232,800 results match your criteria genetic risk

Neuroendocrine and Adrenal Tumors, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

J Natl Compr Canc Netw 2021 Jul 28;19(7):839-868. Epub 2021 Jul 28.

7Vanderbilt-Ingram Cancer Center.

The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Neuroendocrine and Adrenal Gland Tumors focus on the diagnosis, treatment, and management of patients with neuroendocrine tumors (NETs), adrenal tumors, pheochromocytomas, paragangliomas, and multiple endocrine neoplasia. NETs are generally subclassified by site of origin, stage, and histologic characteristics. Appropriate diagnosis and treatment of NETs often involves collaboration between specialists in multiple disciplines, using specific biochemical, radiologic, and surgical methods. Read More

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The Future of Parallel Tumor and Germline Genetic Testing: Is There a Role for All Patients With Cancer?

J Natl Compr Canc Netw 2021 Jul 28;19(7):871-878. Epub 2021 Jul 28.

1Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.

Under the traditional paradigm of genetic testing in cancer, the role of germline testing was to assess for the inherited risk of cancer, whereas the role of tumor testing was to determine therapeutic selection. Parallel tumor-normal genetic testing uses simultaneous genetic testing of the tumor and normal tissue to identify mutations and allows their classification as either germline or somatic. The increasing adoption of parallel testing has revealed a greater number of germline findings in patients who otherwise would not have met clinical criteria for testing. Read More

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Congenital anomalies associated with ambient temperature variability during fetal organogenesis period of pregnancy: Evidence from 4.78 million births.

Sci Total Environ 2021 Jul 28;798:149305. Epub 2021 Jul 28.

School of Health Management, Southern Medical University, Guangzhou 510515, Guangdong Province, China. Electronic address:

Backgrounds: Evidence for the effects of temperature variability on risk of congenital anomalies is lacking. We aimed to examine the association of temperature variability during fetal organogenesis period (weeks 3-8 post-conception) with major congenital anomalies.

Methods: A retrospective cohort study comprising 4,787,356 singleton live-births and stillbirths in China was performed. Read More

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Use of Oral Contraceptives in Women with Congenital Long QT Syndrome.

Heart Rhythm 2021 Jul 27. Epub 2021 Jul 27.

Clinical Cardiovascular Research Center, Division of Cardiology, University of Rochester Medical Center, Rochester, NY.

Background: Use of oral contraceptives (OC) may modulate the clinical course of women with congenital long QT syndrome (LQTS). The safety of OC use by sex hormone content has not been assessed in LQTS women.

Objective: We aimed to evaluate the association of OC with the risk of cardiac events (CE) in LQTS women. Read More

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A Mendelian randomization study found causal linkage between telomere attrition and chronic kidney disease.

Kidney Int 2021 Jul 30. Epub 2021 Jul 30.

Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea; Kidney Research Institute, Seoul National University, Seoul, Korea. Electronic address:

Chronic kidney disease (CKD) is highly prevalent in the elderly population. However, it is rarely investigated whether kidney function is causally linked to biological aging itself. In this Mendelian randomization study, genetic instruments for telomere attrition were applied to a CKDGen genome wide association study results for 41,395 cases of CKD among 480,698 individuals as summary-level Mendelian randomization. Read More

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A novel 4-mRNA signature predicts the overall survival in acute myeloid leukemia.

Am J Hematol 2021 Aug 2. Epub 2021 Aug 2.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

Acute myeloid leukemia (AML) is an aggressive cancer of myeloid cells with high levels of heterogeneity and great variability in prognostic behaviors. Cytogenetic abnormalities and genetic mutations have been widely used in the prognostic stratification of AML to assign patients into different risk categories. Nevertheless, nearly half of intermediate-risk AML patients need more precise prognostic schemes. Read More

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Elevated plasma concentration of complement factor C5 is associated with risk of future venous thromboembolism.

Blood 2021 Aug 2. Epub 2021 Aug 2.

Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.

The role of complement in the pathogenesis of venous thromboembolism (VTE) is unclear. We aimed to (i) investigate whether plasma complement component C5 levels are influenced by genetic variants or chronic inflammation, and (ii) investigate the association between plasma C5 and risk of future VTE in a nested case-control study with 415 VTE patients and 848 age- and sex-matched controls derived from the Tromsø study. Plasma C5 levels were measured at inclusion. Read More

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Associations between Apolipoprotein E Gene Polymorphism, Diet and Dyslipidemia in a Yao Minority Area, China.

J Am Coll Nutr 2021 Aug 2:1-7. Epub 2021 Aug 2.

Department of Environmental and Occupational Health, School of Public Health, Guangxi Medical University, Nanning, PR China.

Objective: This study aimed to assess the effects of Apolipoprotein E () gene polymorphisms, dietary nutrient intake, and their interactions on the prevalence of dyslipidemia in a Yao minority area, China.

Methods: rs429358, rs7412, rs7259620, and rs405509 of the gene were genotyped in 1014 adults aged ≥30 years by using the MassArray system. Dietary nutrients intake data were ascertained from a 109-item food frequency questionnaire (FFQ). Read More

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Melatonin Increases Life Span, Restores the Locomotor Activity, and Reduces Lipid Peroxidation (LPO) in Transgenic Knockdown Parkin Drosophila melanogaster Exposed to Paraquat or Paraquat/Iron.

Neurotox Res 2021 Aug 2. Epub 2021 Aug 2.

Neuroscience Research Group, Medical Research Institute, Faculty of Medicine, University of Antioquia (UdeA), Calle 70 No. 52-21, and Calle 62 # 52-59, Building 1, Room 412, SIU Medellin, Colombia.

Parkinson's disease (PD) is a complex progressive neurodegenerative disorder involving impairment of bodily movement caused by the specific destruction of dopaminergic (DAergic) neurons. Mounting evidence suggests that PD might be triggered by an interplay between environmental neurotoxicants (e.g. Read More

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Predictive factors for distant recurrence of colorectal cancer in patients after curative resection for stage I-III colorectal cancer in Australia.

Langenbecks Arch Surg 2021 Aug 2. Epub 2021 Aug 2.

Department of Colorectal Surgery, Alfred Hospital, 55 Commercial Road, Melbourne, VIC, 3004, Australia.

Purpose: Distant recurrence is a devastating occurrence after colorectal cancer resection. This study aimed to identify the risk factors for distant recurrence following surgery.

Methods: All consecutive colorectal cancer resections with curative intent were included from a prospectively maintained colorectal cancer database. Read More

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Simplifying prediction of disease progression in pre-symptomatic type 1 diabetes using a single blood sample.

Diabetologia 2021 Aug 2. Epub 2021 Aug 2.

Department of Population Health and Immunity, Walter and Eliza Hall Institute, Parkville, VIC, Australia.

Aims/hypothesis: Accurate prediction of disease progression in individuals with pre-symptomatic type 1 diabetes has potential to prevent ketoacidosis and accelerate development of disease-modifying therapies. Current tools for predicting risk require multiple blood samples taken during an OGTT. Our aim was to develop and validate a simpler tool based on a single blood draw. Read More

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Genome-wide association study identifies 18 novel loci associated with left atrial volume and function.

Eur Heart J 2021 Jul 29. Epub 2021 Jul 29.

Laboratory for Molecular Cardiology, Department of Cardiology, Heart Centre, Rigshospitalet, University Hospital of Copenhagen, Henrik Harpestrengs Vej 4C, 2100 Copenhagen, Denmark.

Aims : Left atrial (LA) volume and function impose significant impact on cardiovascular pathogenesis if compromised. We aimed at investigating the genetic architecture of LA volume and function using cardiac magnetic resonance imaging data.

