:The Sysmex DI-60 system (DI-60, Sysmex, Kobe, Japan) is a new automated digital cell imaging analyzer. We explored the performance of DI-60 in comparison with Sysmex XN analyzer (XN, Sysmex) and manual count. METHODS:In a total of 276 samples (176 abnormal and 100 normal samples), white blood cell (WBC) dif...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2017-0132
更新日期:2017-11-27 00:00:00
abstract:BACKGROUND:Gestational age-specific reference values are essential for the accurate interpretation of haemostatic tests during pregnancy. METHODS:Our 1-year prospective study included 40 healthy pregnant women with a median age of 30 (range 22-40) years; the subjects were followed in order to establish the gestational...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-1030
更新日期:2015-11-01 00:00:00
abstract::Age-related macular degeneration (AMD) is a sight threatening eye disease that affects millions of humans over the age of 65 years. It is considered to be the major cause of irreversible blindness in the elderly population in the developed world. The disease is prevalent in Europe and the United States, which has a la...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2011.091
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Validation of blood collection tubes are important to determine the role of different collection tubes which influence the assurance of laboratory results. We compared two different tubes (Improvacuter™ and Becton Dickinson [BD] Vacutainer™) and investigated the effect of gel and storage time in comparison w...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0583
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Surface-enhanced laser desorption and ionization time-of-flight mass spectrometry (SELDI-TOF/MS), a laboratory-friendly technique, is used to identify biomarkers for cancer. The aim of the present study was to explore the application of SELDI proteomic patterns in serum for distinguishing between cases of pa...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2009.158
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Accurate outcome prediction in gastroesophageal malignancies is challenging. Acute-phase response proteins (APRPs) have been claimed to be independent prognosticators, although the basis for their association with prognosis remains unexplained. We hypothesized that, similarly to pancreatic and lung cancers, ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.089
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Cardiac troponins are considered the cornerstone for risk stratification and diagnosis of patients with acute coronary syndrome (ACS). Following Clinical Laboratory Standards Institute (CLSI) guidelines, we assessed the analytical performances of the Pathfast (Mitsubishi, Japan) cTnI method. METHODS:We eval...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2009.182
更新日期:2009-01-01 00:00:00
abstract::Background Quantification of plasma amino acids is key to the diagnosis of inherited defects of amino acid synthesis, catabolism and transport, many of which present as clinical emergencies. The utility of this test is limited by the long analysis time and subsequent inability of laboratories to provide results in rea...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0604
更新日期:2020-04-28 00:00:00
abstract:BACKGROUND:Query fever (Q fever) is a zoonotic infection, caused by the intracellular Gram-negative coccobacillus Coxiella burnetii. From 2007 until 2010, a large Q fever outbreak has occurred in the Netherlands. We studied traditional and less common inflammation markers in seronegative and seropositive patients with ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2011-0810
更新日期:2012-02-04 00:00:00
abstract:BACKGROUND:Lactase persistence is an inherited autosomal dominant trait that confers the ability to digest lactose after weaning. Lactose persistence is caused by single nucleotide variants in a regulatory element for the lactase gene (LCT). In Europeans, lactase persistence is associated with the nucleotide variant LC...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0123
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:The use of laboratory tests has been increasing in recent years due to various factors affecting laboratories, physicians, legal aspects, or patients themselves. METHODS:The efficacy of laboratory tests must be evaluated on the basis of the clinical benefits that they provide in terms of prevention, diagnos...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2009.335
更新日期:2009-01-01 00:00:00
abstract::Despite many years of study, clinical trials of new drugs to prevent thrombosis have often been disappointing. Part of the problem lies in our incomplete understanding of the regulation of plasminogen activation and/or inhibition in vivo. We have previously shown that in vitro nitration of plasminogen in plasma by per...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.039
更新日期:2006-01-01 00:00:00
