Publication Date: Aug 20, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases.
Kenneson Aileen et al. Molecular genetics and metabolism reports 2020 Sep 24100633 - Facing the Methodological Challenge in Dissecting the Genetics of ADHD: A Case for Deep Phenotyping and Heterogeneity Reduction.
Sengupta Sarojini M et al. Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent 2020 Aug 29(3) 188-201 - Molecular genetics of disorders of sex development in a highly consanguineous population.
Alswailem Meshael et al. The Journal of steroid biochemistry and molecular biology 2020 Aug 105736 - Overview of the current status of gene therapy for primary immune deficiencies (PIDs).
Kuo Caroline Y et al. The Journal of allergy and clinical immunology 2020 Aug 146(2) 229-233 - Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings Matthew J et al. Journal of neuromuscular diseases 2020 Jul - Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
Gürbüz Berrak Bilginer et al. European journal of medical genetics 2020 Aug 104032 - GENE2D: A NoSQL Integrated Data Repository of Genetic Disorders Data.
Samra Halima et al. Healthcare (Basel, Switzerland) 2020 Aug 8(3) - A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan Shiva et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug - Hereditary alpha tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.
Greiner Georg et al. Blood 2020 Aug - A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Yeung Alison et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug - The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.
Farjami Mahsa et al. Iranian journal of basic medical sciences 2020 Jul 23(7) 841-848 - Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.
Köffer Jasmin et al. International journal of legal medicine 2020 Aug
Cancer Genomics
- Identification of Hepatocellular Carcinoma prognostic markers based on 10-immune gene signature.
Zhao Kaifei et al. Bioscience reports 2020 Aug - An optimal prognostic model based on gene expression for clear cell renal cell carcinoma.
Xu Dan et al. Oncology letters 2020 Sep 20(3) 2420-2434 - A 10-gene signature as a predictor of biochemical recurrence after radical prostatectomy in patients with prostate cancer and a Gleason score ≥7.
Wu Xiangkun et al. Oncology letters 2020 Sep 20(3) 2906-2918 - When should we order a next generation sequencing test in a patient with cancer?
Colomer Ramon et al. EClinicalMedicine 2020 Aug 25100487 - TERT Promoter Mutation as an Independent Prognostic Marker for Poor Prognosis MAPK Inhibitors-Treated Melanoma.
Blateau Pauline et al. Cancers 2020 Aug 12(8) - Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer.
Lu Zhihao et al. Journal for immunotherapy of cancer 2020 Aug 8(2) - Prognostic Value and Potential Role of Alternative mRNA Splicing Events in Cervical Cancer.
Shao Xiang-Yang et al. Frontiers in genetics 2020 11726 - Genetic features and application value of next generation sequencing in the diagnosis of synchronous multifocal lung adenocarcinoma.
Chen Xiaoyan et al. Oncology letters 2020 Sep 20(3) 2829-2839 - Development and validation of a metabolic gene signature for predicting overall survival in patients with colon cancer.
Ren Jun et al. Clinical and experimental medicine 2020 Aug - Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Hayashi Hideyuki et al. Cancer science 2020 Aug - MiR-93/miR-375: Diagnostic Potential, Aggressiveness Correlation and Common Target Genes in Prostate Cancer.
Ciszkowicz Ewa et al. International journal of molecular sciences 2020 Aug 21(16) - Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF -Prevalent Population.
Cho Yoon Young et al. International journal of molecular sciences 2020 Aug 21(16) - Effect of KRAS and NRAS mutations on the prognosis of patients with synchronous metastatic colorectal cancer presenting with liver-only and lung-only metastases.
Chuang Shih-Chang et al. Oncology letters 2020 Sep 20(3) 2119-2130 - Identification of a five-gene signature for predicting the progression and prognosis of stage I endometrial carcinoma.
Bian Jia et al. Oncology letters 2020 Sep 20(3) 2396-2410 - A three-mRNA status risk score has greater predictive ability compared with a lncRNA-based risk score for predicting prognosis in patients with hepatocellular carcinoma.
Zhang Wenxia et al. Oncology letters 2020 Oct 20(4) 48 - The Underlying Tumor Genomics of Predominant Histologic Subtypes in Lung Adenocarcinoma.
Caso Raul et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2020 Aug - Cost-effectiveness analysis of the 70-gene signature compared with clinical assessment in breast cancer based on a randomised controlled trial.
