Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings.

abstract：:Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by high absorption of iron by the gastrointestinal tract leading to a toxic accumulation of iron in various organs and impaired organ function. Three variants in the HFE gene (p.C282Y, p.H63D, and p.S65C) are commonly associated with...

journal_title：Genetic testing and molecular biomarkers

authors： Sumner K,Hubley L,Pont-Kingdon G,Mitchell S,Wayman T,Wilson A,Meadows C,Elenitoba-Johnson K,Pattison D,Dobrowolski S,Best H,Lyon E

更新日期：2012-07-01 00:00:00

abstract：OBJECTIVES:Somatic mutations in mediator complex subunit 12 (MED12) have emerged as a critical genetic change in the development of uterine leiomyomas. Studies, however, have focused largely on cohorts consisting of Caucasian patients. In this study, uterine leiomyomas from Chinese patients were examined for MED12 muta...

journal_title：Genetic testing and molecular biomarkers

authors： Wang H,Ye J,Qian H,Zhou R,Jiang J,Ye L

更新日期：2015-03-01 00:00:00

abstract：OBJECTIVES:We aimed to investigate the influence of ulinastatin (UTI) on the serum levels of C-reactive protein (CRP), interleukin 6 (IL-6), and tumor necrosis factor alpha (TNF-α) in Asian patients with acute pancreatitis (AP) by performance of a meta-analysis. METHODS:Two investigators independently searched 11 data...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang C,Wang Y,Fu W,Zhang W,Wang T,Qin H

更新日期：2016-03-01 00:00:00

abstract：: Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of thr...

journal_title：Genetic testing and molecular biomarkers

authors： Bilal M,Hayat A,Umair M,Ullah A,Khawaja S,Malik E,Burmeister M,Bibi N,Umm-E-Kalsoom,Memon MI,Basit S,Ahmad W,Khan B

更新日期：2020-09-01 00:00:00

abstract：: Aims: To investigate the expression levels of serum interleukin-17 (IL-17) and interleukin-27 (IL-27) in children with bronchial asthma and to correlate these expression levels with lung function indicators. Methods: A total of...

journal_title：Genetic testing and molecular biomarkers

authors： Liu Z,Niu C,Ying L,Zhang Q,Long M,Fu Z

更新日期：2020-01-01 00:00:00

abstract：: Aims: To investigate the possible roles of the single nucleotide polymorphisms (SNPs) MATN3 (rs77245812) and DOT1L (rs12982744) with susceptibility to knee osteoarthritis (KOA) among mestizos from the northeast region of Mexico. In addition, we analyzed the relationship of...

journal_title：Genetic testing and molecular biomarkers

authors： García-Alvarado FJ,Delgado-Aguirre HA,Rosales-González M,González-Martínez MDR,Ruiz-Flores P,González-Galarza FF,Arellano Perez Vertti RD

更新日期：2020-02-01 00:00:00

abstract：:A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both ...

journal_title：Genetic testing and molecular biomarkers

authors： Vásquez-Velásquez AI,Torres-Flores J,Leal CA,Rivera H

更新日期：2011-10-01 00:00:00

abstract：: Background: Recent discoveries indicate that the enzyme fatty acid 2-hydroxylase (FA2H) is associated with biological behavior and can be used for outcome prediction in several types of cancers. Such relevancy, however, between FA2H and ovarian cancer is not clear. Therefo...

journal_title：Genetic testing and molecular biomarkers

authors： Qi T,Wu D,Duan Z,Chen C,Qiu J,Kang J

更新日期：2020-10-01 00:00:00

abstract：: Background: Diabetic peripheral neuropathy (DPN) affects nearly 50% of the diabetic population. Advanced glycation end products, measured through skin autofluorescence (SAF), play an important role in the diagnosis and prevention of DPN. To date, however, no relevant study...

journal_title：Genetic testing and molecular biomarkers

authors： Wan L,Qin G,Yan W,Sun T

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Previous studies have found an association between the SNP rs143383 + 104T/C in the growth differentiation factor 5 (GDF5) gene and the risk of developing knee osteoarthritis (KOA) in various populations worldwide. OBJECTIVE:To discover if there is an association between the SNP rs143383 + 104T/C, in the GD...