Methods And Results : We used the UK Biobank, which is a large prospective population study with available phenotypic and genetic data. Read More

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Mammographic features are associated with cardiometabolic disease risk and mortality.

Eur Heart J 2021 Aug 2. Epub 2021 Aug 2.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Nobels väg 12A, Stockholm 171 65, Sweden.

Aims: In recent years, microcalcifications identified in routine mammograms were found to be associated with cardiometabolic disease in women. Here, we aimed to systematically evaluate the association of microcalcifications and other mammographic features with cardiometabolic disease risk and mortality in a large screening cohort and to understand a potential genetic contribution.

Methods And Results: This study included 57 867 women from a prospective mammographic screening cohort in Sweden (KARMA) and 49 583 sisters. Read More

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Association of rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis.

Ophthalmic Genet 2021 Aug 2:1-6. Epub 2021 Aug 2.

Medical Academy, Neuroscience Institute, Lithuanian University of Health Sciences, Kaunas, Lithuania.

Optic neuritis (ON) is demyelinating acute inflammatory disease which affects the optic nerve. ON is classified as a typical (demyelinating) or an atypical (idiopathic). Patients often complain having a periocular pain or a visual loss. Read More

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Contemporary etiology and prognosis of dilated non-ischemic cardiomyopathy.

Minerva Cardiol Angiol 2021 Aug 2. Epub 2021 Aug 2.

Department of Cardiology, Azienda Sanitaria Universitaria Integrata Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy.

Introduction: Non-ischemic dilated cardiomyopathy (NI-DCM) represents a specific etiology of systolic heart failure that usually affect young individuals with a genetic background in up to 40% of cases. Behind the term NI-DCM there is a spectrum of different diseases, and an accurate etiological classification appears pivotal for the clinical management and prognostic stratification of these patients.

Evidence Acquisition: In the last years the prognosis of NI-DCM patients dramatically improved thanks to the progresses in medical treatment/ device therapy and earlier diagnosis especially in familial context. Read More

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Surgical management of BRCA pathogenic variant carriers with breast cancer: a recent literature review and current state of the art.

Minerva Surg 2021 Aug 2. Epub 2021 Aug 2.

Dipartimento di Scienze Mediche e Chirurgiche, Università Cattolica del Sacro Cuore, Rome, Italy.

Introduction: Surgical management of breast cancer patients carrying pathogenic variants (PV) on breast cancer genes (BRCA) 1 and 2 has changed throughout the last decade due to growing availability of genetic testing, and has shifted towards the diffusion of bilateral mastectomy. Today's scenario however is in further evolution because of emerging data that suggest a personalized modulation of treatment. In this work we aimed to gather recent evidence supporting a prophylactic or conservative surgical approach in order to define the state of the art in today's treatment of BRCA carriers with breast cancer. Read More

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HLA genetic polymorphism in patients with Coronavirus Disease 2019 in Midwestern United States.

HLA 2021 Aug 2. Epub 2021 Aug 2.

Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.

The experience of individuals with Coronavirus Disease 2019 (COVID-19) ranges from asymptomatic to life threatening multi-organ dysfunction. Specific HLA alleles may affect the predisposition to severe COVID-19 due to their role in presenting viral peptides to launch the adaptive immune response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). In this population-based case-control study in the midwestern United States, we performed high-resolution HLA typing of 234 cases hospitalized for COVID-19 in the St. Read More

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Longitudinal clinical trajectory analysis of individuals before and after diagnosis of Type 2 Diabetes Mellitus (T2DM) indicates that vascular problems start early.

Int J Clin Pract 2021 Aug 2:e14695. Epub 2021 Aug 2.

Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, UK.

Introduction: Type 2 diabetes mellitus (T2DM) frequently associates with increasing multi-morbidity/treatment complexity. Some headway has been made to identify genetic and non-genetic risk factors for T2DM. However longitudinal clinical histories of individuals both before and after diagnosis of T2DM are likely to provide additional insight into both diabetes aetiology/further complex trajectory of multi-morbidity. Read More

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Association and epistatic analysis of white matter related genes across the continuum schizophrenia and autism spectrum disorders: The joint effect of NRG1-ErbB genes.