abstract::Complexity, cost, and content are three important factors that can impede translation of clinical protein mass spectrometry (MS) tests at a larger scale. Complexity stems from the many components/steps involved in bottom-up protein MS workflows, making them significantly more complicated than enzymatic immunoassays (E...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0977
更新日期:2020-06-25 00:00:00
abstract:BACKGROUND:Soluble mesothelin-related protein (SMRP) is increased in the sera of patients with malignant mesothelioma (MM), and has been suggested as a diagnostic tool for MM in an asbestos exposed population. However, factors affecting SMRP concentrations in normal subjects and those with other asbestos related disord...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2010.165
更新日期:2010-06-01 00:00:00
abstract::Heart-type fatty acid-binding protein (H-FABP) is a low molecular weight cytoplasmic protein and present abundantly in the myocardium. When the myocardium is injured, as in the case of myocardial infarction, low molecular weight cytoplasmic proteins including H-FABP are released into the circulation and H-FABP is dete...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2000.034
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:The Enhanced Liver Fibrosis (ELF) score combining serum hyaluronan, N-terminal peptide of type III procollagen and tissue inhibitor of metalloproteinase-1, was reported as relevant in predicting liver fibrosis in chronic liver disease and proposed as an alternative to liver biopsy. METHODS:We evaluated the ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,多中心研究
doi:10.1515/cclm-2011-0858
更新日期:2012-01-13 00:00:00
abstract::Winning a Nobel Prize is a great personal achievement. Some Nobel laureates may consider that their award is a certificate of competence in any field. This may prompt them to undertake projects or accept positions which are beyond their capabilities. Since Nobels are awarded when the laureates have usually passed thei...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2013-0273
更新日期:2013-08-01 00:00:00
abstract:BACKGROUND:Apolipoprotein E (APOE) and choline acetyltransferase (ChAT) have been suggested as candidate genes for determining the risk of late-onset Alzheimer's disease. The aim of this study was to simultaneously detect polymorphisms in codons 112 and 158 of APOE and codon 2 of ChAT by hybridization probe multiplexin...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2007.075
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:The study aim was to evaluate and compare the analytical performance of the new chemiluminescent immunoassay for cardiac troponin I (cTnI), called Access hs-TnI using DxI platform, with those of Access AccuTnI+3 method, and high-sensitivity (hs) cTnI method for ARCHITECT platform. METHODS:The limits of blan...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2017-0387
更新日期:2018-02-23 00:00:00
abstract:BACKGROUND:Asymmetric dimethylarginine (ADMA), an endogenous competitive inhibitor of nitric oxide synthase plays an important role in endothelial dysfunction processes. Recent studies have linked high ADMA levels with several pathological conditions. The interest as a marker of endothelial dysfunction has increased in...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2011.691
更新日期:2011-09-06 00:00:00
abstract:BACKGROUND:EGFR mutation is an emerging biomarker for treatment selection in non-small-cell lung cancer (NSCLC) patients. However, optimal mutation detection is hindered by complications associated with the biopsy procedure, tumor heterogeneity and limited sensitivity of test methodology. In this study, we evaluated th...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2016-0851
更新日期:2017-10-26 00:00:00
abstract::Successful reduction of the risk of viral transmission via blood components has focused attention on the risk of transfusion-associated bacterial sepsis. The incidence of transfusion reactions due to bacteria is currently estimated at between 1 per 100,000 and 1 per 1,000,000 units in the case of packed red blood cell...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2008.151
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Despite remarkable advances in technology and laboratory automation, results of laboratory testing still suffer from a high degree of preanalytical variability. Although there is no definitive evidence, the use of small-gauge needles for venipuncture is usually discouraged to reduce the chance of producing u...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.172
更新日期:2006-01-01 00:00:00
abstract::Background Many of the mobile applications (apps) used for delivering health interventions involve laboratory medicine data. This survey was conducted to search the online market for health apps that manage laboratory medicine data. The aim was to review them and perform a quality evaluation. Methods Apps search crite...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2018-0710
更新日期:2019-02-25 00:00:00