journal_title：Genetic testing and molecular biomarkers

authors： García-Alvarado F,Rosales-González M,Arellano-Pérez-Vertti D,Espino-Silva P,Meza-Velazquez M,Ruiz-Flores P

更新日期：2018-08-01 00:00:00

abstract：AIMS:Chronic granulomatous disease (CGD) is a rare inherited disorder caused by mutations in the subunits of the NADPH oxidase complex, leaving phagocytes unable to produce superoxide and thereby unable to kill invading microorganisms. A subgroup of CGD patients (approximately 20%) is reported to have mutations in NCF-...

journal_title：Genetic testing and molecular biomarkers

authors： Jakobsen MA,Pedersen SS,Barington T

更新日期：2009-08-01 00:00:00

abstract：AIMS:The dopaminergic and endocannabinoid systems are involved in regulation of feeding behavior. The aim of the study is to examine the possible relation between polymorphisms of the dopamine D2 receptor (DRD2) and cannabinoid receptor-1 (CNR1) genes and childhood obesity. METHODS:A hundred obese children and 100 hea...

journal_title：Genetic testing and molecular biomarkers

authors： Col Araz N,Nacak M,Oguzkan Balci S,Benlier N,Araz M,Pehlivan S,Balat A,Aynacioglu AS

更新日期：2012-12-01 00:00:00

abstract：BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG) initially ...

journal_title：Genetic testing and molecular biomarkers

authors： Tørring PM,Kjeldsen AD,Ousager LB,Brasch-Andersen C,Brusgaard K

更新日期：2012-12-01 00:00:00

abstract：:Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the first report on its distribution among patients with familial Mediterranean fever (FMF). We studied 56 unrelated Lebanese ...

journal_title：Genetic testing and molecular biomarkers

authors： Mahfouz RA,Sabbagh AS,Shamseddine W,Bazarbachi A,Ibrahim G,Arayssi T,El Hajj N,Rayes R,Zaatari GS,Khazen G,Khalaf RA

更新日期：2009-02-01 00:00:00

abstract：: Aim: The aim of this study was to report a novel POU Class 3 Homeobox 4 (POU3F4) variant and to provide further guidance on genetic counseling for incomplete partition (IP) type III families in the Korean population by showing two new contrasting cases in terms of genotype...

journal_title：Genetic testing and molecular biomarkers

authors： Jang JH,Oh J,Han JH,Park HR,Kim BJ,Lee S,Kim MY,Lee S,Oh DY,Choung YH,Choi BY

更新日期：2019-06-01 00:00:00

abstract：:Two polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, were hypothesized to decrease the risk of acute lymphoblastic leukemia (ALL). Studies examining the associations between these two polymorphisms and ALL susceptibility drew inconsistent results. To obtain a reliable conclusion...

journal_title：Genetic testing and molecular biomarkers

authors： Wang H,Meng L,Zhao L,Wang J,Liu X,Mi W

更新日期：2012-12-01 00:00:00

abstract：AIM:To assess the use of mitochondrial DNA (mtDNA) content as a noninvasive molecular biomarker in hepatitis C virus-related hepatocellular carcinoma (HCV-HCC). MATERIALS AND METHODS:A total of 135 participants were enrolled in the study. Equal numbers of subjects were enrolled in each of three clinically defined grou...

journal_title：Genetic testing and molecular biomarkers

authors： Hashad DI,Elyamany AS,Salem PE

更新日期：2015-11-01 00:00:00

abstract：OBJECTIVE:Essential hypertension is a multifactorial disease in which genetic and environmental factors play an important role. The renin-angiotensin system (RAS) is known to play a critical role in the homeostasis of blood pressure. Angiotensin-I converting enzyme (ACE) is a significant component of RAS, and an insert...

journal_title：Genetic testing and molecular biomarkers

authors： Srivastava K,Sundriyal R,Meena PC,Bhatia J,Narang R,Saluja D

更新日期：2012-03-01 00:00:00

abstract：: Aims: To compare fine-needle aspiration cytology (FNAC) with imprinted gene detection in the differential diagnosis of benign and malignant thyroid nodules. Methods: A total of 34 patients (35 cases of thyroid nodules) were exa...