World J Biol Psychiatry 2021 Aug 2:1-11. Epub 2021 Aug 2.

Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.

Background: Schizophrenia-spectrum disorders (SSD) and Autism spectrum disorders (ASD) are neurodevelopmental disorders that share clinical, cognitive, and genetic characteristics, as well as particular white matter (WM) abnormalities. In this study, we aimed to investigate the role of a set of oligodendrocyte/myelin-related (OMR) genes and their epistatic effect on the risk for SSD and ASD.

Methods: We examined 108 SNPs in a set of 22 OMR genes in 1749 subjects divided into three independent samples (187 SSD trios, 915 SSD cases/control, and 91 ASD trios). Read More

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BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion.

HGG Adv 2021 Jul 12;2(3). Epub 2021 Jun 12.

Framingham Heart Study, Framingham, MA, USA.

Whole-genome sequencing (WGS) and whole-exome sequencing studies have become increasingly available and are being used to identify rare genetic variants associated with health and disease outcomes. Investigators routinely use mixed models to account for genetic relatedness or other clustering variables (e.g. Read More

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Genetic Susceptibility for Low Testosterone in Men and Its Implications in Biology and Screening: Data from the UK Biobank.

Eur Urol Open Sci 2021 Jul 25;29:36-46. Epub 2021 May 25.

Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL, USA.

Background: Despite strong evidence of heritability, few studies have attempted to unveil the genetic underpinnings of testosterone levels.

Objective: To identify testosterone-associated loci in a large study and assess their biological and clinical implications.

Design Setting And Participants: The participants were men from the UK Biobank. Read More

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as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies.

Eur Urol Open Sci 2021 Jun 24;28:26-35. Epub 2021 Apr 24.

Radboud Institute for Molecular Life Sciences, Division of Pediatric Urology, Department of Urology, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.

Background: Posterior urethral valves (PUVs) and ureteropelvic junction obstruction (UPJO) are congenital obstructive uropathies that may impair kidney development.

Objective: To identify genetic variants associated with kidney injury in patients with obstructive uropathy.

Design Setting And Participants: We included 487 patients born in 1981 or later who underwent pyeloplasty or valve resection before 18 yr of age in the discovery phase, 102 PUV patients in a first replication phase, and 102 in a second replication phase. Read More

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The Use of Urine Complex Polymerase Chain Reaction as a Predictive Factor for Recurrence and Progression After Intravesical Bacillus Calmette-Guérin Therapy in Patients with Non-muscle‑invasive Bladder Cancer.

Eur Urol Open Sci 2021 May 11;27:10-18. Epub 2021 Mar 11.

Department of Urology, Juntendo University School of Medicine, Tokyo, Japan.

Background: Intravesical bacillus Calmette-Guérin (BCG) instillation is a standard treatment for non-muscle-invasive bladder cancer (NMIBC); however, not all patients benefit from BCG therapy. Currently, no surrogate marker exists to predict BCG efficacy, and thereby, identify patients who will benefit from this treatment.

Objective: To evaluate the utility of urine complex polymerase chain reaction (MTC-PCR) assay as a predictive marker for recurrence and progression following BCG therapy. Read More

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Second Primary Cancers After Kidney Cancers, and Kidney Cancers as Second Primary Cancers.

Eur Urol Open Sci 2021 Feb 9;24:52-59. Epub 2021 Jan 9.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Background: Second primary cancers (SPCs) are increasing due to improving survival in first primary cancers. Previous studies on SPCs in renal cell carcinoma (RCC) have focused on treatment and other risk factors, but data of RCC as an SPC are scarce.

