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Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19
Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure
Failure of the human heart to maintain sufficient output of blood for the demands of the body, heart failure, is a common condition with high mortality even with modern therapeutic alternatives. To identify molecular determinants of mortality in patients with new-onset heart failure, we performed a meta-analysis of genome-wide association studies and follow-up genotyping in independent populations
The interplay between the surface and bottom water environment within the Benguela Upwelling System over the last 70 ka
The Benguela Upwelling System (BUS), located between 30 and 20°S, is one of the fundamental high-productivity systems of the world ocean. The BUS has previously been studied in terms of primary productivity and ecology over glacial-interglacial timescales; however, the response and coupling with the benthic environment have received little attention. Here, for the first time, we present a high-res
Strengthening the Reporting of Observational Studies in Epidemiology – nutritional epidemiology (STROBE-nut) : An extension of the STROBE statement
Concerns have been raised about the quality of reporting in nutritional epidemiology. Research reporting guidelines such as the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement can improve quality of reporting in observational studies. Herein, we propose recommendations for reporting nutritional epidemiology and dietary assessment research by extending the ST
Relationships between perceptual defence reactions and subjective tendencies in the phenomenal representation of facial displays of affect.
Screening for Prostate Cancer Starting at Age 50-54 Years. A Population-based Cohort Study
Background: Current prostate cancer screening guidelines conflict with respect to the age at which to initiate screening. Objective: To evaluate the effect of prostate-specific antigen (PSA) screening versus zero screening, starting at age 50-54 yr, on prostate cancer mortality. Design, setting, and participants: This is a population-based cohort study comparing 3479 men aged 50 yr through 54 yr r
A prospective evaluation of early detection biomarkers for ovarian cancer in the European EPIC cohort
PURPOSE: About 60% of ovarian cancers are diagnosed at late stage, when 5-year survival is less than 30% in contrast to 90% for local disease. This has prompted search for early detection biomarkers. For initial testing, specimens taken months or years before ovarian cancer diagnosis are the best source of information to evaluate early detection biomarkers. Here we evaluate the most promising ovar
The clinicopathological and gene expression patterns associated with ulceration of primary melanoma
Ulceration of primary melanomas is associated with poor prognosis yet is reported to predict benefit from adjuvant interferon. To better understand the biological processes involved, clinicopathological factors associated with ulceration were determined in 1804 patients. From this cohort, 348 primary tumor blocks were sampled to generate gene expression data using a 502-gene cancer panel and 195 b
Prediagnostic telomere length and risk of B-cell lymphoma-Results from the EPIC cohort study
Recent epidemiological investigations have reported on the association between telomere length (TL) and a number of malignancies, including B-cell lymphoma (BCL). The reported results for BCLs are however inconsistent. We carried out a nested case-control study to determine whether TL is associated with future risk of BCL. Using quantitative polymerase chain reaction, the relative TL (i.e. the rat
Dietary intake of acrylamide and epithelial ovarian cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.
Acrylamide, classified in 1994 by IARC as 'probably carcinogenic' to humans, was discovered in 2002 in some heat-treated, carbohydrate-rich foods. The association between dietary acrylamide intake and epithelial ovarian cancer risk (EOC) has been previously studied in one case-control and three prospective cohort studies which obtained inconsistent results, and could not further examine histologic
Prostate cancer, prostate cancer death, and death from other causes, among men with metabolic aberrations.
Few previous studies of metabolic aberrations and prostate cancer risk have taken into account the fact that men with metabolic aberrations have an increased risk of death from causes other than prostate cancer. The aim of this study was to calculate, in a real-life scenario, the risk of prostate cancer diagnosis, prostate cancer death, and death from other causes.
A single inlet two-stage acoustophoresis chip enabling tumor cell enrichment from white blood cells
Metastatic disease is responsible for most cancer deaths, and hematogenous spread through circulating tumor cells (CTC) is a prerequisite for tumor dissemination. CTCs may undergo epithelial–mesenchymal transition where many epithelial cell characteristics are lost. Therefore, CTC isolation systems relying on epithelial cell markers are at risk of losing important subpopulations of cells. Here, a
Cancer-associated Changes in the Expression of TMPRSS2-ERG, PCA3, and SPINK1 in Histologically Benign Tissue From Cancerous vs Noncancerous Prostatectomy Specimens.
To investigate whether messenger ribonucleic acid (mRNA) expression of TMPRSS2-ERG fusion gene, a suggested prostate cancer (PCa) biomarker, was specific to cancerous lesions alone and to study the expression of SPINK1 and PCA3 mRNAs in the same cohort to also explore the proposed mutual exclusivity of TMPRSS2-ERG and SPINK1 expression.
Metagenomic sequencing of "HPV-negative" condylomas detects novel putative HPV types.
Condylomas are caused by human papillomavirus (HPV), but may in rare cases be "negative for HPV" by PCR. Metagenomic sequencing can be used for an unbiased assessment of the presence of virus. Ten swab sample pools, each containing four cases of "HPV-negative" condylomas, were subjected to metagenomic sequencing. One pool contained Molluscum contagiosum. Five pools contained HPV, of which three po
Prognostic factors in lung cancer in a defined geographical area over two decades with a special emphasis on gender.
Introduction: Many studies over recent decades report an increasing incidence of lung cancer in female patients. Female gender is often reported as a good prognostic factor. Objectives: The aim of the present study was to investigate prognostic factors with a special emphasis on gender. Methods: During 1989-2008, 1497 patients in eastern Scania, a part of southern Sweden with 202 000 inhabitan
Factors affecting recall rate and false positive fraction in breast cancer screening with breast tomosynthesis - A statistical approach.
In this study, we investigate which factors affect the false positive fraction (FPF) for digital breast tomosynthesis (DBT) compared to digital mammography (DM) in a screening population by using classification and regression trees (C&RT) and binary marginal generalized linear models. The data was obtained from the Malmö Breast Tomosynthesis Screening Trial, which aimed to compare the performa
Oral contraceptive use, parity, and constitutional characteristics in soft tissue sarcoma: a Swedish population-based case-control study 1988-2009.
The study was designed to investigate the influence of surrogate factors associated with sex (SH) and growth hormones (GH) on the risk of developing soft tissue sarcomas (STS).
Tumor markers in prostate cancer I: Blood-based markers
The introduction of total prostate specific antigen (total PSA) testing in blood has revolutionized the detection and management of men with prostate cancer (PCa). The objective of this review was to discuss the challenges of PCa biomarker research, definition of the type of PCa biomarkers, the statistical considerations for biomarker discovery and validation, and to review the literature regardin
Direct deposition of gas phase generated aerosol gold nanoparticles into biological fluids - corona formation and particle size shifts.
An ongoing discussion whether traditional toxicological methods are sufficient to evaluate the risks associated with nanoparticle inhalation has led to the emergence of Air-Liquid interface toxicology. As a step in this process, this study explores the evolution of particle characteristics as they move from the airborne state into physiological solution. Airborne gold nanoparticles (AuNP) are gene