journal_title：Genetic testing and molecular biomarkers

authors： Zou D,Wu C,Miao J,Shao Q,Huang W,Huang J,Wu G,Zhang Q

更新日期：2019-09-01 00:00:00

abstract：AIM:The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in the Indians and Koreans, but not in those of English or Turkish background. We investigated the ACE (I/D) polymorphism in vitiligo patients for the first time in Egypt and compared serum ACE leve...

journal_title：Genetic testing and molecular biomarkers

authors： Badran DI,Nada H,Hassan R

更新日期：2015-05-01 00:00:00

abstract：:Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) ...

journal_title：Genetic testing and molecular biomarkers

authors： Makrythanasis P,Tzetis M,Rapti A,Papatheodorou A,Tsipi M,Kitsiou S,Tsiamouri A,Poulou M,Roussos C,Kanavakis E

更新日期：2010-08-01 00:00:00

abstract：BACKGROUND:p53 is one of the most widely investigated molecular markers in bladder cancer and its polymorphisms have been related to individual cancer risks. The objective of this study was to explore the association of p53 codon 72 polymorphism with susceptibility and clinicopathologic characteristics of bladder cance...

journal_title：Genetic testing and molecular biomarkers

authors： Zhang R,Chen W,Zhang W,Jiang Q,Liu C,Lin Y,Hu Z,Yu S,Xu G

更新日期：2011-05-01 00:00:00

abstract：: Background and Purpose: Mucopolysaccharidosis 1 (MPS1) is an autosomal recessive disorder of a lysosomal enzyme called alpha-l-iduronidase caused by mutations in the IDUA gene. This enzyme is responsible for the degradation of the mucopolysaccharides, heparan sulfate, and ...

journal_title：Genetic testing and molecular biomarkers

authors： Kamranjam M,Alaei M

更新日期：2019-08-01 00:00:00

abstract：:One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the mos...

journal_title：Genetic testing and molecular biomarkers

authors： Kokotas H,Grigoriadou M,Villamar M,Giannoulia-Karantana A,del Castillo I,Petersen MB

更新日期：2010-04-01 00:00:00

abstract：CONTEXT:Dravidians are the predominant population residing in South India with a diverse genetic structure. Considering various genetic discoveries taking place today, it is evident that deletions in the AZFc region are the most common cause of severe spermatogenic failure (SSF) in various populations studied. However,...

journal_title：Genetic testing and molecular biomarkers

authors： Vijesh VV,Nambiar V,Mohammed SI,Sukumaran S,Suganthi R

更新日期：2015-03-01 00:00:00

abstract：AIM:One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. The relation of thrombophilia to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate...

journal_title：Genetic testing and molecular biomarkers

authors： Mohamed MA,El Moaty MA,El Kholy AF,Mohamed SA,Ali AI

更新日期：2010-10-01 00:00:00

abstract：AIMS:New sequencing technologies allow increased opportunities to use genomic-based diagnostic tests (genomic tests) in routine clinical practice, which will impact healthcare budgets and patients' outcomes. This article aims to generate a list of recommendations on how the principles and methods of cost-effectiveness ...

journal_title：Genetic testing and molecular biomarkers

authors： Spackman E,Hinde S,Bojke L,Payne K,Sculpher M

更新日期：2017-12-01 00:00:00

abstract：AIMS:To investigate the association between transforming growth factor-beta3 (TGF-β3) genetic polymorphisms and nonsyndromic cleft lip and palate (NSCLP) risk. METHODS:An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from their inc...

journal_title：Genetic testing and molecular biomarkers

authors： Tang M,Wang Y,Han S,Guo S,Wang D

更新日期：2013-12-01 00:00:00

abstract：:Prostate cancer is the most common noncutaneous malignant neoplasm in men in the Western countries. It is well established that genetic and epigenetic alterations are common events in prostate cancer, which may lead to aberrant expression of critical genes. Most of the studies are focused on the overexpressed or dupli...

journal_title：Genetic testing and molecular biomarkers

authors： Varisli L

更新日期：2013-07-01 00:00:00

abstract：AIMS:Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of p...

journal_title：Genetic testing and molecular biomarkers

authors： da Silva Constantino T,de Lima ELS,de Brito LRPB,Silva JL,Coêlho MRCD,Muniz MTC,Silva PCV,Domingues ALC

更新日期：2017-09-01 00:00:00