Objective: In this study, we want to elucidate the risk for any SPC after RCC, and in reverse order, for RCC as an SPC after any cancer. Read More

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February 2021

The STHLM3-model, Risk-based Prostate Cancer Testing Identifies Men at High Risk Without Inducing Negative Psychosocial Effects.

Eur Urol Open Sci 2021 Feb 7;24:43-51. Epub 2021 Jan 7.

Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.

Background: The new STHLM3 test, combining protein markers, genetic markers, and clinical data to assess a man's prostate cancer (PCa) risk, has been investigated in Sweden within the frame of the STHLM3 trial.

Objective: To assess whether the STHLM3 test influences men's worry level, PCa knowledge, attitude, and health-related quality of life (HRQoL).

Design Setting And Participants: Invitations with login to the web survey were mailed to 10 000 men, 50-69 yr of age, who were eligible for the STHLM3 trial. Read More

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February 2021

infection in cattle and humans in Ethiopia: A systematic review and meta-analysis.

Parasite Epidemiol Control 2021 Aug 13;14:e00219. Epub 2021 Jul 13.

Department of Veterinary Epidemiology and Public Health, College of Veterinary Medicine and Animal Sciences, University of Gondar, Gondar, Ethiopia.

is an intracellular coccidian parasite causing gastrointestinal disturbances resulting in diarrhoea in humans and animals. It is more frequently detected in calves and early childhood, and one of the major causes of mortality in low-income countries. National estimates of infection rate in cattle and humans are lacking in Ethiopia. Read More

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Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD.

Alzheimers Dement (Amst) 2021 28;13(1):e12225. Epub 2021 Jul 28.

Departments of Neurology and Psychiatry Frontotemporal Disorders Unit and Alzheimer's Disease Research Center Boston Massachusetts USA.

Introduction: The decision to undergo genetic testing for familial frontotemporal dementia (fFTD) is challenging and complex. When counseling individuals, clinicians need to know what individuals understand about the type of fFTD for which they may be at elevated risk. Unfortunately, no tools to measure understanding of fFTD exist, and no study has investigated knowledge gain from fFTD genetic counseling. Read More

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Association of the Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations.

J Immunol Res 2021 13;2021:7079359. Epub 2021 Jul 13.

Nephrology Hospital, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Henan 4500052, China.

A recent genome-wide association study (GWAS) of Asian ancestry reported that single nucleotide polymorphism (SNP) in (telomerase reverse transcriptase) was associated with systemic lupus erythematosus (SLE). TERT has a critical role in maintaining the chromosomal stability and the length of telomere. Given that only a small portion of the genetic heritability of SLE has been explained so far, we aimed to identify novel loci in telomere-related genes responsible for SLE susceptibility in Chinese populations. Read More

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Dysregulation of lncRNA in -Infected Gastric Cancer Cells.

Biomed Res Int 2021 9;2021:6911734. Epub 2021 Jul 9.

Drug Applied Research Center, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

() infection is the most common cause of gastric cancer (GC). This microorganism is genetically diverse; GC is caused by several genetic deregulations in addition to environmental factors and bacterial virulence factors. lncRNAs (long noncoding RNAs) are significant biological macromolecules in GC, have specific functions in diseases, and could be therapeutic targets. Read More

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Contribution of Congenital Heart Disorders Associated With Copy Number Variants in Mediating Risk for Brain Developmental Disorders: Evidence From 20-Year Retrospective Cohort Study.

Front Cardiovasc Med 2021 15;8:655463. Epub 2021 Jul 15.

Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom.

Rare pathogenic copy number variants (CNVs) are genetic rearrangements that have been associated with an increased risk for congenital heart disorders (CHDs). However, the association of CNVs with atypical brain development, leading to neurodevelopmental disorders (NDDs), in the presence of CHDs remains unclear. We attempted to explore this association by establishing the prevalence and burden of CNVs associated with CHD in a Welsh population and by studying the effect of rare CNVs associated with CHDs in mediating the risk of NDDs. Read More

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