Retèl Valesca P et al. European journal of cancer (Oxford, England : 1990) 2020 Aug 137193-203 - Utility of Circulating Tumor DNA for Detection and Monitoring of Endometrial Cancer Recurrence and Progression.
Moss Esther L et al. Cancers 2020 Aug 12(8) - Combination of RERG and ZNF671 methylation rates in circulating cell-free DNA: A novel biomarker for screening of nasopharyngeal carcinoma.
Xu Yifei et al. Cancer science 2020 Jul 111(7) 2536-2545
Hereditary Cancer
- Universal Mismatch Repair Protein Screening in Upper Tract Urothelial Carcinoma.
Gayhart Matthew George et al. American journal of clinical pathology 2020 Aug - Common susceptibility loci for male breast cancer.
Maguire Sarah et al. Journal of the National Cancer Institute 2020 Aug - Effects of health literacy skills, educational attainment, and level of melanoma risk on responses to personalized genomic testing.
Kaphingst Kimberly A et al. Patient education and counseling 2020 Aug - Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome.
Picó María Dolores et al. Cancers 2020 Aug 12(8) - Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients.
Sokolenko Anna P et al. Breast cancer research and treatment 2020 Aug - Characterization of therapy-related acute leukemia in hereditary breast-ovarian carcinoma patients: role of BRCA1 mutation and topoisomerase II-directed therapy.
Bagal Bhausaheb et al. Medical oncology (Northwood, London, England) 2020 Apr 37(5) 48 - Factors Impacting on Decision-Making towards Prophylactic Surgeries in BRCA Mutation Carriers and Women with Familial Predisposition.
Segerer Robin et al. Breast care (Basel, Switzerland) 2020 Jun 15(3) 253-259 - Repeat ablative therapy in hereditary or multifocal renal cancer: Functional and oncological outcomes.
Gaillard Victor et al. Urologic oncology 2020 Aug - Streamlining genetic testing for women with ovarian cancer in a Northern California health care system.
Powell C Bethan et al. Gynecologic oncology 2020 Aug - Uncertainty management for individuals with Lynch Syndrome: Identifying and responding to healthcare barriers.
Campbell-Salome Gemme et al. Patient education and counseling 2020 Aug - Early-onset colorectal cancer: A distinct entity with unique genetic features.
Jiang Dan et al. Oncology letters 2020 Oct 20(4) 33 - Factors associated with use of hormone therapy after preventive oophorectomy in BRCA mutation carriers.
Mejia-Gomez Javier et al. Menopause (New York, N.Y.) 2020 Aug - Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
El Ansari Fatima Zahra et al. BMC cancer 2020 Aug 20(1) 747 - Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
Hartman Tiffiney R et al. Scientific reports 2020 Aug 10(1) 13518 - Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation.
Jeong Go Woon et al. Cancer research and treatment : official journal of Korean Cancer Association 2020 Aug - Gastric cancer is highly prevalent in Lynch syndrome patients with atrophic gastritis.
Cho Hourin et al. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2020 Aug - Identifying mismatch repair deficient colon cancer: near perfect concordance between immunohistochemistry and microsatellite instability testing in a large, population-based series.
Loughrey Maurice B et al. Histopathology 2020 Aug
Chronic Disease
- Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation.
Müller Regina et al. European journal of human genetics : EJHG 2020 Aug - Joint testing of donor and recipient genetic matching scores and recipient genotype has robust power for finding genes associated with transplant outcomes.
Arthur Victoria L et al. Genetic epidemiology 2020 Aug - A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care.
Sharp Seth A et al. Alimentary pharmacology & therapeutics 2020 Aug - Identification of potential diagnostic gene biomarkers in patients with osteoarthritis.
Wang Xinling et al. Scientific reports 2020 Aug 10(1) 13591 - Assessing the clinical utility of genetic profiling in fracture risk prediction: a decision curve analysis.
Ho-Le T P et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020 Aug - Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease.
Sekine Akinari et al. American journal of nephrology 2020 Aug 1-7
Ethical, Legal and Social Issues (ELSI)
- Ethical Questions Concerning Newborn Genetic Screening.
Esquerda Montse et al. Clinical genetics 2020 Aug - The ethics of embryo donation: what are the moral similarities and differences of surplus embryo donation and double gamete donation?
Huele E H et al. Human reproduction (Oxford, England) 2020 Aug - Patients' decision to contribute to a biobank in the light of the patient-recruiter relationship-a qualitative study of broad consent in a hospital setting.
Bosisio Francesca et al. Journal of community genetics 2020 Aug
General Practice
- Impacts of personal DNA ancestry testing.
Rubanovich Caryn Kseniya et al. Journal of community genetics 2020 Aug - Communication skills training for healthcare professionals in providing genetic counseling: A scoping literature review.
Medendorp Niki M et al. Patient education and counseling 2020 Aug - Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study.
Ryu Borim et al. Journal of medical Internet research 2020 Aug 22(8) e15040
Heart, Lung, Blood and Sleep Diseases
- Progress of Gene Therapy in Cardiovascular Disease.
Shimamura Munehisa et al. Hypertension (Dallas, Tex. : 1979) 2020 Aug HYPERTENSIONAHA12014478 - Evidence of Clonal Hematopoiesis and Risk of Heart Failure.
Bazeley Peter et al. Current heart failure reports 2020 Aug - Influence of gender norms in relation to child's quality of care: follow-up of families of children with SCD identified through NBS in Tanzania.
Bukini Daima et al. Journal of community genetics 2020 Aug - Genetics of Hypertriglyceridemia.
Dron Jacqueline S et al. Frontiers in endocrinology 2020 11455 - Long term follow-up of genetically confirmed patients with familial hypercholesterolemia treated with first and second-generation statins and then with PCSK9 monoclonal antibodies.
Pasta Andrea et al. Atherosclerosis 2020 Jul 3086-14 - Testing for Not so Rare Monogenic Cardiovascular Diseases.
Damrauer Scott M et al. Journal of the American College of Cardiology 2020 Aug 76(7) 809-811 - Identification of Undetected Monogenic Cardiovascular Disorders.
Abdulrahim Jawan W et al. Journal of the American College of Cardiology 2020 Aug 76(7) 797-808 - Beliefs and Values About Gene Therapy and In-Utero Gene Editing in Patients with Hemophilia and Their Relatives.
Vasquez-Loarte Tania C et al. The patient 2020 Aug - Gene therapy for hemophilia: anticipating the unexpected.
Pierce Glenn F et al. Blood advances 2020 Aug 4(15) 3788 - Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.
Moll Matthew et al. The Lancet. Respiratory medicine 2020 8(7) 696-708 - Impact of SLCO4C1 Genotypes, Creatinine, and Spironolactone on Digoxin Population Pharmacokinetic Variables in Patients With Cardiac Insufficiency.
Du Pengqiang et al. Clinical therapeutics 2020 Aug
Newborn Screening
- Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo Alice et al. Diagnostics (Basel, Switzerland) 2020 Aug 10(8) - Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A et al. Molecular genetics and metabolism reports 2020 Sep 24100632 - The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari Aashish N et al. Nature medicine 2020 Aug - Quantity not sufficient rates and delays in sweat testing in US infants with cystic fibrosis.
McColley Susanna A et al. Pediatric pulmonology 2020 Aug
Pharmacogenomics
- Pharmacogenomics Instruction Depth, Extent, and Perception in US Medical Curricula.
Basyouni Dara et al. Journal of medical education and curricular development 72382120520930772 - Pharmacogenetics for severe adverse drug reactions induced by molecular-targeted therapy.
Udagawa Chihiro et al. Cancer science 2020 Aug - Effect of Therapeutic Drug Monitoring and Cytochrome P450 2C19 Genotyping on Clinical Outcomes of Voriconazole: A Systematic Review.
Lee Joseph et al. The Annals of pharmacotherapy 2020 Aug 1060028020948174 - Pain pharmacogenetics.
Slepukhina Mariia A et al. Drug metabolism and personalized therapy 2020 Aug - Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.
Karnes Jason H et al. Clinical pharmacology and therapeutics 2020 Aug
Reproductive Health
- How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples.
van Dijke Ivy et al. European journal of human genetics : EJHG 2020 Aug - Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings.
Hyblova Michaela et al. Diagnostics (Basel, Switzerland) 2020 Aug 10(8) - A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.
Yuan Ping et al. Journal of assisted reproduction and genetics 2020 Aug
Event
- Michigan Cancer Genetics Alliance (MCGA) Zoom Meeting: "Improving Appropriate Access to Cancer Genetics Services in Michigan"
Friday, August 28, 2020; 8:30 AM-12:30 PM. Please register by August 25.
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
.png)
No hay comentarios:
Publicar un comentario